Faculty

Zbigniew K. Wszolek, M.D.

Publications

Dulski J, Jiang P, Lin WL, Dickson DW, Wszolek ZK. Assessment of Skin Biopsy as a Diagnostic Biomarker in CSF1R-Related Disorder. Neurology. 2024 Jun 11; 102 (11):e209437 Epub 2024 May 17
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Hop PJ, Lai D, Keagle PJ, Baron DM, Kenna BJ, Kooyman M, Shankaracharya Shankaracharya, Halter C, Straniero L, Asselta R, Bonvegna S, Soto-Beasley AI, Wszolek ZK, Uitti RJ, Isaias IU, Pezzoli G, Ticozzi N, Ross OA, Veldink JH, Foroud TM, Kenna KP, Landers JE, Project MinE ALS Sequencing Consortium. Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease. Nat Genet. 2024 Jun 10 Epub 2024 June 10
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Schormair B, Zhao C, Bell S, Didriksen M, Nawaz MS, Schandra N, Stefani A, Hogl B, Dauvilliers Y, Bachmann CG, Kemlink D, Sonka K, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek ZK, Ibrahim A, Bergmann M, Kittke V, Harrer P, Dowsett J, Chenini S, Ostrowski SR, Sorensen E, Erikstrup C, Pedersen OB, Topholm Bruun M, Nielsen KR, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Burchell B, Furlotte NA, Nandakumar P, Earley CJ, Ondo WG, Xiong L, Desautels A, Perola M, Vodicka P, Dina C, Stoll M, Franke A, Lieb W, Stewart AFR, Shah SH, Gieger C, Peters A, Rye DB, Rouleau GA, Berger K, Stefansson H, Ullum H, Stefansson K, Hinds DA, Di Angelantonio E, Oexle K, Winkelmann J, 23andMe Research Team//D.E.S.I.R. study group. Genome-wide meta-analyses of restless legs syndrome yield insights into genetic architecture, disease biology and risk prediction. Nat Genet. 2024 Jun; 56 (6):1090-1099 Epub 2024 June 05
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Watzlawik JO, Hou X, Richardson T, Lewicki SL, Siuda J, Wszolek ZK, Cook CN, Petrucelli L, DeTure M, Dickson DW, Antico O, Muqit MMK, Fishman JB, Pirani K, Kumaran R, Polinski NK, Fiesel FC, Springer W. Development and characterization of phospho-ubiquitin antibodies to monitor PINK1-PRKN signaling in cells and tissue. Autophagy. 2024 May 27; 1-16 [Epub ahead of print]
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Al-Dalahmah O, Lam M, McInvale JJ, Qu W, Nguyen T, Mun JY, Kwon S, Ifediora N, Mahajan A, Humala N, Winters T, Angeles E, Jakubiak KA, Kuhn R, Kim YA, De Rosa MC, Doege CA, Paryani F, Flowers X, Dovas A, Mela A, Lu H, DeTure MA, Vonsattel JP, Wszolek ZK, Dickson DW, Kuhlmann T, Zaehres H, Scholer HR, Sproul AA, Siegelin MD, De Jager PL, Goldman JE, Menon V, Canoll P, Hargus G. Osteopontin drives neuroinflammation and cell loss in MAPT-N279K frontotemporal dementia patient neurons. Cell Stem Cell. 2024 May 2; 31 (5):676-693.e10 Epub 2024 Apr 15
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Watzlawik JO, Fiesel FC, Fiorino G, Bustillos BA, Baninameh Z, Markham BN, Hou X, Hayes CS, Bredenberg JM, Kurchaba NW, Fricova D, Siuda J, Wszolek ZK, Noda S, Sato S, Hattori N, Prasad AA, Kirik D, Fox HS, Stauch KL, Goldberg MS, Springer W. Basal activity of PINK1 and PRKN in cell models and rodent brain. Autophagy. 2024 May; 20 (5):1147-1158 Epub 2023 Dec 02
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Chia R, Ray A, Shah Z, Ding J, Ruffo P, Fujita M, Menon V, Saez-Atienzar S, Reho P, Kaivola K, Walton RL, Reynolds RH, Karra R, Sait S, Akcimen F, Diez-Fairen M, Alvarez I, Fanciulli A, Stefanova N, Seppi K, Duerr S, Leys F, Krismer F, Sidoroff V, Zimprich A, Pirker W, Rascol O, Foubert-Samier A, Meissner WG, Tison F, Pavy-Le Traon A, Pellecchia MT, Barone P, Russillo MC, Marin-Lahoz J, Kulisevsky J, Torres S, Mir P, Perinan MT, Proukakis C, Chelban V, Wu L, Goh YY, Parkkinen L, Hu MT, Kobylecki C, Saxon JA, Rollinson S, Garland E, Biaggioni I, Litvan I, Rubio I, Alcalay RN, Kwei KT, Lubbe SJ, Mao Q, Flanagan ME, Castellani RJ, Khurana V, Ndayisaba A, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Moore A, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Kim C, Iba M, Masliah E, Dawson TM, Rosenthal LS, Pantelyat A, Albert MS, Pletnikova O, Troncoso JC, Infante J, Lage C, Sanchez-Juan P, Serrano GE, Beach TG, Pastor P, Morris HR, Albani D, Clarimon J, Wenning GK, Hardy JA, Ryten M, Topol E, Torkamani A, Chio A, Bennett DA, De Jager PL, Low PA, Singer W, Cheshire WP, Wszolek ZK, Dickson DW, Traynor BJ, Gibbs JR, Dalgard CL, Ross OA, Houlden H, Scholz SW. Genome sequence analyses identify novel risk loci for multiple system atrophy. Neuron. 2024 Apr 24 [Epub ahead of print]
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Dulski J, Muthusamy K, Lund TC, Wszolek ZK. CSF1R-related disorder: State of the art, challenges, and proposition of a new terminology. Parkinsonism Relat Disord. 2024 Apr; 121:105894 Epub 2023 Oct 10
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Walton RL, Koga S, Beasley AI, White LJ, Griesacker T, Murray ME, Kasanuki K, Hou X, Fiesel FC, Springer W, Uitti RJ, Fields JA, Botha H, Ramanan VK, Kantarci K, Lowe VJ, Jack CR, Ertekin-Taner N, Savica R, Graff-Radford J, Petersen RC, Parisi JE, Reichard RR, Graff-Radford NR, Ferman TJ, Boeve BF, Wszolek ZK, Dickson DW, Ross OA, Heckman MG. Role of GBA variants in Lewy body disease neuropathology. Acta Neuropathol. 2024 Mar 12; 147 (1):54
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Badihian N, Savica R, Adler CH, Wszolek ZK, Jackson LM, Benarroch EE, Sandroni P, Low PA, Singer W, Coon EA. Clinical Characteristics and Outcomes in Young-Onset Multiple System Atrophy. Mov Disord Clin Pract. 2024 Mar; 11 (3):220-226 Epub 2023 Nov 23
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Middlebrooks EH, Tipton PW, Greco E, Okromelidze L, Patel V, Wszolek ZK, Zhou X, Tao S, Westerhold EM, Straub S, Uitti RJ, Sandhu SJS, Quinones-Hinojosa A, Grewal SS. Enhancing outcomes in deep brain stimulation: a comparative study of direct targeting using 7T versus 3T MRI. J Neurosurg. 2024 Feb 23; 1-8 [Epub ahead of print]
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Corriveau-Lecavalier N, Tosakulwong N, Lesnick TG, Fought AJ, Reid RI, Schwarz CG, Senjem ML, Jack CR Jr, Jones DT, Vemuri P, Rademakers R, Ramos EM, Geschwind DH, Knopman DS, Botha H, Savica R, Graff-Radford J, Ramanan VK, Fields JA, Graff-Radford N, Wszolek Z, Forsberg LK, Petersen RC, Heuer HW, Boxer AL, Rosen HJ, Boeve BF, Kantarci K, ALLFTD consortium. Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium. Neurobiol Aging. 2024 Feb; 134:135-145 Epub 2023 Dec 10
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Dulski J, Uitti RJ, Beasley A, Hernandez D, Ramanan VK, Cahn EJ, Ren Y, Johnson PW, Quicksall ZS, Wszolek ZK, Ross OA, Heckman MG. Genetics of Parkinson's disease heterogeneity: A genome-wide association study of clinical subtypes. Parkinsonism Relat Disord. 2024 Feb; 119:105935 Epub 2023 Nov 26
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Sekiya H, Koga S, Murakami A, DeTure M, Ross OA, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW. Frequency of Comorbid Pathologies and Their Clinical Impact in Multiple System Atrophy. Mov Disord. 2024 Feb; 39 (2):380-390 Epub 2023 Nov 20
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Dulski J, Middlebrooks EH, Wszolek ZK. Novel Neuroimaging Pattern in POLR3A-Related Disorder on 7T MRI. Neurol Genet. 2024 Feb; 10 (1):e200125 Epub 2024 Jan 10
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Marks JD, Ayuso VE, Carlomagno Y, Yue M, Todd TW, Hao Y, Li Z, McEachin ZT, Shantaraman A, Duong DM, Daughrity LM, Jansen-West K, Shao W, Calliari A, Bejarano JG, DeTure M, Rawlinson B, Casey MC, Lilley MT, Donahue MH, Jawahar VM, Boeve BF, Petersen RC, Knopman DS, Oskarsson B, Graff-Radford NR, Wszolek ZK, Dickson DW, Josephs KA, Qi YA, Seyfried NT, Ward ME, Zhang YJ, Prudencio M, Petrucelli L, Cook CN. TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia. Sci Transl Med. 2024 Jan 17; 16 (730):eadf9735
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Lakhani DA, Zhou X, Tao S, Patel V, Wen S, Okromelidze L, Greco E, Lin C, Westerhold EM, Straub S, Wszolek ZK, Tipton PW, Uitti RJ, Grewal SS, Middlebrooks EH. Diagnostic utility of 7T neuromelanin imaging of the substantia nigra in Parkinson's disease. NPJ Parkinsons Dis. 2024 Jan 08; 10(1):13.
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Dulski J, Middlebrooks EH, Wszolek ZK. PINK1-PD: A compound heterozygote of Filipino ancestry and 7 Tesla MRI findings. Parkinsonism Relat Disord 2024 Jan; 118:105948 Epub 2023 Nov 30
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Dulski J, Ross OA, Wszolek ZK. Genetics of Parkinson's Disease: state-of-the-art and role in clinical settings. Neurol Neurochir Pol. 2024; 58 (1):38-46 Epub 2024 Jan 04
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Mannheim JG, Fu JF, Wegener T, Klyuzhin IS, Vafai N, Shahinfard E, McKenzie J, Strongosky A, Wszolek ZK, Jon Stoessl A, Sossi V. Multi-tracer PET correlation analysis reveals disease-specific patterns in Parkinson's disease and asymptomatic LRRK2 pathogenic variant carriers compared to healthy controls. Neuroimage Clin. 2024; 42:103600 Epub 2024 Apr 01
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Papapetropoulos S, Gelfand JM, Konno T, Ikeuchi T, Pontius A, Meier A, Foroutan F, Wszolek ZK. Clinical presentation and diagnosis of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia: a literature analysis of case studies. Front Neurol. 2024; 15:1320663 Epub 2024 Mar 11
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Sekiya H, Koga S, Murakami A, Kawazoe M, Kim M, Martin NB, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW. Validation Study of the MDS Criteria for the Diagnosis of Multiple System Atrophy in the Mayo Clinic Brain Bank. Neurology. 2023 Dec 12; 101 (24):e2460-e2471 Epub 2023 Oct 10
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Dulski J, Soto-Beasley AI, Uitti RJ, Wszolek ZK, Ross OA. PTPA variants are rare in early-onset and familial Parkinson's disease. Brain 2023 Dec 1; 146 (12):e125-e127
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Chitu V, Biundo F, Oppong-Asare J, Gokhan S, Aguilan JT, Dulski J, Wszolek ZK, Sidoli S, Stanley ER. Prophylactic effect of chronic immunosuppression in a mouse model of CSF-1 receptor-related leukoencephalopathy. Glia. 2023 Nov; 71 (11):2664-2678 Epub 2023 July 30
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Burgess JD, Amerna D, Norton ES, Parsons TM, Perkerson RB 3rd, Faroqi AH, Wszolek ZK, Guerrero Cazares H, Kanekiyo T, Delenclos M, McLean PJ. A mutant methionyl-tRNA synthetase-based toolkit to assess induced-mesenchymal stromal cell secretome in mixed-culture disease models. Stem Cell Res Ther. 2023 Oct 5; 14 (1):289 Epub 2023 Oct 05
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Zhang L, Flagan TM, Hakkinen S, Chu SA, Brown JA, Lee AJ, Pasquini L, Mandelli ML, Gorno-Tempini ML, Sturm VE, Yokoyama JS, Appleby BS, Cobigo Y, Dickerson BC, Domoto-Reilly K, Geschwind DH, Ghoshal N, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Kantarci K, Lario Lago A, Litvan I, Mackenzie IR, Mendez MF, Onyike CU, Ramos EM, Roberson ED, Tartaglia MC, Toga AW, Weintraub S, Wszolek ZK, Forsberg LK, Heuer HW, Boeve BF, Boxer AL, Rosen HJ, Miller BL, Seeley WW, Lee SE, ARTFL/LEFFTDS/ALLFTD Consortia. Network Connectivity Alterations across the MAPT Mutation Clinical Spectrum. Ann Neurol. 2023 Oct; 94 (4):632-646 Epub 2023 Aug 23
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Hou X, Chen TH, Koga S, Bredenberg JM, Faroqi AH, Delenclos M, Bu G, Wszolek ZK, Carr JA, Ross OA, McLean PJ, Murray ME, Dickson DW, Fiesel FC, Springer W. Alpha-synuclein-associated changes in PINK1-PRKN-mediated mitophagy are disease context dependent. Brain Pathol. 2023 Sep; 33 (5):e13175 Epub 2023 May 31
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Dulski J, Heckman MG, Nowak JM, Wszolek ZK. Protective Effect of Glucocorticoids against Symptomatic Disease in CSF1R Variant Carriers. Mov Disord. 2023 Aug; 38 (8):1545-1549 Epub 2023 June 13
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Toller G, Cobigo Y, Callahan P, Appleby BS, Brushaber D, Domoto-Reilly K, Forsberg LK, Ghoshal N, Graff-Radford J, Graff-Radford NR, Grossman M, Heuer HW, Kornak J, Kremers W, Lapid MI, Leger G, Litvan I, Mackenzie IR, Pascual MB, Ramos EM, Rascovsky K, Rojas JC, Staffaroni AM, Tartaglia MC, Toga A, Weintraub S, Wszolek ZK, Boeve BF, Boxer AL, Rosen HJ, Rankin KP, ALLFTD consortium. Multisite ALLFTD study modeling progressive empathy loss from the earliest stages of behavioral variant frontotemporal dementia. Alzheimers Dement. 2023 Jul; 19 (7):2842-2852 Epub 2023 Jan 02
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Dulski J, Koga S, Prudencio M, Tipton PW, Ali S, Strongosky AJ, Rose JH, Parrales ZA, Dunmore JA, Jansen-West K, Petrucelli L, Dickson DW, Wszolek ZK. Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease. Parkinsonism Relat Disord. 2023 Jul; 112:105481 Epub 2023 June 13
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Dulski J, Koga S, Liberski PP, Sitek EJ, Butala AA, Slawek J, Dickson DW, Wszolek ZK. Perry Disease: Expanding the Genetic Basis. Mov Disord Clin Pract. 2023 Jul; 10 (7):1136-1142 Epub 2023 June 22
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Dulski J, Souza J, Santos ML, Wszolek ZK. Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS): new cases, systematic literature review, and associations with CSF1R-ALSP. Orphanet J Rare Dis. 2023 Jun 22; 18 (1):160 Epub 2023 June 22
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Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T, Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chio A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW, American Genome Center//International LBD Genomics Consortium//International ALS/FTD Consortium//PROSPECT Consortium. Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias. Cell Genom. 2023 Jun 14; 3 (6):100316 Epub 2023 May 04
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Fiesel FC, Fricova D, Hayes CS, Coban MA, Hudec R, Bredenberg JM, Broadway BJ, Markham BN, Yan T, Boneski PK, Fiorino G, Watzlawik JO, Hou X, McCarty AM, Lewis-Tuffin LJ, Zhong J, Madden BJ, Ordureau A, An H, Puschmann A, Wszolek ZK, Ross OA, Harper JW, Caulfield TR, Springer W. Substitution of PINK1 Gly411 modulates substrate receptivity and turnover. Autophagy. 2023 Jun; 19 (6):1711-1732 Epub 2022 Dec 05
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Dulski J, Strongosky AJ, Al-Shaikh RH, Wszolek ZK. Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome. Amyotroph Lateral Scler Frontotemporal Degener. 2023 May; 24 (3-4):347-350 Epub 2023 Jan 05
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Biundo F, Chitu V, Tindi J, Burghardt NS, Shlager GGL, Ketchum HC, DeTure MA, Dickson DW, Wszolek ZK, Khodakhah K, Stanley ER. Elevated granulocyte colony stimulating factor (CSF) causes cerebellar deficits and anxiety in a model of CSF-1 receptor related leukodystrophy. Glia. 2023 Mar; 71 (3):775-794 Epub 2022 Nov 26
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Dulski J, Koga S, Dickson DW, Wszolek ZK. Report of A Family with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Without Mutations in CSF1R, AARS1 or AARS2. Mov Disord Clin Pract. 2023 Feb; 10 (2):307-312 Epub 2023 Jan 10
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Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Bruggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menendez-Gonzalez M, Jesus Maestre S, Gomez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbaumer G, Kuhn AA, Borngraber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genc G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Kruger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damasio J, Klivenyi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C, MJFF Global Genetic Parkinson's Disease Study Group. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Mov Disord. 2023 Feb; 38 (2):286-303 Epub 2023 Jan 24
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Wszolek ZK, Slawek J. Journal's Leading Topics & Thank You to Our Reviewers. Neurol Neurochir Pol. 2023; 57 (1):1-2
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Wszolek ZK, Slawek J. Journal's Leading Topics & Thank You to Our Reviewers. Neurol Neurochir Pol. 2023; 57 (1):1-2
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Wszolek ZK, Stolarczyk L, Slawek J. Latest bibliometrics of Polish Journal of Neurology and Neurosurgery. Neurol Neurochir Pol. 2023; 57 (4):329-331
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Muthusamy K, Sivadasan A, Dixon L, Sudhakar S, Thomas M, Danda S, Wszolek ZK, Wierenga K, Dhamija R, Gavrilova R. Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions. Front Neurol. 2023; 14:1219324 Epub 2023 July 26
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Dulski J, Stanley ER, Chitu V, Wszolek ZK. Potential use of glucocorticosteroids in CSF1R mutation carriers - current evidence and future directions. Neurol Neurochir Pol. 2023; 57 (5):444-449 Epub 2023 Oct 27
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Dulski J, Al-Shaikh RH, Prudencio M, Petrucelli L, Sulek A, Bernatowicz K, Slawek J, Wszolek ZK. First families with spinocerebellar ataxia type 7 in Poland. Neurol Neurochir Pol. 2023; 57 (3):310-313 Epub 2023 June 07
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Rush BK, Tipton PW, Strongosky A, Wszolek ZK. Neuropsychological profile of CSF1R-related leukoencephalopathy. Front Neurol. 2023; 14:1155387 Epub 2023 June 02
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Dulski J, Middlebrooks EH, Wszolek ZK. Novel Application of 7T MRI in CSF1R-Related Leukoencephalopathy. Neurology. 2022 Dec 12; 99 (24):1110-1111
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Dulski J, Heckman MG, White LJ, Zur-Wyrozumska K, Lund TC, Wszolek ZK. Hematopoietic Stem Cell Transplantation in CSF1R-Related Leukoencephalopathy: Retrospective Study on Predictors of Outcomes. Pharmaceutics. 2022 Dec 12; 14 (12)
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Koga S, Ali S, Baker MC, Wierenga KJ, Dompenciel M, Dickson DW, Wszolek ZK. A novel clinicopathologic entity causing rapidly progressive cerebellar ataxia? Parkinsonism Relat Disord. 2022 Dec; 105:149-153 Epub 2022 Nov 11
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Erben Y, Prudencio M, Marquez CP, Jansen-West KR, Heckman MG, White LJ, Dunmore JA, Cook CN, Lilley MT, Qosja N, Song Y, Hanna Al Shaikh R, Daughrity LM, Bartfield JL, Day GS, Oskarsson B, Nicholson KA, Wszolek ZK, Hoyne JB, Gendron TF, Meschia JF, Petrucelli L. Neurofilament light chain and vaccination status associate with clinical outcomes in severe COVID-19. iScience. 2022 Nov 18; 25 (11):105272 Epub 2022 Oct 04
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Dulski J, Al-Shaikh RH, Sulek A, Kasprzak J, Slawek J, Wszolek ZK. Spinocerebellar ataxia type 3 (Machado-Joseph disease). Pol Arch Intern Med. 2022 Oct 21; 132 (10) Epub 2022 Aug 22
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Hopfner F, Tietz AK, Ruf VC, Ross OA, Koga S, Dickson D, Aguzzi A, Attems J, Beach T, Beller A, Cheshire WP, van Deerlin V, Desplats P, Deuschl G, Duyckaerts C, Ellinghaus D, Evsyukov V, Flanagan ME, Franke A, Frosch MP, Gearing M, Gelpi E, van Gerpen JA, Ghetti B, Glass JD, Grinberg LT, Halliday G, Helbig I, Hollerhage M, Huitinga I, Irwin DJ, Keene DC, Kovacs GG, Lee EB, Levin J, Marti MJ, Mackenzie I, McKeith I, Mclean C, Mollenhauer B, Neumann M, Newell KL, Pantelyat A, Pendziwiat M, Peters A, Molina Porcel L, Rabano A, Matej R, Rajput A, Rajput A, Reimann R, Scott WK, Seeley W, Selvackadunco S, Simuni T, Stadelmann C, Svenningsson P, Thomas A, Trenkwalder C, Troakes C, Trojanowski JQ, Uitti RJ, White CL, Wszolek ZK, Xie T, Ximelis T, Yebenes J, Muller U, Schellenberg GD, Herms J, Kuhlenbaumer G, Hoglinger G, Alzheimer's Disease Genetics Consortium. Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy. Mov Disord. 2022 Oct; 37 (10):2110-2121 Epub 2022 Aug 23
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Tipton PW, Deutschlaender AB, Savica R, Heckman MG, Brushaber DE, Dickerson BC, Gavrilova RH, Geschwind DH, Ghoshal N, Graff-Radford J, Graff-Radford NR, Grossman M, Hsiung GR, Huey ED, Irwin DJ, Jones DT, Knopman DS, McGinnis SM, Rademakers R, Ramos EM, Forsberg LK, Heuer HW, Onyike C, Tartaglia C, Domoto-Reilly K, Roberson ED, Mendez MF, Litvan I, Appleby BS, Grant I, Kaufer D, Boxer AL, Rosen HJ, Boeve BF, Wszolek ZK, ALLFTD Consortium. Differences in Motor Features of C9orf72, MAPT, or GRN Variant Carriers With Familial Frontotemporal Lobar Degeneration. Neurology. 2022 Sep 13; 99 (11):e1154-e1167 Epub 2022 July 05
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Asthana P, Kumar G, Milanowski LM, Au NPB, Chan SC, Huang J, Feng H, Kwan KM, He J, Chan KWY, Wszolek ZK, Ma CHE. Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression. NPJ Regen Med. 2022 Sep 5; 7 (1):45 Epub 2022 Sept 05
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Ali S, Tipton PW, Koga S, Middlebrooks EH, Josephs KA, Strongosky A, Dickson DW, Wszolek ZK. A novel CSF1R variant in a South Dakota family with CSF1R-related leukoencephalopathy. Parkinsonism Relat Disord 2022 Sep; 102:51-53 Epub 2022 July 31
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Hanna Al-Shaikh R, Milanowski LM, Holla VV, Kurihara K, Yadav R, Kamble N, Muthusamy B, Bellad A, Koziorowski D, Szlufik S, Hoffman-Zacharska D, Fujioka S, Tsuboi Y, Ross OA, Wierenga K, Uitti RJ, Wszolek Z, Pal PK. PLA2G6-associated neurodegeneration in four different populations-case series and literature review. Parkinsonism Relat Disord. 2022 Aug; 101:66-74 Epub 2022 June 30
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Toller G, Cobigo Y, Ljubenkov PA, Appleby BS, Dickerson BC, Domoto-Reilly K, Fong JC, Forsberg LK, Gavrilova RH, Ghoshal N, Heuer HW, Knopman DS, Kornak J, Lapid MI, Litvan I, Lucente DE, Mackenzie IR, Mckenzie IR, McGinnis SM, Miller BL, Pedraza O, Rojas JC, Staffaroni AM, Wong B, Wszolek ZK, Boeve BF, Boxer AL, Rosen HJ, Rankin KP, and the ALLFTD research consortium. Sensitivity of the Social Behavior Observer Checklist to Early Symptoms of Patients With Frontotemporal Dementia. Neurology. 2022 Aug 1; 99 (5):e488-e499 Epub 2022 Aug 01
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Garcia-Moreno H, Prudencio M, Thomas-Black G, Solanky N, Jansen-West KR, Hanna Al-Shaikh R, Heslegrave A, Zetterberg H, Santana MM, Pereira de Almeida L, Vasconcelos-Ferreira A, Januario C, Infante J, Faber J, Klockgether T, Reetz K, Raposo M, Ferreira AF, Lima M, Schols L, Synofzik M, Hubener-Schmid J, Puschmann A, Gorcenco S, Wszolek ZK, Petrucelli L, Giunti P. Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3. Eur J Neurol. 2022 Aug; 29 (8):2439-2452 Epub 2022 May 26
View PubMed
Pickles S, Gendron TF, Koike Y, Yue M, Song Y, Kachergus JM, Shi J, DeTure M, Thompson EA, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Wszolek ZK, Josephs KA, Dickson DW, Petrucelli L, Cook CN, Prudencio M. Evidence of cerebellar TDP-43 loss of function in FTLD-TDP. Acta Neuropathol Commun. 2022 Jul 25; 10 (1):107 Epub 2022 July 25
View PubMed
Valentino RR, Ramnarine C, Heckman MG, Johnson PW, Soto-Beasley AI, Walton RL, Koga S, Kasanuki K, Murray ME, Uitti RJ, Fields JA, Botha H, Ramanan VK, Kantarci K, Lowe VJ, Jack CR, Ertekin-Taner N, Savica R, Graff-Radford J, Petersen RC, Parisi JE, Reichard RR, Graff-Radford NR, Ferman TJ, Boeve BF, Wszolek ZK, Dickson DW, Ross OA. Mitochondrial genomic variation in dementia with Lewy bodies: association with disease risk and neuropathological measures. Acta Neuropathol Commun. 2022 Jul 14; 10 (1):103 Epub 2022 July 14
View PubMed
Dulski J, Cerquera-Cleves C, Milanowski L, Kwiatek-Majkusiak J, Koziorowski D, Ross OA, Pentela-Nowicka J, Slawek J, Wszolek ZK. L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome. Parkinsonism Relat Disord. 2022 Jul; 100:19-23 Epub 2022 June 04
View PubMed
Milanowski LM, Hou X, Bredenberg JM, Fiesel FC, Cocker LT, Soto-Beasley AI, Walton RL, Strongosky AJ, Faroqi AH, Barcikowska M, Boczarska-Jedynak M, Dulski J, Fedoryshyn L, Janik P, Potulska-Chromik A, Karpinsky K, Krygowska-Wajs A, Lynch T, Olszewska DA, Opala G, Pulyk A, Rektorova I, Sanotsky Y, Siuda J, Widlak M, Slawek J, Rudzinska-Bar M, Uitti R, Figura M, Szlufik S, Rzonca-Niewczas S, Podgorska E, McLean PJ, Koziorowski D, Ross OA, Hoffman-Zacharska D, Springer W, Wszolek ZK. Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis. Int J Mol Sci. 2022 Jun 25; 23 (13) Epub 2022 June 25
View PubMed
Gendron TF, Heckman MG, White LJ, Veire AM, Pedraza O, Burch AR, Bozoki AC, Dickerson BC, Domoto-Reilly K, Foroud T, Forsberg LK, Galasko DR, Ghoshal N, Graff-Radford NR, Grossman M, Heuer HW, Huey ED, Hsiung GR, Irwin DJ, Kaufer DI, Leger GC, Litvan I, Masdeu JC, Mendez MF, Onyike CU, Pascual B, Ritter A, Roberson ED, Rojas JC, Tartaglia MC, Wszolek ZK, Rosen H, Boeve BF, Boxer AL, Petrucelli L, ALLFTD consortium. Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders. Cell Rep Med. 2022 Apr 19; 3 (4):100607
View PubMed
Han J, Chitu V, Stanley ER, Wszolek ZK, Karrenbauer VD, Harris RA. Inhibition of colony stimulating factor-1 receptor (CSF-1R) as a potential therapeutic strategy for neurodegenerative diseases: opportunities and challenges. Cell Mol Life Sci. 2022 Apr 2; 79 (4):219 Epub 2022 Apr 02
View PubMed
Mickeviciute GC, Valiuskyte M, Platten M, Wszolek ZK, Andersen O, Danylaite Karrenbauer V, Ineichen BV, Granberg T. Neuroimaging phenotypes of CSF1R-related leukoencephalopathy: Systematic review, meta-analysis, and imaging recommendations. J Intern Med. 2022 Mar; 291 (3):269-282 Epub 2021 Dec 22
View PubMed
Liao C, Castonguay CE, Heilbron K, Vuokila V, Medeiros M, Houle G, Akcimen F, Ross JP, Catoire H, Diez-Fairen M, Kang J, Mueller SH, Girard SL, Hopfner F, Lorenz D, Clark LN, Soto-Beasley AI, Klebe S, Hallett M, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Seppi K, Berg D, Vilarino-Guell C, Postuma RB, Bernard G, Dupre N, Jankovic J, Testa CM, Ross OA, Arzberger T, Chouinard S, Louis ED, Mandich P, Vitale C, Barone P, Garcia-Martin E, Alonso-Navarro H, Agundez JAG, Jimenez-Jimenez FJ, Pastor P, Rajput A, Deuschl G, Kuhlenbaumer G, Meijer IA, Dion PA, Rouleau GA, 23andMe Research Team. Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis. JAMA Neurol. 2022 Feb 1; 79 (2):185-193
View PubMed
Ali S, Wszolek ZK. LRRK2 R1441C mutation causing Parkinson's Disease in an Egyptian family. Neurol Neurochir Pol. 2022; 56 (2):191-192 Epub 2022 Jan 14
View PubMed
Jansen-West K, Todd TW, Daughrity LM, Yue M, Tong J, Carlomagno Y, Del Rosso G, Kurti A, Jones CY, Dunmore JA, Castanedes-Casey M, Dickson DW, Wszolek ZK, Fryer JD, Petrucelli L, Prudencio M. Plasma PolyQ-ATXN3 Levels Associate With Cerebellar Degeneration and Behavioral Abnormalities in a New AAV-Based SCA3 Mouse Model. Front Cell Dev Biol. 2022; 10:863089 Epub 2022 Mar 21
View PubMed
Lucien F, Benarroch EE, Mullan A, Ali F, Boeve BF, Mielke MM, Petersen RC, Kim Y, Stang C, Camerucci E, Ross OA, Wszolek ZK, Knopman D, Bower J, Singer W, Savica R. Poly (ADP-Ribose) and alpha-synuclein extracellular vesicles in patients with Parkinson disease: A possible biomarker of disease severity. PLoS One. 2022; 17 (4):e0264446 Epub 2022 Apr 08
View PubMed
Zhao J, Lu W, Ren Y, Fu Y, Martens YA, Shue F, Davis MD, Wang X, Chen K, Li F, Liu CC, Graff-Radford NR, Wszolek ZK, Younkin SG, Brafman DA, Ertekin-Taner N, Asmann YW, Dickson DW, Xu Z, Pan M, Han X, Kanekiyo T, Bu G. Correction to: Apolipoprotein E regulates lipid metabolism and alphaâ€‘synuclein pathology in human iPSCâ€‘derived cerebral organoids. Acta Neuropathol. 2022 Jan; 143 (1):119-121
View PubMed
Dulski J, Uitti RJ, Ross OA, Wszolek ZK. Genetic architecture of Parkinson's disease subtypes - Review of the literature. Front Aging Neurosci. 2022; 14:1023574 Epub 2022 Oct 20
View PubMed
Wszolek ZK, Stolarczyk L, Slawek J. Editorial announcement on status of Polish Journal of Neurology and Neurosurgery. Neurol Neurochir Pol. 2022; 56 (4):295-296
View PubMed
Dulski J, Cerquera-Cleves C, Milanowski L, Kidd A, Sitek EJ, Strongosky A, Vanegas Monroy AM, Dickson DW, Ross OA, Pentela-Nowicka J, Slawek J, Wszolek ZK. Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review. Eur J Neurol. 2021 Dec; 28 (12):4010-4021 Epub 2021 Aug 26
View PubMed
Tipton PW, Kenney-Jung D, Rush BK, Middlebrooks EH, Nascene D, Singh B, Holtan S, Ayala E, Broderick DF, Lund T, Wszolek ZK. Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground. Mov Disord. 2021 Dec; 36 (12):2901-2909 Epub 2021 July 30
View PubMed
Zhao J, Lu W, Ren Y, Fu Y, Martens YA, Shue F, Davis MD, Wang X, Chen K, Li F, Liu CC, Graff-Radford NR, Wszolek ZK, Younkin SG, Brafman DA, Ertekin-Taner N, Asmann YW, Dickson DW, Xu Z, Pan M, Han X, Kanekiyo T, Bu G. Apolipoprotein E regulates lipid metabolism and alpha-synuclein pathology in human iPSC-derived cerebral organoids. Acta Neuropathol. 2021 Nov; 142 (5):807-825 Epub 2021 Aug 28
View PubMed
Liu CC, Murray ME, Li X, Zhao N, Wang N, Heckman MG, Shue F, Martens Y, Li Y, Raulin AC, Rosenberg CL, Doss SV, Zhao J, Wren MC, Jia L, Ren Y, Ikezu TC, Lu W, Fu Y, Caulfield T, Trottier ZA, Knight J, Chen Y, Linares C, Wang X, Kurti A, Asmann YW, Wszolek ZK, Smith GE, Vemuri P, Kantarci K, Knopman DS, Lowe VJ, Jack CR Jr, Parisi JE, Ferman TJ, Boeve BF, Graff-Radford NR, Petersen RC, Younkin SG, Fryer JD, Wang H, Han X, Frieden C, Dickson DW, Ross OA, Bu G. APOE3-Jacksonville (V236E) variant reduces self-aggregation and risk of dementia. Sci Transl Med. 2021 Sep 29; 13 (613):eabc9375 Epub 2021 Sept 29
View PubMed
Watzlawik JO, Hou X, Truban D, Fricova D, Ramnarine C, Barodia SK, Gendron TF, Heckman MG, DeTure M, Siuda J, Wszolek ZK, Scherzer CR, Ross OA, Bu G, Dickson DW, Goldberg MS, Fiesel FC, Springer W. Sensitive ELISA-based detection method for the mitophagy marker p-S65-Ub in human cells, autopsy brain, and blood samples. Autophagy. 2021 Sep; 17 (9):2613-2628 Epub 2020 Oct 28
View PubMed
Koike Y, Jansen-West KR, Hanna Al-Shaikh R, Carlomagno Y, Song Y, Dunmore JA, LeDoux MS, Friedman JH, Pena AB, Uitti RJ, Zaremba J, van Gerpen JA, Pfeiffer RF, Veerappan V, Aiba I, Hashimoto R, Giles SS, Shah JS, Tipton PW, Huang JF, Wierenga KJ, Aasly J, Fryer JD, Petrucelli L, Wszolek ZK, Prudencio M. Urine levels of the polyglutamine ataxin-3 protein are elevated in patients with spinocerebellar ataxia type 3. Parkinsonism Relat Disord. 2021 Aug; 89:151-154 Epub 2021 July 17
View PubMed
Koga S, Cheshire WP, Tipton PW, Driver-Dunckley ED, Wszolek ZK, Uitti RJ, Graff-Radford NR, van Gerpen JA, Dickson DW. Clinical features of autopsy-confirmed multiple system atrophy in the Mayo Clinic Florida brain bank. Parkinsonism Relat Disord. 2021 Aug; 89:155-161 Epub 2021 July 10
View PubMed
Prudencio M, Erben Y, Marquez CP, Jansen-West KR, Franco-Mesa C, Heckman MG, White LJ, Dunmore JA, Cook CN, Lilley MT, Song Y, Harlow CF, Oskarsson B, Nicholson KA, Wszolek ZK, Hickson LJ, O'Horo JC, Hoyne JB, Gendron TF, Meschia JF, Petrucelli L. Serum neurofilament light protein correlates with unfavorable clinical outcomes in hospitalized patients with COVID-19. Sci Transl Med. 2021 Jul 14; 13 (602) Epub 2021 June 15
View PubMed
Lai D, Alipanahi B, Fontanillas P, Schwantes-An TH, Aasly J, Alcalay RN, Beecham GW, Berg D, Bressman S, Brice A, Brockman K, Clark L, Cookson M, Das S, Van Deerlin V, Follett J, Farrer MJ, Trinh J, Gasser T, Goldwurm S, Gustavsson E, Klein C, Lang AE, Langston JW, Latourelle J, Lynch T, Marder K, Marras C, Martin ER, McLean CY, Mejia-Santana H, Molho E, Myers RH, Nuytemans K, Ozelius L, Payami H, Raymond D, Rogaeva E, Rogers MP, Ross OA, Samii A, Saunders-Pullman R, Schule B, Schulte C, Scott WK, Tanner C, Tolosa E, Tomkins JE, Vilas D, Trojanowski JQ, Uitti R, Vance JM, Visanji NP, Wszolek ZK, Zabetian CP, Mirelman A, Giladi N, Orr Urtreger A, Cannon P, Fiske B, Foroud T, 23andMe Research Team. Genomewide Association Studies of LRRK2 Modifiers of Parkinson's Disease. Ann Neurol. 2021 Jul; 90 (1):76-88 Epub 2021 May 17
View PubMed
Zhao J, Fu Y, Yamazaki Y, Ren Y, Davis MD, Liu CC, Lu W, Wang X, Chen K, Cherukuri Y, Jia L, Martens YA, Job L, Shue F, Nguyen TT, Younkin SG, Graff-Radford NR, Wszolek ZK, Brafman DA, Asmann YW, Ertekin-Taner N, Kanekiyo T, Bu G. Author Correction: APOE4 exacerbates synapse loss and neurodegeneration in Alzheimer's disease patient iPSC-derived cerebral organoids. Nat Commun. 2021 May 5; 12 (1):2707 Epub 2021 May 05
View PubMed
Milanowski LM, Lindemann JA, Hoffman-Zacharska D, Soto-Beasley AI, Barcikowska M, Boczarska-Jedynak M, Deutschlander A, Klodowska G, Dulski J, Fedoryshyn L, Friedman A, Jamrozik Z, Janik P, Karpinsky K, Koziorowski D, Krygowska-Wajs A, Jasinska-Myga B, Opala G, Potulska-Chromik A, Pulyk A, Rektorova I, Sanotsky Y, Siuda J, Slawek J, Smilowska K, Szczechowski L, Rudzinska-Bar M, Walton RL, Ross OA, Wszolek ZK. Frequency of mutations in PRKN, PINK1, and DJ1 in Patients With Early-Onset Parkinson Disease from neighboring countries in Central Europe. Parkinsonism Relat Disord. 2021 May; 86:48-51 Epub 2021 Apr 02
View PubMed
Kouri N, Murray ME, Reddy JS, Serie DJ, Soto-Beasley A, Allen M, Carrasquillo MM, Wang X, Castanedes MC, Baker MC, Rademakers R, Uitti RJ, Graff-Radford NR, Wszolek ZK, Schellenberg GD, Crook JE, Ertekin-Taner N, Ross OA, Dickson DW. Latent trait modeling of tau neuropathology in progressive supranuclear palsy. Acta Neuropathol. 2021 May; 141 (5):667-680 Epub 2021 Feb 26
View PubMed
Wernick AI, Walton RL, Soto-Beasley AI, Koga S, Ren Y, Heckman MG, Milanowski LM, Valentino RR, Kondru N, Uitti RJ, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA. Investigating ELOVL7 coding variants in multiple system atrophy. Neurosci Lett. 2021 Apr 01; 749:135723. Epub 2021 Feb 15.
View PubMed
Tipton PW, Stanley ER, Chitu V, Wszolek ZK. Is Pre-Symptomatic Immunosuppression Protective in CSF1R-Related Leukoencephalopathy? Mov Disord. 2021 Apr; 36 (4):852-856 Epub 2021 Feb 15
View PubMed
Valentino RR, Heckman MG, Johnson PW, Baker MC, Soto-Beasley AI, Walton RL, Koga S, Roemer SF, Suh E, Uitti RJ, Trojanowski JQ, Grossman M, Van Deerlin VM, Rademakers R, Wszolek ZK, Dickson DW, Ross OA. Association of Mitochondrial DNA Genomic Variation With Risk of Pick Disease. Neurology. 2021 Mar 30; 96 (13):e1755-e1760 Epub 2021 Feb 10
View PubMed
Carlomagno Y, Manne S, DeTure M, Prudencio M, Zhang YJ, Hanna Al-Shaikh R, Dunmore JA, Daughrity LM, Song Y, Castanedes-Casey M, Lewis-Tuffin LJ, Nicholson KA, Wszolek ZK, Dickson DW, Fitzpatrick AWP, Petrucelli L, Cook CN. The AD tau core spontaneously self-assembles and recruits full-length tau to filaments. Cell Rep. 2021 Mar 16; 34 (11):108843
View PubMed
Chia R, Sabir MS, Bandres-Ciga S, Saez-Atienzar S, Reynolds RH, Gustavsson E, Walton RL, Ahmed S, Viollet C, Ding J, Makarious MB, Diez-Fairen M, Portley MK, Shah Z, Abramzon Y, Hernandez DG, Blauwendraat C, Stone DJ, Eicher J, Parkkinen L, Ansorge O, Clark L, Honig LS, Marder K, Lemstra A, St George-Hyslop P, Londos E, Morgan K, Lashley T, Warner TT, Jaunmuktane Z, Galasko D, Santana I, Tienari PJ, Myllykangas L, Oinas M, Cairns NJ, Morris JC, Halliday GM, Van Deerlin VM, Trojanowski JQ, Grassano M, Calvo A, Mora G, Canosa A, Floris G, Bohannan RC, Brett F, Gan-Or Z, Geiger JT, Moore A, May P, Kruger R, Goldstein DS, Lopez G, Tayebi N, Sidransky E, Norcliffe-Kaufmann L, Palma JA, Kaufmann H, Shakkottai VG, Perkins M, Newell KL, Gasser T, Schulte C, Landi F, Salvi E, Cusi D, Masliah E, Kim RC, Caraway CA, Monuki ES, Brunetti M, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Flanagan ME, Mao Q, Bigio EH, Rodriguez-Rodriguez E, Infante J, Lage C, Gonzalez-Aramburu I, Sanchez-Juan P, Ghetti B, Keith J, Black SE, Masellis M, Rogaeva E, Duyckaerts C, Brice A, Lesage S, Xiromerisiou G, Barrett MJ, Tilley BS, Gentleman S, Logroscino G, Serrano GE, Beach TG, McKeith IG, Thomas AJ, Attems J, Morris CM, Palmer L, Love S, Troakes C, Al-Sarraj S, Hodges AK, Aarsland D, Klein G, Kaiser SM, Woltjer R, Pastor P, Bekris LM, Leverenz JB, Besser LM, Kuzma A, Renton AE, Goate A, Bennett DA, Scherzer CR, Morris HR, Ferrari R, Albani D, Pickering-Brown S, Faber K, Kukull WA, Morenas-Rodriguez E, Lleo A, Fortea J, Alcolea D, Clarimon J, Nalls MA, Ferrucci L, Resnick SM, Tanaka T, Foroud TM, Graff-Radford NR, Wszolek ZK, Ferman T, Boeve BF, Hardy JA, Topol EJ, Torkamani A, Singleton AB, Ryten M, Dickson DW, Chio A, Ross OA, Gibbs JR, Dalgard CL, Traynor BJ, Scholz SW, American Genome Center. Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture. Nat Genet. 2021 Mar; 53 (3):294-303 Epub 2021 Feb 15
View PubMed
Heckman MG, Labbe C, Kolicheski AL, Soto-Beasley AI, Walton RL, Valentino RR, Brennan ER, Johnson PW, Baheti S, Sarangi V, Ren Y, Uitti RJ, Wszolek ZK, Ross OA. Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease. Parkinsonism Relat Disord. 2021 Feb; 83:22-30 Epub 2021 Jan 11
View PubMed
Wernick AI, Walton RL, Soto-Beasley AI, Koga S, Heckman MG, Valentino RR, Milanowski LM, Hoffman-Zacharska D, Koziorowski D, Hassan A, Uitti RJ, Cheshire WP, Singer W, Wszolek ZK, Dickson DW, Low PA, Ross OA. Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy. Clin Auton Res. 2021 Feb; 31 (1):117-125 Epub 2021 Jan 27
View PubMed
Papapetropoulos S, Pontius A, Finger E, Karrenbauer V, Lynch DS, Brennan M, Zappia S, Koehler W, Schoels L, Hayer SN, Konno T, Ikeuchi T, Lund T, Orthmann-Murphy J, Eichler F, Wszolek ZK. Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia: Review of Clinical Manifestations as Foundations for Therapeutic Development. Front Neurol. 2021; 12:788168 Epub 2022 Feb 03
View PubMed
Wszolek ZK, Stolarczyk L, Slawek J. Message from the Editors of the Polish Journal of Neurology and Neurosurgery to the Authors of our Invited Editorials and Invited Reviews, and to our Reviewers. Neurol Neurochir Pol. 2021; 55 (1):1-4
View PubMed
Wszolek ZK, Stolarczyk L, Slawek J. Editors of the Polish Journal of Neurology and Neurosurgery announce the first issue featuring a Leading Topic. Neurol Neurochir Pol. 2021; 55 (2):119
View PubMed
Wszolek ZK, Stolarczyk L. Professor Jaroslaw Slawek elected Secretary of the International Association of Parkinsonism and Related Disorders. Neurol Neurochir Pol. 2021; 55 (5):415
View PubMed
Tipton PW, Bulbul N, Crook J, Quicksall Z, Ross OA, Uitti RJ, Wszolek ZK, Ertekin-Taner N. Effects of sex and APOE on Parkinson's Disease-related cognitive decline. Neurol Neurochir Pol. 2021; 55 (6):559-566 Epub 2021 Oct 13
View PubMed
Wszolek ZK, Stolarczyk L, Slawek J. Editorial Board meeting of the Polish Journal of Neurology and Neurosurgery - announcement of the gold open access for the journal. Neurol Neurochir Pol. 2021; 55 (3):237-238
View PubMed
Wszolek ZK, Stolarczyk L, Slawek J. Latest bibliometric factors for the Polish Journal of Neurology and Neurosurgery. Neurol Neurochir Pol. 2021; 55 (4):329-330
View PubMed
Wszolek ZK. First Polish case of CSF1R-related leukoencephalopathy. Neurol Neurochir Pol. 2021; 55 (3):239-240 Epub 2021 June 07
View PubMed
Koga S, Dickson DW, Wszolek ZK. Capgras syndrome in dementia with Lewy bodies: a possible association of severe cortical Lewy body pathology. Neurol Neurochir Pol. 2021; 55 (6):592-594 Epub 2021 Nov 30
View PubMed
Chu SA, Flagan TM, Staffaroni AM, Jiskoot LC, Deng J, Spina S, Zhang L, Sturm VE, Yokoyama JS, Seeley WW, Papma JM, Geschwind DH, Rosen HJ, Boeve BF, Boxer AL, Heuer HW, Forsberg LK, Brushaber DE, Grossman M, Coppola G, Dickerson BC, Bordelon YM, Faber K, Feldman HH, Fields JA, Fong JC, Foroud T, Gavrilova RH, Ghoshal N, Graff-Radford NR, Hsiung GR, Huey ED, Irwin DJ, Kantarci K, Kaufer DI, Karydas AM, Knopman DS, Kornak J, Kramer JH, Kukull WA, Lapid MI, Litvan I, Mackenzie IRA, Mendez MF, Miller BL, Onyike CU, Pantelyat AY, Rademakers R, Marisa Ramos E, Roberson ED, Carmela Tartaglia M, Tatton NA, Toga AW, Vetor A, Weintraub S, Wong B, Wszolek ZK, Van Swieten JC, Lee SE, ARTFL/LEFFTDS Consortium. Brain volumetric deficits in MAPT mutation carriers: a multisite study. Ann Clin Transl Neurol. 2021 Jan; 8 (1):95-110 Epub 2020 Nov 28
View PubMed
Milanowski LM, Ross OA, Friedman A, Hoffman-Zacharska D, Gorka-Skoczylas P, Jurek M, Koziorowski D, Wszolek ZK. Genetics of Parkinson's disease in the Polish population. Neurol Neurochir Pol. 2021; 55 (3):241-252 Epub 2021 Feb 04
View PubMed
Han J, Sarlus H, Wszolek ZK, Karrenbauer VD, Harris RA. Microglial replacement therapy: a potential therapeutic strategy for incurable CSF1R-related leukoencephalopathy. Acta Neuropathol Commun. 2020 Dec 7; 8 (1):217 Epub 2020 Dec 07
View PubMed
Valentino RR, Koga S, Walton RL, Soto-Beasley AI, Kouri N, DeTure MA, Murray ME, Johnson PW, Petersen RC, Boeve BF, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA, Heckman MG. MAPT subhaplotypes in corticobasal degeneration: assessing associations with disease risk, severity of tau pathology, and clinical features. Acta Neuropathol Commun. 2020 Dec 7; 8 (1):218 Epub 2020 Dec 07
View PubMed
Ikezu T, Koro L, Wolozin B, Farraye FA, Strongosky AJ, Wszolek ZK. Crohn's and Parkinson's Disease-Associated LRRK2 Mutations Alter Type II Interferon Responses in Human CD14(+) Blood Monocytes Ex Vivo. J Neuroimmune Pharmacol. 2020 Dec; 15 (4):794-800 Epub 2020 Mar 16
View PubMed
Valentino RR, Heckman MG, Johnson PW, Soto-Beasley AI, Walton RL, Koga S, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA. Association of mitochondrial genomic background with risk of Multiple System Atrophy. Parkinsonism Relat Disord. 2020 Dec; 81:200-204 Epub 2020 Oct 29
View PubMed
Gendron TF, Badi MK, Heckman MG, Jansen-West KR, Vilanilam GK, Johnson PW, Burch AR, Walton RL, Ross OA, Brott TG, Miller TM, Berry JD, Nicholson KA, Wszolek ZK, Oskarsson BE, Sheth KN, Sansing LH, Falcone GJ, Cucchiara BL, Meschia JF, Petrucelli L. Plasma neurofilament light predicts mortality in patients with stroke. Sci Transl Med. 2020 Nov 11; 12 (569)
View PubMed
Zhao J, Fu Y, Yamazaki Y, Ren Y, Davis MD, Liu CC, Lu W, Wang X, Chen K, Cherukuri Y, Jia L, Martens YA, Job L, Shue F, Nguyen TT, Younkin SG, Graff-Radford NR, Wszolek ZK, Brafman DA, Asmann YW, Ertekin-Taner N, Kanekiyo T, Bu G. APOE4 exacerbates synapse loss and neurodegeneration in Alzheimer's disease patient iPSC-derived cerebral organoids. Nat Commun. 2020 Nov 2; 11 (1):5540 Epub 2020 Nov 02
View PubMed
Strickland SL, Morel H, Prusinski C, Allen M, Patel TA, Carrasquillo MM, Conway OJ, Lincoln SJ, Reddy JS, Nguyen T, Malphrus KG, Soto AI, Walton RL, Crook JE, Murray ME, Boeve BF, Petersen RC, Lucas JA, Ferman TJ, Uitti RJ, Wszolek ZK, Ross OA, Graff-Radford NR, Dickson DW, Ertekin-Taner N. Association of ABI3 and PLCG2 missense variants with disease risk and neuropathology in Lewy body disease and progressive supranuclear palsy. Acta Neuropathol Commun. 2020 Oct 22; 8 (1):172
View PubMed
Prudencio M, Garcia-Moreno H, Jansen-West KR, Al-Shaikh RH, Gendron TF, Heckman MG, Spiegel MR, Carlomagno Y, Daughrity LM, Song Y, Dunmore JA, Byron N, Oskarsson B, Nicholson KA, Staff NP, Gorcenco S, Puschmann A, Lemos J, Januário C, LeDoux MS, Friedman JH, Polke J, Labrum R, Shakkottai V, McLoughlin HS, Paulson HL, Konno T, Onodera O, Ikeuchi T, Tada M, Kakita A, Fryer JD, Karremo C, Gomes I, Caviness JN, Pittelkow MR, Aasly J, Pfeiffer RF, Veerappan V, Eggenberger ER, Freeman WD, Huang JF, Uitti RJ, Wierenga KJ, Marin Collazo IV, Tipton PW, van Gerpen JA, van Blitterswijk M, Bu G, Wszolek ZK, Giunti P, Petrucelli L. Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3. Sci Transl Med. 2020 Oct 21; 12(566).
View PubMed
Staffaroni AM, Goh SM, Cobigo Y, Ong E, Lee SE, Casaletto KB, Wolf A, Forsberg LK, Ghoshal N, Graff-Radford NR, Grossman M, Heuer HW, Hsiung GR, Kantarci K, Knopman DS, Kremers WK, Mackenzie IR, Miller BL, Pedraza O, Rascovsky K, Tartaglia MC, Wszolek ZK, Kramer JH, Kornak J, Boeve BF, Boxer AL, Rosen HJ, ARTFL-LEFFTDS Longitudinal Frontotemporal Lobar Degeneration Consortium. Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants. JAMA Netw Open. 2020 Oct 1; 3 (10):e2022847 Epub 2020 Oct 01
View PubMed
Valentino RR, Tamvaka N, Heckman MG, Johnson PW, Soto-Beasley AI, Walton RL, Koga S, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA. Associations of mitochondrial genomic variation with corticobasal degeneration, progressive supranuclear palsy, and neuropathological tau measures. Acta Neuropathol Commun. 2020 Sep 17; 8 (1):162 Epub 2020 Sept 17
View PubMed
Kolicheski A, Walton RL, Soto-Beasley AI, Heckman MG, Uitti RJ, Parfitt F, Graff-Radford MR, Wszolek ZK, Graff-Radford NR, Ross OA. CLEC3B p.S106G Mutant in a Caucasian Population of Successful Neurological Aging. J Gerontol A Biol Sci Med Sci. 2020 Sep 16; 75 (9):1618-1623
View PubMed
Soto-Beasley AI, Walton RL, Valentino RR, Hook PW, Labbe C, Heckman MG, Johnson PW, Goff LA, Uitti RJ, McLean PJ, Springer W, McCallion AS, Wszolek ZK, Ross OA. Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease. Parkinsonism Relat Disord. 2020 Sep; 78:138-144 Epub 2020 Aug 01
View PubMed
Deutschlander AB, Konno T, Soto-Beasley AI, Walton RL, van Gerpen JA, Uitti RJ, Heckman MG, Wszolek ZK, Ross OA. Association of MAPT subhaplotypes with clinical and demographic features in Parkinson's disease. Ann Clin Transl Neurol. 2020 Sep; 7 (9):1557-1563 Epub 2020 Aug 07
View PubMed
Wernick AI, Walton RL, Koga S, Soto-Beasley AI, Heckman MG, Gan-Or Z, Ren Y, Rademakers R, Uitti RJ, Wszolek ZK, Cheshire WP, Dickson DW, Ross OA. GBA variation and susceptibility to multiple system atrophy. Parkinsonism Relat Disord. 2020 Aug; 77:64-69 Epub 2020 June 22
View PubMed
Gentry MT, Lapid MI, Syrjanen J, Calvert K, Hughes S, Brushaber D, Kremers W, Bove J, Brannelly P, Coppola G, Dheel C, Dickerson B, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova R, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Haley D, Heuer H, Hsiung GY, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Knopman D, Kornak J, Kramer J, Kukull W, Lucente D, Lungu C, Mackenzie I, Manoochehri M, McGinnis S, Miller B, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Sengdy P, Shaw L, Tatton N, Taylor J, Toga A, Trojanowski J, Weintraub S, Wong B, Wszolek Z, Boeve BF, Boxer A, Rosen H, LEFFTDS Consortium. Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohort. Alzheimers Dement. 2020 Aug; 16 (8):1115-1124 Epub 2020 July 13
View PubMed
Milanowski L, Sitek EJ, Dulski J, Cerquera-Cleves C, Gomez JD, Brockhuis B, Schinwelski M, Kluj-Kozlowska K, Ross OA, Slawek J, Wszolek ZK. Cognitive and behavioral profile of Perry syndrome in two families. Parkinsonism Relat Disord. 2020 Aug; 77:114-120 Epub 2020 June 22
View PubMed
Ferman TJ, Aoki N, Boeve BF, Aakre JA, Kantarci K, Graff-Radford J, Parisi JE, Van Gerpen JA, Graff-Radford NR, Uitti RJ, Pedraza O, Murray ME, Wszolek ZK, Reichard RR, Fields JA, Ross OA, Knopman DS, Petersen RC, Dickson DW. Subtypes of dementia with Lewy bodies are associated with alpha-synuclein and tau distribution. Neurology. 2020 Jul 14; 95 (2):e155-e165 Epub 2020 June 19
View PubMed
Sakae N, Santos OA, Pedraza O, Litvan I, Murray ME, Duara R, Uitti RJ, Wszolek ZK, Graff-Radford NR, Josephs KA, Dickson DW. Clinical and pathologic features of cognitive-predominant corticobasal degeneration. Neurology. 2020 Jul 7; 95 (1):e35-e45 Epub 2020 June 09
View PubMed
Kempthorne L, Yoon H, Madore C, Smith S, Wszolek ZK, Rademakers R, Kim J, Butovsky O, Dickson DW. Correction to: Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy. Acta Neuropathol Commun. 2020 Jun 24; 8 (1):90 Epub 2020 June 24
View PubMed
Kempthorne L, Yoon H, Madore C, Smith S, Wszolek ZK, Rademakers R, Kim J, Butovsky O, Dickson DW. Loss of homeostatic microglial phenotype in CSF1R-related Leukoencephalopathy. Acta Neuropathol Commun. 2020 May 19; 8 (1):72
View PubMed
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernandez I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleo A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illan-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodriguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodriguez Rodriguez E, Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tarraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sorensen TIA, Heutink P, Sanchez-Juan P, Posthuma D, Clarimon J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H, DESGESCO (Dementia Genetics Spanish Consortium)//EADB (Alzheimer Disease European DNA biobank)//IFGC (International FTD-Genomics Consortium)//IPDGC (The International Parkinson Disease Genomics Consortium)//RiMod-FTD (Risk and Modifying factors in Fronto-Temporal Dementia)//Netherlands Brain Bank . Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathol. 2020 May; 139 (5):959-962
View PubMed
Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford N, Jack CR Jr, Jones D, Knopman D, Kremers WK, Lapid M, Rademakers R, Ramos EM, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K. Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study. Neurobiol Aging. 2020 Apr; 88:42-50 Epub 2019 Dec 12
View PubMed
Chitu V, Biundo F, Shlager GGL, Park ES, Wang P, Gulinello ME, Gokhan S, Ketchum HC, Saha K, DeTure MA, Dickson DW, Wszolek ZK, Zheng D, Croxford AL, Becher B, Sun D, Mehler MF, Stanley ER. Microglial Homeostasis Requires Balanced CSF-1/CSF-2 Receptor Signaling. Cell Rep. 2020 Mar 3; 30 (9):3004-3019.e5
View PubMed
Moore KM, Nicholas J, Grossman M, McMillan CT, Irwin DJ, Massimo L, Van Deerlin VM, Warren JD, Fox NC, Rossor MN, Mead S, Bocchetta M, Boeve BF, Knopman DS, Graff-Radford NR, Forsberg LK, Rademakers R, Wszolek ZK, van Swieten JC, Jiskoot LC, Meeter LH, Dopper EG, Papma JM, Snowden JS, Saxon J, Jones M, Pickering-Brown S, Le Ber I, Camuzat A, Brice A, Caroppo P, Ghidoni R, Pievani M, Benussi L, Binetti G, Dickerson BC, Lucente D, Krivensky S, Graff C, Oijerstedt L, Fallstrom M, Thonberg H, Ghoshal N, Morris JC, Borroni B, Benussi A, Padovani A, Galimberti D, Scarpini E, Fumagalli GG, Mackenzie IR, Hsiung GR, Sengdy P, Boxer AL, Rosen H, Taylor JB, Synofzik M, Wilke C, Sulzer P, Hodges JR, Halliday G, Kwok J, Sanchez-Valle R, Llado A, Borrego-Ecija S, Santana I, Almeida MR, Tabuas-Pereira M, Moreno F, Barandiaran M, Indakoetxea B, Levin J, Danek A, Rowe JB, Cope TE, Otto M, Anderl-Straub S, de Mendonca A, Maruta C, Masellis M, Black SE, Couratier P, Lautrette G, Huey ED, Sorbi S, Nacmias B, Laforce R Jr, Tremblay ML, Vandenberghe R, Damme PV, Rogalski EJ, Weintraub S, Gerhard A, Onyike CU, Ducharme S, Papageorgiou SG, Ng ASL, Brodtmann A, Finger E, Guerreiro R, Bras J, Rohrer JD, FTD Prevention Initiative. Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study. Lancet Neurol. 2020 Feb; 19 (2):145-156 Epub 2019 Dec 03
View PubMed
Wszolek ZK, Slawek J. Polish Journal of Neurology and Neurosurgery (Neurologia i Neurochirurgia Polska) - a publication of increasing national and international stature. Neurol Neurochir Pol 2020; 54 (1):1-2
View PubMed
Hanna Al-Shaikh R, Wernick AI, Strongosky AJ, Soto-Beasley AI, van Gerpen JA, Cheshire WP, Uitti RJ, Ross OA, Wszolek ZK. Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy. Neurol Neurochir Pol. 2020; 54 (4):350-355 Epub 2020 July 20
View PubMed
Tipton PW, Wszolek ZK. Response to "Does amantadine have a protective effect against COVID-19?" Neurol Neurochir Pol 2020; 54 (3):286-287 Epub 2020 June 25
View PubMed
Tipton PW, Wszolek ZK. What can Parkinson's disease teach us about COVID-19? Neurol Neurochir Pol. 2020; 54 (2):204-206 Epub 2020 Apr 23
View PubMed
Olney NT, Ong E, Goh SM, Bajorek L, Dever R, Staffaroni AM, Cobigo Y, Bock M, Chiang K, Ljubenkov P, Kornak J, Heuer HW, Wang P, Rascovsky K, Wolf A, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dickerson BC, Dickinson S, Domoto-Reilly K, Faber K, Ferrall J, Fields J, Fishman A, Fong J, Foroud T, Forsberg LK, Gearhart DJ, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford NR, Grant I, Grossman M, Haley D, Hsiung G, Huey ED, Irwin DJ, Jones DT, Kantarci K, Karydas AM, Kaufer D, Kerwin D, Knopman DS, Kramer JH, Kraft R, Kremers W, Kukull W, Lapid MI, Litvan I, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley EC, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wong B, Wszolek Z, Boxer AL, Boeve BF, Rosen HJ, ARTFL and LEFFTDS consortia. Clinical and volumetric changes with increasing functional impairment in familial frontotemporal lobar degeneration. Alzheimers Dement. 2020 Jan; 16 (1):49-59 Epub 2020 Jan 06
View PubMed
Ramos EM, Dokuru DR, Van Berlo V, Wojta K, Wang Q, Huang AY, Deverasetty S, Qin Y, van Blitterswijk M, Jackson J, Appleby B, Bordelon Y, Brannelly P, Brushaber DE, Dickerson B, Dickinson S, Domoto-Reilly K, Faber K, Fields J, Fong J, Foroud T, Forsberg LK, Gavrilova R, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Heuer HW, Hsiung GR, Huey E, Irwin D, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kornak J, Kramer JH, Kremers W, Kukull W, Litvan I, Ljubenkov P, Lungu C, Mackenzie I, Mendez MF, Miller BL, Onyike C, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Shaw L, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wong B, Wszolek Z, Rademakers R, Boeve BF, Rosen HJ, Boxer AL, Coppola G, ARTFL/LEFFTDS consortium. Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases. Alzheimers Dement. 2020 Jan; 16 (1):118-130
View PubMed
Miyagawa T, Brushaber D, Syrjanen J, Kremers W, Fields J, Forsberg LK, Heuer HW, Knopman D, Kornak J, Boxer A, Rosen HJ, Boeve BF, Appleby B, Bordelon Y, Bove J, Brannelly P, Caso C, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrell J, Fishman A, Fong J, Foroud T, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman JS, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung R, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Kaufer D, Kerwin D, Kraft R, Kramer J, Kukull W, Litvan I, Lucente D, Lungu C, Mackenzie I, Maldonado M, Manoochehri M, McGinnis S, McKinley E, Mendez MF, Miller B, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw L, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Wang P, Weintraub S, Wong B, Wszolek Z. Utility of the global CDR((R)) plus NACC FTLD rating and development of scoring rules: Data from the ARTFL/LEFFTDS Consortium. Alzheimers Dement. 2020 Jan; 16 (1):106-117
View PubMed
Staffaroni AM, Bajorek L, Casaletto KB, Cobigo Y, Goh SM, Wolf A, Heuer HW, Elahi FM, Ljubenkov PA, Dever R, Kornak J, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kremers WK, Kukull WA, Litvan I, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Kramer JH, Rosen HJ, ARTFL/LEFFTDS consortium. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimers Dement. 2020 Jan; 16 (1):11-21
View PubMed
Wszolek ZK, Stolarczyk L, Slawek J. Polish Journal of Neurology and Neurosurgery (Neurologia i Neurochirurgia Polska) - update on publication status. Neurol Neurochir Pol. 2020; 54 (6):483-485
View PubMed
Wszolek ZK, Stolarczyk L, Slawek J. Further Increase of Impact Factor and CiteScore of the Polish Journal of Neurology and Neurosurgery (Neurologia i Neurochirurgia Polska). Neurol Neurochir Pol. 2020; 54 (4):289-290
View PubMed
Wszolek ZK, Milanowski L. DYSAUTONOMIA IN INHERITED PARKINSON DISEASE. Wiad Lek. 2020; 73 (9 cz. 2):2098-2100
View PubMed
Milanowski LM, Oshinaike O, Broadway BJ, Lindemann JA, Soto-Beasley AI, Walton RL, Hanna Al-Shaikh R, Strongosky AJ, Fiesel FC, Ross OA, Springer W, Ogun SA, Wszolek ZK. Early-Onset Parkinson Disease Screening in Patients From Nigeria. Front Neurol. 2020; 11:594927 Epub 2021 Jan 14
View PubMed
Staffaroni AM, Cobigo Y, Goh SM, Kornak J, Bajorek L, Chiang K, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dever R, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Heuer HW, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kramer JH, Kremers WK, Kukull WA, Litvan I, Ljubenkov PA, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Rosen HJ, ARTFL/LEFFTDS consortium. Individualized atrophy scores predict dementia onset in familial frontotemporal lobar degeneration. Alzheimers Dement. 2020 Jan; 16 (1):37-48 Epub 2020 Jan 06
View PubMed
Boeve B, Bove J, Brannelly P, Brushaber D, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova R, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grossman M, Haley D, Heuer H, Hsiung GR, Huey E, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Knopman D, Kornak J, Kraft R, Kramer J, Kremers W, Kukull W, Lapid M, Lucente D, Mackenzie I, Manoochehri M, McGinnis S, Miller B, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Sengdy P, Shaw L, Syrjanen J, Tatton N, Taylor J, Toga A, Trojanowski J, Weintraub S, Wong B, Wszolek Z, Boxer A, Rosen H, LEFFTDS Consortium. The longitudinal evaluation of familial frontotemporal dementia subjects protocol: Framework and methodology. Alzheimers Dement. 2020 Jan; 16 (1):22-36 Epub 2020 Jan 06
View PubMed
Hsieh CH, Li L, Vanhauwaert R, Nguyen KT, Davis MD, Bu G, Wszolek ZK, Wang X. Miro1 Marks Parkinson's Disease Subset and Miro1 Reducer Rescues Neuron Loss in Parkinson's Models. Cell Metab. 2019 Dec 3; 30 (6):1131-1140.e7 Epub 2019 Sept 26
View PubMed
O'Bryant SE, Ferman TJ, Zhang F, Hall J, Pedraza O, Wszolek ZK, Como T, Julovich D, Mattevada S, Johnson LA, Edwards M, Hall J, Graff-Radford NR. A proteomic signature for dementia with Lewy bodies. Alzheimers Dement (Amst). 2019 Dec; 11:270-276 Epub 2019 Mar 15
View PubMed
Kornak J, Fields J, Kremers W, Farmer S, Heuer HW, Forsberg L, Brushaber D, Rindels A, Dodge H, Weintraub S, Besser L, Appleby B, Bordelon Y, Bove J, Brannelly P, Caso C, Coppola G, Dever R, Dheel C, Dickerson B, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fishman A, Fong J, Foroud T, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant IM, Grossman M, Haley D, Hsiao J, Hsiung R, Huey ED, Irwin D, Jones D, Jones L, Kantarci K, Karydas A, Kaufer D, Kerwin D, Knopman D, Kraft R, Kramer J, Kukull W, Lapid M, Litvan I, Ljubenkov P, Lucente D, Lungu C, Mackenzie I, Maldonado M, Manoochehri M, McGinnis S, McKinley E, Mendez M, Miller B, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin K, Rascovsky K, Roberson ED, Rogalski-Miller E, Sengdy P, Shaw L, Staffaroni AM, Sutherland M, Syrjanen J, Tartaglia C, Tatton N, Taylor J, Toga A, Trojanowski J, Wang P, Wong B, Wszolek Z, Boeve B, Boxer A, Rosen H, ARTFL/LEFFTDS Consortium. Nonlinear Z-score modeling for improved detection of cognitive abnormality. Alzheimers Dement (Amst). 2019 Dec; 11:797-808 Epub 2019 Dec 05
View PubMed
Sakae N, Josephs KA, Litvan I, Murray ME, Duara R, Uitti RJ, Wszolek ZK, Graff-Radford NR, Dickson DW. Neuropathologic basis of frontotemporal dementia in progressive supranuclear palsy. Mov Disord. 2019 Nov; 34 (11):1655-1662 Epub 2019 Aug 21
View PubMed
Chen Q, Boeve BF, Schwarz CG, Reid R, Tosakulwong N, Lesnick TG, Bove J, Brannelly P, Brushaber D, Coppola G, Dheel C, Dickerson BC, Dickinson S, Faber K, Fields J, Fong J, Foroud T, Forsberg L, Gavrilova RH, Gearhart D, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford NR, Grossman M, Haley D, Heuer HW, Hsiung GR, Huey E, Irwin DJ, Jack CR, Jones DT, Jones L, Karydas AM, Knopman DS, Kornak J, Kramer J, Kremers W, Kukull WA, Lapid M, Lucente D, Lungu C, Mackenzie IRA, Manoochehri M, McGinnis S, Miller BL, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Sengdy P, Shaw L, Syrjanen J, Tatton N, Taylor J, Toga AW, Trojanowski J, Weintraub S, Wong B, Boxer AL, Rosen H, Wszolek Z, Kantarci K, LEFFTDS Consortium. Tracking white matter degeneration in asymptomatic and symptomatic MAPT mutation carriers. Neurobiol Aging. 2019 Nov; 83:54-62 Epub 2019 Aug 15
View PubMed
van Gerpen JA, Al-Shaikh RH, Tipton PW, Wszolek ZK, Uitti RJ, Ferman TJ, Dickson DW, Benarroch EE, Singer W, Cutsforth-Gregory JK, Heckman MG, Brushaber DE, Josephs KA, Low PA, Ahlskog JE, Cheshire WP. Progressive supranuclear palsy is not associated with neurogenic orthostatic hypotension. Neurology. 2019 Oct 1; 93 (14):e1339-e1347 Epub 2019 Sept 04
View PubMed
Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, Graff-Radford N, Kraft R, Lapid M, Rademakers R, Wszolek ZK, Rosen H, Boxer AL, Kantarci K. Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. J Neuroimaging. 2019 Sep; 29 (5):624-629 Epub 2019 June 07
View PubMed
Sakae N, Josephs KA, Litvan I, Murray ME, Duara R, Uitti RJ, Wszolek ZK, van Gerpen J, Graff-Radford NR, Dickson DW. Clinicopathologic subtype of Alzheimer's disease presenting as corticobasal syndrome. Alzheimers Dement. 2019 Sep; 15 (9):1218-1228 Epub 2019 Aug 06
View PubMed
Chen Q, Boeve BF, Tosakulwong N, Lesnick T, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Haley D, Gunter JL, Graff-Radford J, Jones D, Knopman D, Graff-Radford N, Kraft R, Lapid M, Rademakers R, Syrjanen J, Wszolek ZK, Rosen H, Boxer AL, Kantarci K. Frontal lobe (1)H MR spectroscopy in asymptomatic and symptomatic MAPT mutation carriers. Neurology. 2019 Aug 20; 93 (8):e758-e765 Epub 2019 July 17
View PubMed
van der Lee SJ, Conway OJ, Jansen I, Carrasquillo MM, Kleineidam L, van den Akker E, Hernandez I, van Eijk KR, Stringa N, Chen JA, Zettergren A, Andlauer TFM, Diez-Fairen M, Simon-Sanchez J, Lleo A, Zetterberg H, Nygaard M, Blauwendraat C, Savage JE, Mengel-From J, Moreno-Grau S, Wagner M, Fortea J, Keogh MJ, Blennow K, Skoog I, Friese MA, Pletnikova O, Zulaica M, Lage C, de Rojas I, Riedel-Heller S, Illan-Gala I, Wei W, Jeune B, Orellana A, Then Bergh F, Wang X, Hulsman M, Beker N, Tesi N, Morris CM, Indakoetxea B, Collij LE, Scherer M, Morenas-Rodriguez E, Ironside JW, van Berckel BNM, Alcolea D, Wiendl H, Strickland SL, Pastor P, Rodriguez Rodriguez E, Boeve BF, Petersen RC, Ferman TJ, van Gerpen JA, Reinders MJT, Uitti RJ, Tarraga L, Maier W, Dols-Icardo O, Kawalia A, Dalmasso MC, Boada M, Zettl UK, van Schoor NM, Beekman M, Allen M, Masliah E, de Munain AL, Pantelyat A, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Knopman D, Rademakers R, Lemstra AW, Pijnenburg YAL, Scheltens P, Gasser T, Chinnery PF, Hemmer B, Huisman MA, Troncoso J, Moreno F, Nohr EA, Sorensen TIA, Heutink P, Sanchez-Juan P, Posthuma D, Clarimon J, Christensen K, Ertekin-Taner N, Scholz SW, Ramirez A, Ruiz A, Slagboom E, van der Flier WM, Holstege H, DESGESCO (Dementia Genetics Spanish Consortium), EADB (Alzheimer Disease European DNA biobank)//EADB (Alzheimer Disease European DNA biobank)//IFGC (International FTD-Genomics Consortium), IPDGC (The International Parkinson Disease Genomics Consortium)//IPDGC (The International Parkinson Disease G. A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity. Acta Neuropathol. 2019 Aug; 138 (2):237-250 Epub 2019 May 27
View PubMed
Pottier C, Ren Y, Perkerson RB 3rd, Baker M, Jenkins GD, van Blitterswijk M, DeJesus-Hernandez M, van Rooij JGJ, Murray ME, Christopher E, McDonnell SK, Fogarty Z, Batzler A, Tian S, Vicente CT, Matchett B, Karydas AM, Hsiung GR, Seelaar H, Mol MO, Finger EC, Graff C, Oijerstedt L, Neumann M, Heutink P, Synofzik M, Wilke C, Prudlo J, Rizzu P, Simon-Sanchez J, Edbauer D, Roeber S, Diehl-Schmid J, Evers BM, King A, Mesulam MM, Weintraub S, Geula C, Bieniek KF, Petrucelli L, Ahern GL, Reiman EM, Woodruff BK, Caselli RJ, Huey ED, Farlow MR, Grafman J, Mead S, Grinberg LT, Spina S, Grossman M, Irwin DJ, Lee EB, Suh E, Snowden J, Mann D, Ertekin-Taner N, Uitti RJ, Wszolek ZK, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Hodges JR, Piguet O, Geier EG, Yokoyama JS, Rissman RA, Rogaeva E, Keith J, Zinman L, Tartaglia MC, Cairns NJ, Cruchaga C, Ghetti B, Kofler J, Lopez OL, Beach TG, Arzberger T, Herms J, Honig LS, Vonsattel JP, Halliday GM, Kwok JB, White CL 3rd, Gearing M, Glass J, Rollinson S, Pickering-Brown S, Rohrer JD, Trojanowski JQ, Van Deerlin V, Bigio EH, Troakes C, Al-Sarraj S, Asmann Y, Miller BL, Graff-Radford NR, Boeve BF, Seeley WW, Mackenzie IRA, van Swieten JC, Dickson DW, Biernacka JM, Rademakers R. Genome-wide analyses as part of the international FTLD-TDP whole-genome sequencing consortium reveals novel disease risk factors and increases support for immune dysfunction in FTLD. Acta Neuropathol. 2019 Jun; 137 (6):879-899 Epub 2019 Feb 09
View PubMed
Heckman MG, Brennan RR, Labbe C, Soto AI, Koga S, DeTure MA, Murray ME, Petersen RC, Boeve BF, van Gerpen JA, Uitti RJ, Wszolek ZK, Rademakers R, Dickson DW, Ross OA. Association of MAPT Subhaplotypes With Risk of Progressive Supranuclear Palsy and Severity of Tau Pathology. JAMA Neurol. 2019 Jun 1; 76 (6):710-717
View PubMed
Staffaroni AM, Bajorek L, Casaletto KB, Cobigo Y, Goh SM, Wolf A, Heuer HW, Elahi FM, Ljubenkov PA, Dever R, Kornak J, Appleby B, Bove J, Bordelon Y, Brannelly P, Brushaber D, Caso C, Coppola G, Dheel C, Dickerson BC, Dickinson S, Dominguez S, Domoto-Reilly K, Faber K, Ferrall J, Fields JA, Fishman A, Fong J, Foroud T, Forsberg LK, Gavrilova R, Gearhart D, Ghazanfari B, Ghoshal N, Goldman J, Graff-Radford J, Graff-Radford N, Grant I, Grossman M, Haley D, Hsiung GY, Huey ED, Irwin DJ, Jones DT, Jones L, Kantarci K, Karydas A, Kaufer DI, Kerwin DR, Knopman DS, Kraft R, Kremers WK, Kukull WA, Litvan I, Lucente D, Lungu C, Mackenzie IR, Maldonado M, Manoochehri M, McGinnis SM, McKinley E, Mendez MF, Miller BL, Multani N, Onyike C, Padmanabhan J, Pantelyat A, Pearlman R, Petrucelli L, Potter M, Rademakers R, Ramos EM, Rankin KP, Rascovsky K, Roberson ED, Rogalski E, Sengdy P, Shaw LM, Syrjanen J, Tartaglia MC, Tatton N, Taylor J, Toga A, Trojanowski JQ, Weintraub S, Wang P, Wong B, Wszolek Z, Boxer AL, Boeve BF, Kramer JH, Rosen HJ, ARTFL/LEFFTDS consortium. Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint. Alzheimers Dement. 2019 May 11 [Epub ahead of print]
View PubMed
Berge-Seidl V, Pihlstrom L, Wszolek ZK, Ross OA, Toft M. No evidence for DNM3 as genetic modifier of age at onset in idiopathic Parkinson's disease. Neurobiol Aging. 2019 Feb; 74:236.e1-236.e5 Epub 2018 Sept 22
View PubMed
Ando S, Konno T, Ishihara T, Hayashi H, Saito N, Nishioka K, Hattori N, Wszolek ZK, Onodera O. A patient clinically diagnosed as multiple system atrophy harboring LRRK2 p.G2019S. Clin Park Relat Disord. 2019; 1:100-101 Epub 2019 Nov 16
View PubMed
Chen Q, Boeve BF, Senjem M, Tosakulwong N, Lesnick TG, Brushaber D, Dheel C, Fields J, Forsberg L, Gavrilova R, Gearhart D, Graff-Radford J, Graff-Radford NR, Jack CR Jr, Jones DT, Knopman DS, Kremers WK, Lapid M, Rademakers R, Syrjanen J, Boxer AL, Rosen H, Wszolek ZK, Kantarci K, LEFFTDS Consortium. Rates of lobar atrophy in asymptomatic MAPT mutation carriers. Alzheimers Dement (N Y). 2019; 5:338-346 Epub 2019 July 30
View PubMed
Konno T, Kasanuki K, Ikeuchi T, Dickson DW, Wszolek ZK. CSF1R-related leukoencephalopathy: A major player in primary microgliopathies. Neurology. 2018 Dec 11; 91 (24):1092-1104 Epub 2018 Nov 14
View PubMed
McClymont SA, Hook PW, Soto AI, Reed X, Law WD, Kerans SJ, Waite EL, Briceno NJ, Thole JF, Heckman MG, Diehl NN, Wszolek ZK, Moore CD, Zhu H, Akiyama JA, Dickel DE, Visel A, Pennacchio LA, Ross OA, Beer MA, McCallion AS. Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons. Am J Hum Genet. 2018 Dec 6; 103 (6):874-892 Epub 2018 Nov 29
View PubMed
Hanna Al Shaikh R, Caulfield T, Strongosky AJ, Matthew M, Jansen-West KR, Prudencio M, Fryer JD, Petrucelli L, Uitti RJ, Wszolek ZK. TRIO gene segregation in a family with cerebellar ataxia. Neurol Neurochir Pol. 2018 Nov - Dec; 52 (6):743-749 Epub 2018 Sept 22
View PubMed
Zhao N, Liu CC, Van Ingelgom AJ, Linares C, Kurti A, Knight JA, Heckman MG, Diehl NN, Shinohara M, Martens YA, Attrebi ON, Petrucelli L, Fryer JD, Wszolek ZK, Graff-Radford NR, Caselli RJ, Sanchez-Contreras MY, Rademakers R, Murray ME, Koga S, Dickson DW, Ross OA, Bu G. APOE epsilon2 is associated with increased tau pathology in primary tauopathy. Nat Commun. 2018 Oct 22; 9 (1):4388
View PubMed
Conway OJ, Carrasquillo MM, Wang X, Bredenberg JM, Reddy JS, Strickland SL, Younkin CS, Burgess JD, Allen M, Lincoln SJ, Nguyen T, Malphrus KG, Soto AI, Walton RL, Boeve BF, Petersen RC, Lucas JA, Ferman TJ, Cheshire WP, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA, Dickson DW, Graff-Radford NR, Ertekin-Taner N. ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans. Mol Neurodegener. 2018 Oct 11; 13 (1):53
View PubMed
Miura T, Mezaki N, Konno T, Iwasaki A, Hara N, Miura M, Funayama M, Unai Y, Tashiro Y, Okita K, Kihara T, Ito N, Kanatsuka Y, Jones DT, Hara N, Ishiguro T, Tokutake T, Kasuga K, Nozaki H, Dickson DW, Onodera O, Wszolek ZK, Ikeuchi T. Identification and functional characterization of novel mutations including frameshift mutation in exon 4 of CSF1R in patients with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. J Neurol. 2018 Oct; 265 (10):2415-2424 Epub 2018 Aug 22
View PubMed
Dickson DW, Heckman MG, Murray ME, Soto AI, Walton RL, Diehl NN, van Gerpen JA, Uitti RJ, Wszolek ZK, Ertekin-Taner N, Knopman DS, Petersen RC, Graff-Radford NR, Boeve BF, Bu G, Ferman TJ, Ross OA. APOE epsilon4 is associated with severity of Lewy body pathology independent of Alzheimer pathology. Neurology. 2018 Sep 18; 91 (12):e1182-e1195 Epub 2018 Aug 24
View PubMed
Ogaki K, Heckman MG, Koga S, Martens YA, Labbe C, Lorenzo-Betancor O, Walton RL, Soto AI, Vargas ER, Fujioka S, Uitti RJ, van Gerpen JA, Cheshire WP, Younkin SG, Wszolek ZK, Low PA, Singer W, Bu G, Dickson DW, Ross OA. Association study between multiple system atrophy and TREM2 p.R47H. Neurol Genet. 2018 Aug; 4 (4):e257 Epub 2018 Aug 01
View PubMed
Kasanuki K, Josephs KA, Ferman TJ, Murray ME, Koga S, Konno T, Sakae N, Parks A, Uitti RJ, Van Gerpen JA, Graff-Radford NR, Wszolek ZK, Dickson DW. Diffuse Lewy body disease manifesting as corticobasal syndrome: A rare form of Lewy body disease. Neurology. 2018 Jul 17; 91 (3):e268-e279 Epub 2018 June 13
View PubMed
Sanchez-Contreras MY, Kouri N, Cook CN, Serie DJ, Heckman MG, Finch NA, Caselli RJ, Uitti RJ, Wszolek ZK, Graff-Radford N, Petrucelli L, Wang LS, Schellenberg GD, Dickson DW, Rademakers R, Ross OA. Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci. Mol Neurodegener. 2018 Jul 9; 13 (1):37 Epub 2018 July 09
View PubMed
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, Lopez de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sanchez-Valle R, Antonell A, Llado A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D, Graff C, Oijerstedt L, Troakes C, Al-Sarraj S, Cruchaga C, Cairns NJ, Rohrer JD, Halliday GM, Kwok JB, van Swieten JC, White CL 3rd, Ghetti B, Murell JR, Mackenzie IRA, Hsiung GR, Borroni B, Rossi G, Tagliavini F, Wszolek ZK, Petersen RC, Bigio EH, Grossman M, Van Deerlin VM, Seeley WW, Miller BL, Graff-Radford NR, Boeve BF, Dickson DW, Biernacka JM, Rademakers R. Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study. Lancet Neurol. 2018 Jun; 17 (6):548-558 Epub 2018 Apr 30
View PubMed
Konno T, Miura T, Harriott AM, Mezaki N, Edwards ES, Rademakers R, Ross OA, Meschia JF, Ikeuchi T, Wszolek ZK. Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities. Eur J Neurol. 2018 Jun; 25 (6):875-881 Epub 2018 Apr 03
View PubMed
Tian J, Vemula SR, Xiao J, Valente EM, Defazio G, Petrucci S, Gigante AF, Rudzinska-Bar M, Wszolek ZK, Kennelly KD, Uitti RJ, van Gerpen JA, Hedera P, Trimble EJ, LeDoux MS. Whole-exome sequencing for variant discovery in blepharospasm. Mol Genet Genomic Med. 2018 May 16; 6 (4):601-26 [Epub ahead of print]
View PubMed
Konno T, Blackburn PR, Rozen TD, van Gerpen JA, Ross OA, Atwal PS, Wszolek ZK. Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant. Neurol Neurochir Pol. 2018 May - Jun; 52 (3):386-389 Epub 2018 Apr 11
View PubMed
Mishima T, Fujioka S, Tomiyama H, Yabe I, Kurisaki R, Fujii N, Neshige R, Ross OA, Farrer MJ, Dickson DW, Wszolek ZK, Hattori N, Tsuboi Y. Establishing diagnostic criteria for Perry syndrome. J Neurol Neurosurg Psychiatry. 2018 May; 89 (5):482-487 Epub 2017 Oct 31
View PubMed
Kasanuki K, Ferman TJ, Murray ME, Heckman MG, Pedraza O, Hanna Al-Shaikh FS, Mishima T, Diehl NN, van Gerpen JA, Uitti RJ, Wszolek ZK, Graff-Radford NR, Dickson DW. Daytime sleepiness in dementia with Lewy bodies is associated with neuronal depletion of the nucleus basalis of Meynert. Parkinsonism Relat Disord. 2018 May; 50:99-103 Epub 2018 Feb 03
View PubMed
Liu SY, Wile DJ, Fu JF, Valerio J, Shahinfard E, McCormick S, Mabrouk R, Vafai N, McKenzie J, Neilson N, Perez-Soriano A, Arena JE, Cherkasova M, Chan P, Zhang J, Zabetian CP, Aasly JO, Wszolek ZK, McKeown MJ, Adam MJ, Ruth TJ, Schulzer M, Sossi V, Stoessl AJ. The effect of LRRK2 mutations on the cholinergic system in manifest and premanifest stages of Parkinson's disease: a cross-sectional PET study. Lancet Neurol. 2018 Apr; 17 (4):309-316 Epub 2018 Feb 16
View PubMed
Ogaki K, Martens YA, Heckman MG, Koga S, Labbe C, Lorenzo-Betancor O, Wernick AI, Walton RL, Soto AI, Vargas ER, Nielsen HM, Fujioka S, Kanekiyo T, Uitti RJ, van Gerpen JA, Cheshire WP, Wszolek ZK, Low PA, Singer W, Dickson DW, Bu G, Ross OA. Multiple system atrophy and apolipoprotein E. Mov Disord. 2018 Apr; 33 (4):647-650 Epub 2018 Feb 14
View PubMed
Konno T, Deutschlander A, Heckman MG, Ossi M, Vargas ER, Strongosky AJ, van Gerpen JA, Uitti RJ, Ross OA, Wszolek ZK. Comparison of clinical features among Parkinson's disease subtypes: A large retrospective study in a single center. J Neurol Sci. 2018 Mar 15; 386:39-45 Epub 2018 Jan 11
View PubMed
Jones DT, Knopman DS, Graff-Radford J, Syrjanen JA, Senjem ML, Schwarz CG, Dheel C, Wszolek Z, Rademakers R, Kantarci K, Petersen RC, Jack CR Jr, Lowe VJ, Boeve BF. In vivo (18)F-AV-1451 tau PET signal in MAPT mutation carriers varies by expected tau isoforms. Neurology. 2018 Mar 13; 90 (11):e947-e954 Epub 2018 Feb 09
View PubMed
Ferman TJ, Aoki N, Crook JE, Murray ME, Graff-Radford NR, van Gerpen JA, Uitti RJ, Wszolek ZK, Graff-Radford J, Pedraza O, Kantarci K, Boeve BF, Dickson DW. The limbic and neocortical contribution of alpha-synuclein, tau, and amyloid beta to disease duration in dementia with Lewy bodies. Alzheimers Dement. 2018 Mar; 14 (3):330-339 Epub 2017 Oct 31
View PubMed
Tsai PI, Lin CH, Hsieh CH, Papakyrikos AM, Kim MJ, Napolioni V, Schoor C, Couthouis J, Wu RM, Wszolek ZK, Winter D, Greicius MD, Ross OA, Wang X. PINK1 Phosphorylates MIC60/Mitofilin to Control Structural Plasticity of Mitochondrial Crista Junctions. Mol Cell. 2018 Mar 1; 69 (5):744-756.e6 Epub 2018 Feb 15
View PubMed
Ygland E, van Westen D, Englund E, Rademakers R, Wszolek ZK, Nilsson K, Nilsson C, Landqvist Waldo M, Alafuzoff I, Hansson O, Gustafson L, Puschmann A. Slowly progressive dementia caused by MAPT R406W mutations: longitudinal report on a new kindred and systematic review. Alzheimers Res Ther. 2018 Jan 9; 10 (1):2 Epub 2018 Jan 09
View PubMed
Hou X, Fiesel FC, Truban D, Castanedes Casey M, Lin WL, Soto AI, Tacik P, Rousseau LG, Diehl NN, Heckman MG, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Steele JC, Farrer MJ, Cornejo-Olivas M, Torres L, Mata IF, Graff-Radford NR, Wszolek ZK, Ross OA, Murray ME, Dickson DW, Springer W. Age- and disease-dependent increase of the mitophagy marker phospho-ubiquitin in normal aging and Lewy body disease. Autophagy. 2018; 14 (8):1404-1418 Epub 2018 July 28
View PubMed
Konno T, Yoshida K, Mizuta I, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Onodera O, Wszolek ZK, Ikeuchi T. Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. Eur J Neurol. 2018 Jan; 25 (1):142-147 Epub 2017 Oct 19
View PubMed
Deutschlander AB, Deutschlander AB, Ross OA, Dickson DW, Wszolek ZK. Atypical parkinsonian syndromes: a general neurologist's perspective. Eur J Neurol. 2018 Jan; 25 (1):41-58 Epub 2017 Sept 28
View PubMed
Wszolek Z. Clinical genetics of tauopathies Pol Przeglad Neurologiczny. 2018; 14(Supplement A):7.
Wszolek Z. The etiology of Parkinson disease is predominantly genetic Pro. Pol Przeglad Neurologiczny. 2018; 14 (Supplement A):7.
Tipton PW, Wszolek ZK. Restless legs syndrome and nocturnal leg cramps: a review and guide to diagnosis and treatment. Pol Arch Intern Med. 2017 Dec 22; 127 (12):865-872 Epub 2017 Nov 09
View PubMed
Valdez C, Wong YC, Schwake M, Bu G, Wszolek ZK, Krainc D. Progranulin-mediated deficiency of cathepsin D results in FTD and NCL-like phenotypes in neurons derived from FTD patients. Hum Mol Genet. 2017 Dec 15; 26 (24):4861-4872
View PubMed
Koga S, Parks A, Kasanuki K, Sanchez-Contreras M, Baker MC, Josephs KA, Ahlskog JE, Uitti RJ, Graff-Radford N, van Gerpen JA, Wszolek ZK, Rademakers R, Dickson DW. Cognitive impairment in progressive supranuclear palsy is associated with tau burden. Mov Disord. 2017 Dec; 32 (12):1772-1779 Epub 2017 Oct 30
View PubMed
Sanchez-Contreras M, Soto AI, Walton RL, Wszolek ZK, Dickson DW, Ross OA, Rademakers R. DCTN1 variation in pathologically-confirmed PSP and CBD tauopathy. Parkinsonism Relat Disord 2017 Nov; 44:151-153 Epub 2017 Aug 30
View PubMed
Schormair B, Zhao C, Bell S, Tilch E, Salminen AV, Putz B, Dauvilliers Y, Stefani A, Hogl B, Poewe W, Kemlink D, Sonka K, Bachmann CG, Paulus W, Trenkwalder C, Oertel WH, Hornyak M, Teder-Laving M, Metspalu A, Hadjigeorgiou GM, Polo O, Fietze I, Ross OA, Wszolek Z, Butterworth AS, Soranzo N, Ouwehand WH, Roberts DJ, Danesh J, Allen RP, Earley CJ, Ondo WG, Xiong L, Montplaisir J, Gan-Or Z, Perola M, Vodicka P, Dina C, Franke A, Tittmann L, Stewart AFR, Shah SH, Gieger C, Peters A, Rouleau GA, Berger K, Oexle K, Di Angelantonio E, Hinds DA, Muller-Myhsok B, Winkelmann J, 23andMe Research Team//DESIR study group. Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. Lancet Neurol. 2017 Nov; 16 (11):898-907
View PubMed
Tacik P, DeTure MA, Carlomagno Y, Lin WL, Murray ME, Baker MC, Josephs KA, Boeve BF, Wszolek ZK, Graff-Radford NR, Parisi JE, Petrucelli L, Rademakers R, Isaacson RS, Heilman KM, Petersen RC, Dickson DW, Kouri N. FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G. Brain Pathol. 2017 Sep; 27 (5):612-626 Epub 2016 Oct 05
View PubMed
Mishima T, Kasanuki K, Koga S, Castanedes-Casey M, Wszolek ZK, Tsuboi Y, Dickson DW. Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy. Parkinsonism Relat Disord. 2017 Sep; 42:85-89 Epub 2017 June 12
View PubMed
Mackenzie IR, Nicholson AM, Sarkar M, Messing J, Purice MD, Pottier C, Annu K, Baker M, Perkerson RB, Kurti A, Matchett BJ, Mittag T, Temirov J, Hsiung GR, Krieger C, Murray ME, Kato M, Fryer JD, Petrucelli L, Zinman L, Weintraub S, Mesulam M, Keith J, Zivkovic SA, Hirsch-Reinshagen V, Roos RP, Zuchner S, Graff-Radford NR, Petersen RC, Caselli RJ, Wszolek ZK, Finger E, Lippa C, Lacomis D, Stewart H, Dickson DW, Kim HJ, Rogaeva E, Bigio E, Boylan KB, Taylor JP, Rademakers R. TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Neuron. 2017 Aug 16; 95 (4):808-816.e9
View PubMed
Konno T, Ross OA, Teive HAG, Slawek J, Dickson DW, Wszolek ZK. DCTN1-related neurodegeneration: Perry syndrome and beyond. Parkinsonism Relat Disord. 2017 Aug; 41:14-24 Epub 2017 June 12
View PubMed
Mishima T, Koga S, Lin WL, Kasanuki K, Castanedes-Casey M, Wszolek ZK, Oh SJ, Tsuboi Y, Dickson DW. Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy. J Neuropathol Exp Neurol. 2017 Aug 1; 76 (8):676-682
View PubMed
Zhao J, Davis MD, Martens YA, Shinohara M, Graff-Radford NR, Younkin SG, Wszolek ZK, Kanekiyo T, Bu G. APOE epsilon4/epsilon4 diminishes neurotrophic function of human iPSC-derived astrocytes. Hum Mol Genet. 2017 Jul 15; 26 (14):2690-2700
View PubMed
Perez-Soriano A, Arena JE, Dinelle K, Miao Q, McKenzie J, Neilson N, Puschmann A, Schaffer P, Shinotoh H, Smith-Forrester J, Shahinfard E, Vafai N, Wile D, Wszolek Z, Higuchi M, Sossi V, Stoessl AJ. PBB3 imaging in Parkinsonian disorders: Evidence for binding to tau and other proteins. Mov Disord. 2017 Jul; 32 (7):1016-1024 Epub 2017 June 01
View PubMed
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilarino-Guell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder. Brain 2017 Jun 1; 140 (6):e33
View PubMed
Wile DJ, Agarwal PA, Schulzer M, Mak E, Dinelle K, Shahinfard E, Vafai N, Hasegawa K, Zhang J, McKenzie J, Neilson N, Strongosky A, Uitti RJ, Guttman M, Zabetian CP, Ding YS, Adam M, Aasly J, Wszolek ZK, Farrer M, Sossi V, Stoessl AJ. Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies. Lancet Neurol. 2017 May; 16 (5):351-359 Epub 2017 Mar 20
View PubMed
Ando M, Fiesel FC, Hudec R, Caulfield TR, Ogaki K, Gorka-Skoczylas P, Koziorowski D, Friedman A, Chen L, Dawson VL, Dawson TM, Bu G, Ross OA, Wszolek ZK, Springer W. The PINK1 p.I368N mutation affects protein stability and ubiquitin kinase activity. Mol Neurodegener. 2017 Apr 24; 12 (1):32
View PubMed
Tacik P, Sanchez-Contreras M, DeTure M, Murray ME, Rademakers R, Ross OA, Wszolek ZK, Parisi JE, Knopman DS, Petersen RC, Dickson DW. Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy. Neuropathol Appl Neurobiol. 2017 Apr; 43 (3):200-214 Epub 2017 Mar 08
View PubMed
Fujioka S, Curry SE, Kennelly KD, Tacik P, Heckman MG, Tsuboi Y, Strongosky AJ, van Gerpen JA, Uitti RJ, Ross OA, Ikezu T, Wszolek ZK. Occurrence of Crohn's disease with Parkinson's disease. Parkinsonism Relat Disord 2017 Apr; 37:116-117 Epub 2017 Feb 10
View PubMed
Koga S, Parks A, Uitti RJ, van Gerpen JA, Cheshire WP, Wszolek ZK, Dickson DW. Profile of cognitive impairment and underlying pathology in multiple system atrophy. Mov Disord. 2017 Mar; 32 (3):405-413 Epub 2016 Nov 15
View PubMed
Koga S, Sanchez-Contreras M, Josephs KA, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Wszolek ZK, Rademakers R, Dickson DW. Distribution and characteristics of transactive response DNA binding protein 43 kDa pathology in progressive supranuclear palsy. Mov Disord. 2017 Feb; 32 (2):246-255 Epub 2016 Dec 23
View PubMed
Sitek EJ, Narozanska E, Konieczna S, Brockhuis B, Wieczorek D, Wszolek ZK, Slawek J. Drawing analysis in the assessment of patients with neurodegenerative diseases. Neurology. 2017 Jan 10; 88 (2):218-219
View PubMed
Konno T, Yoshida K, Mizuno T, Kawarai T, Tada M, Nozaki H, Ikeda SI, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T. Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol. 2017 Jan; 24 (1):37-45 Epub 2016 Sept 29
View PubMed
Puschmann A, Fiesel FC, Caulfield TR, Hudec R, Ando M, Truban D, Hou X, Ogaki K, Heckman MG, James ED, Swanberg M, Jimenez-Ferrer I, Hansson O, Opala G, Siuda J, Boczarska-Jedynak M, Friedman A, Koziorowski D, Rudzinska-Bar M, Aasly JO, Lynch T, Mellick GD, Mohan M, Silburn PA, Sanotsky Y, Vilarino-Guell C, Farrer MJ, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Springer W. Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism. Brain. 2017 Jan; 140 (1):98-117 Epub 2016 Nov 02
View PubMed
Wang L, Heckman MG, Aasly JO, Annesi G, Bozi M, Chung SJ, Clarke C, Crosiers D, Eckstein G, Garraux G, Hadjigeorgiou GM, Hattori N, Jeon B, Kim YJ, Kubo M, Lesage S, Lin JJ, Lynch T, Lichtner P, Mellick GD, Mok V, Morrison KE, Quattrone A, Satake W, Silburn PA, Stefanis L, Stockton JD, Tan EK, Toda T, Brice A, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Gasser T, Kruger R, Farrer MJ, Ross OA, Sharma M, GEOPD Consortium. Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study. Neurobiol Aging. 2017 Jan; 49:217.e1-217.e4 Epub 2016 Oct 06
View PubMed
Konno T, Broderick DF, Mezaki N, Isami A, Kaneda D, Tashiro Y, Tokutake T, Keegan BM, Woodruff BK, Miura T, Nozaki H, Nishizawa M, Onodera O, Wszolek ZK, Ikeuchi T. Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. AJNR Am J Neuroradiol. 2017 Jan; 38 (1):77-83 Epub 2016 Sept 15
View PubMed
Sanchez-Contreras M, Heckman MG, Tacik P, Diehl N, Brown PH, Soto-Ortolaza AI, Christopher EA, Walton RL, Ross OA, Golbe LI, Graff-Radford N, Wszolek ZK, Dickson DW, Rademakers R. Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration. Mov Disord. 2017 Jan; 32 (1):115-123 Epub 2016 Oct 06
View PubMed
Tipton PW, Guthrie K, Strongosky A, Reimer R, Wszolek ZK. Spinocerebellar ataxia 15: A phenotypic review and expansion. Neurol Neurochir Pol. 2017 Jan - Feb; 51 (1):86-91 Epub 2016 Nov 10
View PubMed
Muller SH, Girard SL, Hopfner F, Merner ND, Bourassa CV, Lorenz D, Clark LN, Tittmann L, Soto-Ortolaza AI, Klebe S, Hallett M, Schneider SA, Hodgkinson CA, Lieb W, Wszolek ZK, Pendziwiat M, Lorenzo-Betancor O, Poewe W, Ortega-Cubero S, Seppi K, Rajput A, Hussl A, Rajput AH, Berg D, Dion PA, Wurster I, Shulman JM, Srulijes K, Haubenberger D, Pastor P, Vilarino-Guell C, Postuma RB, Bernard G, Ladwig KH, Dupre N, Jankovic J, Strauch K, Panisset M, Winkelmann J, Testa CM, Reischl E, Zeuner KE, Ross OA, Arzberger T, Chouinard S, Deuschl G, Louis ED, Kuhlenbaumer G, Rouleau GA. Genome-wide association study in essential tremor identifies three new loci. Brain. 2016 Dec; 139 (Pt 12):3163-3169 Epub 2016 Oct 20
View PubMed
Grutz K, Volpato CB, Domingo A, Alvarez-Fischer D, Gebert U, Schifferle G, Buffone E, Wszolek ZK, Rademakers R, Ferbert A, Hicks AA, Klein C, Pramstaller PP, Westenberger A. Primary familial brain calcification in the 'IBGC2' kindred: All linkage roads lead to SLC20A2. Mov Disord. 2016 Dec; 31 (12):1901-1904 Epub 2016 Sept 27
View PubMed
Labbe C, Heckman MG, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Murray ME, Allen M, Uitti RJ, Wszolek ZK, Smith GE, Kantarci K, Knopman DS, Lowe VJ, Jack CR Jr, Ertekin-Taner N, Hassan A, Savica R, Petersen RC, Parisi JE, Maraganore DM, Graff-Radford NR, Ferman TJ, Boeve BF, Dickson DW, Ross OA. MAPT haplotype H1G is associated with increased risk of dementia with Lewy bodies. Alzheimers Dement. 2016 Dec; 12 (12):1297-1304 Epub 2016 June 07
View PubMed
Tipton PW, Konno T, Broderick DF, Dickson DW, Wszolek ZK. Cerebral peduncle angle: Unreliable in differentiating progressive supranuclear palsy from other neurodegenerative diseases. Parkinsonism Relat Disord. 2016 Nov; 32:31-35 Epub 2016 Aug 11
View PubMed
Davis MY, Johnson CO, Leverenz JB, Weintraub D, Trojanowski JQ, Chen-Plotkin A, Van Deerlin VM, Quinn JF, Chung KA, Peterson-Hiller AL, Rosenthal LS, Dawson TM, Albert MS, Goldman JG, Stebbins GT, Bernard B, Wszolek ZK, Ross OA, Dickson DW, Eidelberg D, Mattis PJ, Niethammer M, Yearout D, Hu SC, Cholerton BA, Smith M, Mata IF, Montine TJ, Edwards KL, Zabetian CP. Association of GBA Mutations and the E326K Polymorphism With Motor and Cognitive Progression in Parkinson Disease. JAMA Neurol. 2016 Oct 1; 73 (10):1217-1224
View PubMed
Tacik P, Curry S, Fujioka S, Strongosky A, Uitti RJ, van Gerpen JA, Diehl NN, Heckman MG, Wszolek ZK. Cancer in Parkinson's disease. Parkinsonism Relat Disord. 2016 Oct; 31:28-33 Epub 2016 June 20
View PubMed
Heckman MG, Soto-Ortolaza AI, Contreras MYS, Sanchez Contreras MY, Murray ME, Pedraza O, Diehl NN, Walton R, Labbe C, Lorenzo-Betancor O, Uitti RJ, van Gerpen J, Ertekin-Taner N, Smith GE, Kantarci K, Savica R, Jones DT, Graff-Radford J, Knopman DS, Lowe VJ, Jack CR Jr, Petersen RC, Parisi JE, Rademakers R, Wszolek ZK, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA. LRRK2 variation and dementia with Lewy bodies. Parkinsonism Relat Disord. 2016 Oct; 31:98-103 Epub 2016 July 29
View PubMed
Siegel J, Freeman WD, Broderick DF, Robles H, Thiel DD, Wszolek ZK. Ostry pooperacyjny zespól kr?gowo-podstawny – znaczenia lokalizacji klinicznej (Polish) [Postoperative acute vertebrobasilar syndrome – the importance of clinical localization]. Medycyna Praktyczna Neurologia 2016.2016;()3:61-66.
Hill-Burns EM, Ross OA, Wissemann WT, Soto-Ortolaza AI, Zareparsi S, Siuda J, Lynch T, Wszolek ZK, Silburn PA, Mellick GD, Ritz B, Scherzer CR, Zabetian CP, Factor SA, Breheny PJ, Payami H. Identification of genetic modifiers of age-at-onset for familial Parkinson's disease. Hum Mol Genet. 2016 Sep 1; 25 (17):3849-3862 Epub 2016 July 11
View PubMed
Hodges K, Brewer SS, Labbe C, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, van Gerpen JA, Ertekin-Taner N, Kantarci K, Lowe VJ, Parisi JE, Savica R, Graff-Radford J, Jones DT, Knopman DS, Petersen RC, Murray ME, Graff-Radford NR, Ferman TJ, Dickson DW, Wszolek ZK, Boeve BF, Ross OA, Lorenzo-Betancor O. RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies. Neurobiol Aging. 2016 Sep; 45:107-108 Epub 2016 Mar 24
View PubMed
Labbe C, Heckman MG, Lorenzo-Betancor O, Murray ME, Ogaki K, Soto-Ortolaza AI, Walton RL, Fujioka S, Koga S, Uitti RJ, van Gerpen JA, Petersen RC, Graff-Radford NR, Younkin SG, Boeve BF, Cheshire WP Jr, Low PA, Sandroni P, Coon EA, Singer W, Wszolek ZK, Dickson DW, Ross OA. MAPT haplotype diversity in multiple system atrophy. Parkinsonism Relat Disord. 2016 Sep; 30:40-5 Epub 2016 June 16
View PubMed
Dulski J, Soltan W, Schinwelski M, Rudzinska M, Wojcik-Pedziwiatr M, Wictor L, Schon F, Puschmann A, Klempir J, Tilley L, Roth J, Tacik P, Fujioka S, Drozdowski W, Sitek EJ, Wszolek Z, Slawek J. Clinical variability of neuroacanthocytosis syndromes-a series of six patients with long follow-up. Clin Neurol Neurosurg. 2016 Aug; 147:78-83 Epub 2016 June 01
View PubMed
Walton RL, Soto-Ortolaza AI, Murray ME, Lorenzo-Betancor O, Ogaki K, Heckman MG, Rayaprolu S, Rademakers R, Ertekin-Taner N, Uitti RJ, van Gerpen JA, Wszolek ZK, Smith GE, Kantarci K, Lowe VJ, Parisi JE, Jones DT, Savica R, Graff-Radford J, Knopman DS, Petersen RC, Graff-Radford NR, Ferman TJ, Dickson DW, Boeve BF, Ross OA, Labbe C. TREM2 p.R47H substitution is not associated with dementia with Lewy bodies. Neurol Genet. 2016 Aug; 2 (4):e85 Epub 2016 July 14
View PubMed
Konno T, Broderick DF, Tacik P, Caviness JN, Wszolek ZK. Hypertrophic olivary degeneration: A clinico-radiologic study. Parkinsonism Relat Disord. 2016 Jul; 28:36-40 Epub 2016 Apr 12
View PubMed
Fujioka S, Algom AA, Murray ME, Sanchez-Contreras MY, Tacik P, Tsuboi Y, Van Gerpen JA, Uitti RJ, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Tremor in progressive supranuclear palsy. Parkinsonism Relat Disord. 2016 Jun; 27:93-7 Epub 2016 Mar 22
View PubMed
Koga S, Josephs KA, Ogaki K, Labbe C, Uitti RJ, Graff-Radford N, van Gerpen JA, Cheshire WP, Aoki N, Rademakers R, Wszolek ZK, Ross OA, Dickson DW. Cerebellar ataxia in progressive supranuclear palsy: An autopsy study of PSP-C. Mov Disord. 2016 May; 31 (5):653-62 Epub 2016 Feb 03
View PubMed
Lorenzo-Betancor O, Wszolek ZK, Ross OA. Rare variants in MC1R/TUBB3 exon 1 are not associated with Parkinson's disease. Ann Neurol 2016 Feb; 79 (2):331 Epub 2016 Jan 19
View PubMed
Markopoulou K, Chase BA, Robowski P, Strongosky A, Narozanska E, Sitek EJ, Berdynski M, Barcikowska M, Baker MC, Rademakers R, Slawek J, Klein C, Huckelheim K, Kasten M, Wszolek ZK. Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction. PLoS One. 2016; 11 (11):e0165112 Epub 2016 Nov 17
View PubMed
Konno T, Ross OA, Wharen RE, Uitti RJ, Wszolek ZK. Deep brain stimulation for levodopa-refractory benign tremulous parkinsonism. Neurol Neurochir Pol. 2016; 50 (5):383-6 Epub 2016 June 24
View PubMed
Konno T, Siuda J, Wszolek ZK. Genetics of Parkinson's disease: a review of SNCA and LRRK2. Wiad Lek. 2016; 69: (3 Pt 1)328-32.
View PubMed
Tacik P, Sanchez-Contreras M, Rademakers R, Dickson DW, Wszolek ZK. Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories. Neurodegener Dis. 2016; 16 (1-2):12-21 Epub 2015 Nov 10
View PubMed
Hassan A, Heckman MG, Ahlskog JE, Wszolek ZK, Serie DJ, Uitti RJ, van Gerpen JA, Okun MS, Rayaprolu S, Ross OA. Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms. Parkinsonism Relat Disord. 2016 Jan; 22:102-5 Epub 2015 Nov 25
View PubMed
Konno T, Ross OA, Puschmann A, Dickson DW, Wszolek ZK. Autosomal dominant Parkinson's disease caused by SNCA duplications. Parkinsonism Relat Disord. 2016 Jan; 22 Suppl 1:S1-6 Epub 2015 Sept 03
View PubMed
Cordes M, Wszolek Z, Bruck W, Zimny A, Sasiadek M, Kuwert T. Neurodegeneration with dementia: From fundamentals of pathology to clinical imaging by MRI and SPECT Current Medical Imaging Reviews. 2016; 12: (4)257-68.
Ogaki K, Koga S, Heckman MG, Fiesel FC, Ando M, Labbe C, Lorenzo-Betancor O, Moussaud-Lamodiere EL, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Puschmann A, Nishioka K, Funayama M, Hattori N, Parisi JE, Petersen RC, Graff-Radford NR, Boeve BF, Springer W, Wszolek ZK, Dickson DW, Ross OA. Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders. Neurology. 2015 Dec 8; 85 (23):2016-25 Epub 2015 Nov 11
View PubMed
Bieniek KF, Ross OA, Cormier KA, Walton RL, Soto-Ortolaza A, Johnston AE, DeSaro P, Boylan KB, Graff-Radford NR, Wszolek ZK, Rademakers R, Boeve BF, McKee AC, Dickson DW. Chronic traumatic encephalopathy pathology in a neurodegenerative disorders brain bank. Acta Neuropathol. 2015 Dec; 130 (6):877-89 Epub 2015 Oct 30
View PubMed
Labbe C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorova I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA. Role for the microtubule-associated protein tau variant p.A152T in risk of alpha-synucleinopathies. Neurology. 2015 Nov 10; 85 (19):1680-6 Epub 2015 Sept 02
View PubMed
Labbe C, Ogaki K, Lorenzo-Betancor O, Soto-Ortolaza AI, Walton RL, Rayaprolu S, Fujioka S, Murray ME, Heckman MG, Puschmann A, McCarthy A, Lynch T, Siuda J, Opala G, Rudzinska M, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Sanotsky Y, Rektorova I, McLean PJ, Rademakers R, Ertekin-Taner N, Hassan A, Ahlskog JE, Boeve BF, Petersen RC, Maraganore DM, Adler CH, Ferman TJ, Parisi JE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Dickson DW, Ross OA. "Role for the microtubule-associated protein tau variant p.A152T in risk of alpha-synucleinopathies": Correction Neurology. 2015 Nov; 85: (19)1728.
Tacik P, DeTure M, Hinkle KM, Lin WL, Sanchez-Contreras M, Carlomagno Y, Pedraza O, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease. J Neuropathol Exp Neurol. 2015 Nov; 74 (11):1042-52
View PubMed
Wren MC, Zhao J, Liu CC, Murray ME, Atagi Y, Davis MD, Fu Y, Okano HJ, Ogaki K, Strongosky AJ, Tacik P, Rademakers R, Ross OA, Dickson DW, Wszolek ZK, Kanekiyo T, Bu G. Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells. Mol Neurodegener. 2015 Sep 15; 10:46 Epub 2015 Sept 15
View PubMed
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ, van Gerpen JA, Uitti RJ, McLean PJ, Springer W, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, McCarthy A, Lynch T, Puschmann A, Rektorova I, Sanotsky Y, Vilarino-Guell C, Farrer MJ, Ferman TJ, Boeve BF, Petersen RC, Parisi JE, Graff-Radford NR, Dickson DW, Wszolek ZK, Ross OA. DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. Eur J Neurol. 2015 Sep; 22 (9):1323-5
View PubMed
Fiesel FC, Ando M, Hudec R, Hill AR, Castanedes-Casey M, Caulfield TR, Moussaud-Lamodiere EL, Stankowski JN, Bauer PO, Lorenzo-Betancor O, Ferrer I, Arbelo JM, Siuda J, Chen L, Dawson VL, Dawson TM, Wszolek ZK, Ross OA, Dickson DW, Springer W. (Patho-)physiological relevance of PINK1-dependent ubiquitin phosphorylation. EMBO Rep. 2015 Sep; 16 (9):1114-30 Epub 2015 July 10
View PubMed
Koga S, Aoki N, Uitti RJ, van Gerpen JA, Cheshire WP, Josephs KA, Wszolek ZK, Langston JW, Dickson DW. When DLB, PD, and PSP masquerade as MSA: an autopsy study of 134 patients. Neurology. 2015 Aug 4; 85 (5):404-12 Epub 2015 July 02
View PubMed
Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, Josephs KA, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. A novel tau mutation, p.K317N, causes globular glial tauopathy. Acta Neuropathol. 2015 Aug; 130 (2):199-214 Epub 2015 Apr 22
View PubMed
Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NCA, Yoon H, Kim J, Fujioka S, McLean CA, Ghetti B, Spina S, Cantwell LB, Farlow MR, Grafman J, Huey ED, Ryung Han M, Beecher S, Geller ET, Kretzschmar HA, Roeber S, Gearing M, Juncos JL, Vonsattel JPG, Van Deerlin VM, Grossman M, Hurtig HI, Gross RG, Arnold SE, Trojanowski JQ, Lee VM, Wenning GK, White CL, Hoglinger GU, Muller U, Devlin B, Golbe LI, Crook J, Parisi JE, Boeve BF, Josephs KA, Wszolek ZK, Uitti RJ, Graff-Radford NR, Litvan I, Younkin SG, Wang LS, Ertekin-Taner N, Rademakers R, Hakonarsen H, Schellenberg GD, Dickson DW. Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. Nat Commun. 2015 Jun 16; 6:7247 Epub 2015 June 16
View PubMed
Rajput A, Ross JP, Bernales CQ, Rayaprolu S, Soto-Ortolaza AI, Ross OA, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput AH, Vilarino-Guell C. VPS35 and DNAJC13 disease-causing variants in essential tremor. Eur J Hum Genet. 2015 Jun; 23 (6):887-8 Epub 2014 Aug 13
View PubMed
Whitwell JL, Boeve BF, Weigand SD, Senjem ML, Gunter JL, Baker MC, DeJesus-Hernandez M, Knopman DS, Wszolek ZK, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study of 198 serial magnetic resonance images. Eur J Neurol. 2015 May; 22 (5):745-52 Epub 2015 Feb 12
View PubMed
Srivatsal S, Cholerton B, Leverenz JB, Wszolek ZK, Uitti RJ, Dickson DW, Weintraub D, Trojanowski JQ, Van Deerlin VM, Quinn JF, Chung KA, Peterson AL, Factor SA, Wood-Siverio C, Goldman JG, Stebbins GT, Bernard B, Ritz B, Rausch R, Espay AJ, Revilla FJ, Devoto J, Rosenthal LS, Dawson TM, Albert MS, Mata IF, Hu SC, Montine KS, Johnson C, Montine TJ, Edwards KL, Zhang J, Zabetian CP. Cognitive profile of lrrk2-related Parkinson's disease. Mov Disord. 2015 Apr 15; 30(5):728-33.
View PubMed
Beecham GW, Dickson DW, Scott WK, Martin ER, Schellenberg G, Nuytemans K, Larson EB, Buxbaum JD, Trojanowski JQ, Van Deerlin VM, Hurtig HI, Mash DC, Beach TG, Troncoso JC, Pletnikova O, Frosch MP, Ghetti B, Foroud TM, Honig LS, Marder K, Vonsattel JP, Goldman SM, Vinters HV, Ross OA, Wszolek ZK, Wang L, Dykxhoorn DM, Pericak-Vance MA, Montine TJ, Leverenz JB, Dawson TM, Vance JM. PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease. Neurology. 2015 Mar 10; 84 (10):972-80 Epub 2015 Feb 06
View PubMed
Tacik P, Guthrie KJ, Strongosky AJ, Broderick DF, Riegert-Johnson DL, Tang S, El-Khechen D, Parker AS, Ross OA, Wszolek ZK. Whole-exome sequencing as a diagnostic tool in a family with episodic ataxia type 1. Mayo Clin Proc. 2015 Mar; 90 (3):366-71 Epub 2015 Feb 03
View PubMed
Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Agundez JA, Jimenez-Jimenez FJ, Ross OA, Wurster I, Mielke C, Lin JJ, Coria F, Clarimon J, Ezquerra M, Brighina L, Annesi G, Alonso-Navarro H, Garcia-Martin E, Gironell A, Marti MJ, Yueh KC, Wszolek ZK, Sharma M, Sharma M, Berg D, Kruger R, Pastor MA, Pastor P. TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study. Parkinsonism Relat Disord. 2015 Mar; 21 (3):306-9 Epub 2014 Dec 24
View PubMed
Whitwell Jennifer L., Boeve Bradley F., Weigand Stephen D., Senjem Matthew L., Gunter Jeffrey L., Baker Matthew C., DeJesus-Hernandez Mariely, Knopman David S., Wszolek Zbigniew K., Petersen Ronald C., Rademakers Rosa, Jack Clifford R. , Jr Jr., Josephs Keith A.. Brain atrophy over time in genetic and sporadic frontotemporal dementia: a study on 198 serial MRI European journal of neurology?: the official journal of the European Federation of Neurological Societies.2015;745-752.
Fujioka S, Sanchez Contreras MY, Strongosky AJ, Ogaki K, Whaley NR, Tacik PM, van Gerpen JA, Uitti RJ, Ross OA, Wszolek ZK, Rademakers R, Dickson DW. Three sib-pairs of autopsy-confirmed progressive supranuclear palsy. Parkinsonism Relat Disord. 2015 Feb; 21 (2):101-5 Epub 2014 Nov 15
View PubMed
Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A, Myhr KM, Haugarvoll K, Zetterberg H, Harbo H, Kockum I, Hillert J, Wszolek Z, Rademakers R, Andersen O. Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. Eur J Neurol. 2015 Feb; 22 (2):328-333 Epub 2014 Oct 13
View PubMed
Labbe C, Ogaki K, Lorenzo-Betancor O, Carrasquillo MM, Heckman MG, McCarthy A, Soto-Ortolaza AI, Walton RL, Lynch T, Siuda J, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Dickson DW, Uitti RJ, Wszolek ZK, Ross OA. Exonic Re-Sequencing of the Chromosome 2q24.3 Parkinson's Disease Locus. PLoS One. 2015; 10 (6):e0128586 Epub 2015 June 19
View PubMed
Kalia LV, Lang AE, Hazrati LN, Fujioka S, Wszolek ZK, Dickson DW, Ross OA, Van Deerlin VM, Trojanowski JQ, Hurtig HI, Alcalay RN, Marder KS, Clark LN, Gaig C, Tolosa E, Ruiz-Martinez J, Marti-Masso JF, Ferrer I, Lopez de Munain A, Goldman SM, Schule B, Langston JW, Aasly JO, Giordana MT, Bonifati V, Puschmann A, Canesi M, Pezzoli G, Maues De Paula A, Hasegawa K, Duyckaerts C, Brice A, Stoessl AJ, Marras C. Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease. JAMA Neurol. 2015 Jan; 72 (1):100-5
View PubMed
Heckman MG, Schottlaender L, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Ogaki K, Fujioka S, Murray ME, Cheshire WP, Uitti RJ, Wszolek ZK, Farrer MJ, Sailer A, Singleton AB, Chinnery PF, Keogh MJ, Gentleman SM, Holton JL, Aoife K, Mann DM, Al-Sarraj S, Troakes C, Dickson DW, Houlden H, Ross OA. LRRK2 exonic variants and risk of multiple system atrophy. Neurology. 2014 Dec 9; 83 (24):2256-61 Epub 2014 Nov 05
View PubMed
Sundal C, Wszolek Z. Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia. [Updated 2014 Dec 18] Adam MP, Ardinger HH, et al, editors GeneReviews® [Internet] Seattle (WA) University of Washington, Seattle 1993-2014 Available from: http://wwwncbinlmnihgov/books/NBK100239/. December 2014; I:agon RA.
Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbe C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA. Analysis of COQ2 gene in multiple system atrophy. Mol Neurodegener. 2014 Nov 5; 9:44 Epub 2014 Nov 05
View PubMed
Siuda J, Jasinska-Myga B, Boczarska-Jedynak M, Opala G, Fiesel FC, Moussaud-Lamodiere EL, Scarffe LA, Dawson VL, Ross OA, Springer W, Dawson TM, Wszolek ZK. Early-onset Parkinson's disease due to PINK1 p.Q456X mutation--clinical and functional study. Parkinsonism Relat Disord. 2014 Nov; 20 (11):1274-8 Epub 2014 Sept 02
View PubMed
Theuns J, Verstraeten A, Sleegers K, Wauters E, Gijselinck I, Smolders S, Crosiers D, Corsmit E, Elinck E, Sharma M, Kruger R, Lesage S, Brice A, Chung SJ, Kim M, Kim YJ, Ross OA, Wszolek ZK, Rogaeva E, Xi Z, Lang AE, Klein C, Weissbach A, Mellick GD, Silburn PA, Hadjigeorgiou GM, Dardiotis E, Hattori N, Ogaki K, Tan E, Zhao Y, Aasly J, Valente EM, Petrucci S, Annesi G, Quattrone A, Ferrarese C, Brighina L, Deutschlander A, Puschmann A, Nilsson C, Garraux G, LeDoux MS, Pfeiffer RF, Boczarska-Jedynak M, Opala G, Maraganore DM, Engelborghs S, De Deyn PP, Cras P, Cruts M, Van Broeckhoven C. Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease. Neurology. 2014 Nov; 83(21):1906-13.
View PubMed
Fujioka S, Boeve BF, Parisi JE, Tacik P, Aoki N, Strongosky AJ, Baker M, Sanchez-Contreras M, Ross OA, Rademakers R, Sossi V, Dickson DW, Stoessl AJ, Wszolek ZK. A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study. Parkinsonism Relat Disord. 2014 Nov; 20 (11):1129-34 Epub 2014 Aug 19
View PubMed
van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers. Neurobiol Aging. 2014 Oct; 35 (10):2421.e13-7 Epub 2014 May 02
View PubMed
van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. Mol Neurodegener. 2014 Sep 20; 9:38 Epub 2014 Sept 20
View PubMed
Siuda J, Fujioka S, Wszolek ZK. Parkinsonian syndrome in familial frontotemporal dementia. Parkinsonism Relat Disord. 2014 Sep; 20 (9):957-64 Epub 2014 June 13
View PubMed
Sanchez-Contreras M, Baker MC, Finch NA, Nicholson A, Wojtas A, Wszolek ZK, Ross OA, Dickson DW, Rademakers R. Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology. Hum Mutat. 2014 Aug; 35 (8):964-71 Epub 2014 June 03
View PubMed
Tacik P, Fiesel FC, Fujioka S, Ross OA, Pretelt F, Castaneda Cardona C, Kidd A, Hlavac M, Raizis A, Okun MS, Traynor S, Strongosky AJ, Springer W, Wszolek ZK. Three families with Perry syndrome from distinct parts of the world. Parkinsonism Relat Disord. 2014 Aug; 20 (8):884-8 Epub 2014 May 13
View PubMed
Shannon B, Soto-Ortolaza A, Rayaprolu S, Cannon HD, Labbe C, Benitez BA, Choi J, Lynch T, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Van Gerpen JA, Uitti RJ, Springer W, Cruchaga C, Wszolek ZK, Ross OA. Genetic variation of the retromer subunits VPS26A/B-VPS29 in Parkinson's disease. Neurobiol Aging. 2014 Aug; 35 (8):1958.e1-2 Epub 2014 Mar 05
View PubMed
Angeles DC, Ho P, Chua LL, Wang C, Yap YW, Ng C, Zhou Zd, Lim KL, Wszolek ZK, Wang HY, Tan EK. Thiol peroxidases ameliorate LRRK2 mutant-induced mitochondrial and dopaminergic neuronal degeneration in Drosophila. Hum Mol Genet. 2014 Jun 15; 23 (12):3157-65 Epub 2014 Jan 23
View PubMed
Vemula SR, Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Hedera P, Truong DD, Blitzer A, Rudzinska M, Momcilovic D, Jinnah HA, Frei K, Pfeiffer RF, LeDoux MS. A rare sequence variant in intron 1 of THAP1 is associated with primary dystonia. Mol Genet Genomic Med. 2014 May; 2 (3):261-72 Epub 2014 Feb 11
View PubMed
Martin I, Kim JW, Lee BD, Kang HC, Xu JC, Jia H, Stankowski J, Kim MS, Zhong J, Kumar M, Andrabi SA, Xiong Y, Dickson DW, Wszolek ZK, Pandey A, Dawson TM, Dawson VL. Ribosomal protein s15 phosphorylation mediates LRRK2 neurodegeneration in Parkinson's disease. Cell. 2014 Apr 10; 157 (2):472-485
View PubMed
Vilarino-Guell C, Rajput A, Milnerwood AJ, Shah B, Szu-Tu C, Trinh J, Yu I, Encarnacion M, Munsie LN, Tapia L, Gustavsson EK, Chou P, Tatarnikov I, Evans DM, Pishotta FT, Volta M, Beccano-Kelly D, Thompson C, Lin MK, Sherman HE, Han HJ, Guenther BL, Wasserman WW, Bernard V, Ross CJ, Appel-Cresswell S, Stoessl AJ, Robinson CA, Dickson DW, Ross OA, Wszolek ZK, Aasly JO, Wu RM, Hentati F, Gibson RA, McPherson PS, Girard M, Rajput M, Rajput AH, Farrer MJ. Dnajc13 mutations in Parkinson disease. Hum Mol Genet. 2014 Apr 1; 23(7):1794-801.
View PubMed
Ross JP, Rayaprolu S, Bernales CQ, Soto-Ortolaza AI, van Gerpen J, Uitti RJ, Wszolek ZK, Rajput A, Rajput AH, Rajput ML, Ross OA, Vilarino-Guell C. SLC1A2 rs3794087 does not associate with essential tremor. Neurobiol Aging. 2014 Apr; 35 (4):935.e9-10 Epub 2013 Oct 16
View PubMed
Medway CW, Abdul-Hay S, Mims T, Ma L, Bisceglio G, Zou F, Pankratz S, Sando SB, Aasly JO, Barcikowska M, Siuda J, Wszolek ZK, Ross OA, Carrasquillo M, Dickson DW, Graff-Radford N, Petersen RC, Ertekin-Taner N, Morgan K, Bu G, Younkin SG. ApoE variant p.V236E is associated with markedly reduced risk of Alzheimer's disease. Mol Neurodegener. 2014 Mar 10; 9:11
View PubMed
Pretelt F, Castaneda Cardona C, Tacik P, Ross OA, Wszolek ZK. Latin America's first case of Perry syndrome and a new treatment option for respiratory insufficiency. J Neurol 2014 Mar; 261 (3):620-1 Epub 2014 Feb 06
View PubMed
Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R. SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia. Neurogenetics. 2014 Mar; 15 (1):23-30 Epub 2013 Oct 18
View PubMed
van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia. Acta Neuropathol. 2014 Mar; 127 (3):397-406 Epub 2014 Jan 03
View PubMed
Hillbom M, Saloheimo P, Fujioka S, Wszolek ZK, Juvela S, Leone MA. Diagnosis and management of Marchiafava-Bignami disease: a review of CT/MRI confirmed cases. J Neurol Neurosurg Psychiatry. 2014 Feb; 85(2):168-73. Epub 2013 Aug 26.
View PubMed
Kouri N, Carlomagno Y, Baker M, Liesinger AM, Caselli RJ, Wszolek ZK, Petrucelli L, Boeve BF, Parisi JE, Josephs KA, Uitti RJ, Ross OA, Graff-Radford NR, DeTure MA, Dickson DW, Rademakers R. Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration. Acta Neuropathol. 2014 Feb; 127 (2):271-82
View PubMed
Jones D, Weigand S, Przybelski S, Graff-Radford J, Senjem M, Gunter J, Whitwell J, Knopman D, Graff-Radford N, Josephs K, Wszolek Z, Vemuri P, Fields J, Machulda M, Ferman T, Lucas J, Lowe V, Gavrilova R, Kuntz K, DeJesus-Hernandez M, Baker M, Rademakers R, Petersen R, Kantarci K, Jack C, Boeve B. Longitudinal changes in brain MRI and neuropsychological measures in asymptomatic and symptomatic familial frontotemporal lobar degeneration with mutations in MAPT. Am J Neurodegener Dis. 2014; 3(Suppl 1):195.
Felicio AC, Dinelle K, Agarwal PA, Mckenzie J, Heffernan N, Road JD, Appel-Cresswell S, Wszolek ZK, Farrer MJ, Schulzer M, Sossi V, Stoessl AJ. In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers. Mov Disord. 2014; 29(9):1197-201.
View PubMed
Ferman TJ, Smith GE, Dickson DW, Graff-Radford NR, Lin SC, Wszolek Z, Van Gerpen JA, Uitti R, Knopman DS, Petersen RC, Parisi JE, Silber MH, Boeve BF. Abnormal daytime sleepiness in dementia with Lewy bodies compared to Alzheimer's disease using the Multiple Sleep Latency Test. Alzheimers Res Ther. 2014; 6 (9):76 Epub 2014 Dec 10
View PubMed
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza A, Labbe C, Vilarino-Guell C, Rajput A, Rajput AH, Pastor P, Ortega S, Lorenzo E, Strongosky AJ, van Gerpen JA, Uitti RJ, Wszolek ZK, Ross OA. Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor. PLoS One. 2014; 9 (11):e111989 Epub 2014 Nov 06
View PubMed
Chung SJ, Biernacka JM, Armasu SM, Anderson K, Frigerio R, Aasly JO, Annesi G, Bentivoglio AR, Brighina L, Chartier-Harlin MC, Goldwurm S, Hadjigeorgiou G, Jasinska-Myga B, Jeon BS, Kim YJ, Krüger R, Lesage S, Markopoulou K, Mellick G, Morrison KE, Puschmann A, Tan EK, Crosiers D, Theuns J, Van Broeckhoven C, Wirdefeldt K, Wszolek ZK, Elbaz A, Maraganore DM, Yahalom G, Orlev Y, Cohen OS, Kozlova E, Friedman E, Inzelberg R, Hassin-Baer S. Alpha-synuclein repeat variants and survival in Parkinson's disease. Mov Disord. 2014; 29(8):1053-7.
View PubMed
Siuda J, Lewicka T, Bujak M, Opala G, Golenia A, Slowik A, van Blitterswijk M, Baker M, Ertekin-Taner N, Wszolek ZK, Rademakers R. Als-ftd complex disorder due to c9orf72 gene mutation: description of first Polish family. Eur Neurol. 2014; 72(1-2):64-71.
View PubMed
Fujioka S, Van Gerpen JA, Uitti RJ, Dickson DW, Wszolek ZK. Familial progressive supranuclear palsy: a literature review. Neurodegener Dis. 2014; 13 (2-3):180-2 Epub 2013 Sept 24
View PubMed
Labbe C, Rayaprolu S, Soto-Ortolaza A, Ogaki K, Uitti RJ, Wszolek ZK, Ross OA. Investigating FUS variation in Parkinson's disease. Parkinsonism Relat Disord. 2014 Jan; 20 Suppl 1:S147-9
View PubMed
Fujioka S, Ogaki K, Tacik PM, Uitti RJ, Ross OA, Wszolek ZK. Update on novel familial forms of Parkinson's disease and multiple system atrophy. Parkinsonism Relat Disord. 2014 Jan; 20 Suppl 1:S29-34
View PubMed
Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destee A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging. 2014 Jan; 35 (1):266.e5-14 Epub 2013 Aug 17
View PubMed
Sitek EJ, Narozanska E, Barczak A, Jasinska-Myga B, Harciarek M, Chodakowska-Zebrowska M, Kubiak M, Wieczorek D, Konieczna S, Rademakers R, Baker M, Berdynski M, Brockhuis B, Barcikowska M, Zekanowski C, Heilman KM, Wszolek ZK, Slawek J. Agraphia in patients with frontotemporal dementia and parkinsonism linked to chromosome 17 with P301L MAPT mutation: dysexecutive, aphasic, apraxic or spatial phenomenon? Neurocase. 2014; 20(1):69-86. Epub 2012 Nov 05.
View PubMed
Ferman TJ, Smith GE, Kantarci K, Boeve BF, Pankratz VS, Dickson DW, Graff-Radford NR, Wszolek Z, Van Gerpen J, Uitti R, Pedraza O, Murray ME, Aakre J, Parisi J, Knopman DS, Petersen RC. Nonamnestic mild cognitive impairment progresses to dementia with Lewy bodies. Neurology. 2013 Dec 3; 81 (23):2032-8 Epub 2013 Nov 08
View PubMed
Hoffman-Zacharska D, Koziorowski D, Ross OA, Milewski M, Poznanski JA, Jurek M, Wszolek ZK, Soto-Ortolaza A, Awek JAS, Janik P, Jamrozik Z, Potulska-Chromik A, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Czyzewski K, Dickson DW, Bal J, Friedman A. Novel A18T and pA29S substitutions in alpha-synuclein may be associated with sporadic Parkinson's disease. Parkinsonism Relat Disord. 2013 Nov; 19 (11):1057-1060 Epub 2013 Aug 02
View PubMed
van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL 3rd, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R. C9ORF72 repeat expansions in cases with previously identified pathogenic mutations. Neurology. 2013 Oct 8; 81 (15):1332-41 Epub 2013 Sept 11
View PubMed
Heckman MG, Soto-Ortolaza AI, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Boczarska-Jedynak M, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Petrucci S, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, Van Broeckhoven C, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Hentati F, Farrer MJ, Ross OA, Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Population-specific frequencies for LRRK2 susceptibility variants in the Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Mov Disord. 2013 Oct; 28 (12):1740-4 Epub 2013 Aug 02
View PubMed
Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Tselis A, Swerdlow RH, Miller BB, Borjesson-Hanson A, Uitti RJ, Ross OA, Stoessl AJ, Rademakers R, Josephs KA, Dickson DW, Broderick D, Wszolek ZK. Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord. 2013 Oct; 19 (10):869-77 Epub 2013 June 17
View PubMed
van Blitterswijk M, Baker MC, Bieniek KF, Knopman DS, Josephs KA, Boeve B, Caselli R, Wszolek ZK, Petersen R, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R. Profilin-1 mutations are rare in patients with amyotrophic lateral sclerosis and frontotemporal dementia. Amyotroph Lateral Scler Frontotemporal Degener. 2013 Sep; 14 (5-6):463-9 Epub 2013 May 02
View PubMed
Labbe C, Soto-Ortolaza AI, Rayaprolu S, Harriott AM, Strongosky AJ, Uitti RJ, Van Gerpen JA, Wszolek ZK, Ross OA. Investigating the role of FUS exonic variants in essential tremor. Parkinsonism Relat Disord. 2013 Aug; 19 (8):755-7 Epub 2013 Apr 16
View PubMed
Boeve BF, Silber MH, Ferman TJ, Lin SC, Benarroch EE, Schmeichel AM, Ahlskog JE, Caselli RJ, Jacobson S, Sabbagh M, Adler C, Woodruff B, Beach TG, Iranzo A, Gelpi E, Santamaria J, Tolosa E, Singer C, Mash DC, Luca C, Arnulf I, Duyckaerts C, Schenck CH, Mahowald MW, Dauvilliers Y, Graff-Radford NR, Wszolek ZK, Parisi JE, Dugger B, Murray ME, Dickson DW. Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder. Sleep Med. 2013 Aug; 14 (8):754-62 Epub 2013 Mar 07
View PubMed
Rayaprolu S, Mullen B, Baker M, Lynch T, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Josephs KA, Knopman DS, White CL 3rd, Caselli R, Mackenzie IR, Miller BL, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Younkin SG, Petersen RC, Ertekin-Taner N, Uitti RJ, Meschia JF, Boylan KB, Boeve BF, Graff-Radford NR, Wszolek ZK, Dickson DW, Rademakers R, Ross OA. TREM2 in neurodegeneration: evidence for association of the p.R47H variant with frontotemporal dementia and Parkinson's disease. Mol Neurodegener. 2013 Jun 21; 8:19 Epub 2013 June 21
View PubMed
Vemula SR, Puschmann A, Xiao J, Zhao Y, Rudzinska M, Frei KP, Truong DD, Wszolek ZK, LeDoux MS. Role of Galpha(olf) in familial and sporadic adult-onset primary dystonia. Hum Mol Genet. 2013 Jun 15; 22(12):2510-9. Epub 2013 Feb 27.
View PubMed
Fujioka S, Algom AA, Murray ME, Strongosky A, Soto-Ortolaza AI, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Similarities between familial and sporadic autopsy-proven progressive supranuclear palsy. Neurology. 2013 May 28; 80 (22):2076-8 Epub 2013 May 01
View PubMed
Cannon A, Fujioka S, Rutherford NJ, Ferman TJ, Broderick DF, Boylan KB, Graff-Radford NR, Uitti RJ, Rademakers R, Wszolek ZK, Dickson DW. Clinicopathologic variability of the GRN A9D mutation, including amyotrophic lateral sclerosis. Neurology. 2013 May 7; 80 (19):1771-7 Epub 2013 Apr 17
View PubMed
Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, Nelson PT, Clark HB, Wszolek ZK, Dickson DW, Knopman DS, Rademakers R. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology. 2013 Mar 12; 80 (11):1033-40 Epub 2013 Feb 13
View PubMed
Rayaprolu S, Fujioka S, Traynor S, Soto-Ortolaza AI, Petrucelli L, Dickson DW, Rademakers R, Boylan KB, Graff-Radford NR, Uitti RJ, Wszolek ZK, Ross OA. TARDBP mutations in Parkinson's disease. Parkinsonism Relat Disord. 2013 Mar; 19 (3):312-5 Epub 2012 Dec 08
View PubMed
Fujioka S, Sundal C, Strongosky AJ, Castanedes MC, Rademakers R, Ross OA, Vilarino-Guell C, Farrer MJ, Wszolek ZK, Dickson DW. Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia. Acta Neuropathol. 2013 Mar; 125 (3):425-38 Epub 2012 Nov 04
View PubMed
Heckman MG, Soto-Ortolaza AI, Diehl NN, Rayaprolu S, Brott TG, Wszolek ZK, Meschia JF, Ross OA. Genetic variants associated with myocardial infarction in the PSMA6 gene and Chr9p21 are also associated with ischaemic stroke. Eur J Neurol. 2013 Feb; 20 (2):300-8 Epub 2012 Aug 06
View PubMed
Dejesus-Hernandez M, Rayaprolu S, Soto-Ortolaza AI, Rutherford NJ, Heckman MG, Traynor S, Strongosky A, Graff-Radford N, Van Gerpen J, Uitti RJ, Shih JJ, Lin SC, Wszolek ZK, Rademakers R, Ross OA. Analysis of the C9orf72 repeat in Parkinson's disease, essential tremor and restless legs syndrome. Parkinsonism Relat Disord. 2013 Feb; 19 (2):198-201 Epub 2012 Oct 18
View PubMed
Fujioka S, Sundal C, Wszolek ZK. Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis. 2013 Jan 18; 8:14
View PubMed
Soto-Ortolaza AI, Heckman MG, Labbe C, Serie DJ, Puschmann A, Rayaprolu S, Strongosky A, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Lynch T, Uitti RJ, Wszolek ZK, Ross OA. GWAS risk factors in Parkinsonâ€™s disease: LRRK2 coding variation and genetic interaction with PARK16 American Journal of Neurodegenerative Diseases. 2013; 2: (4)287-99.
Fujioka S, Wszolek ZK. FBXO7 (PARK15), EIF4G1 (PARK18). J Clinic Exp Med (IGAKU NO AYUMI). 2013; 247:1069-1074.
Ross OA, Soto-Ortolaza AI, Heckman MG, Verbeeck C, Serie DJ, Rayaprolu S, Rich SS, Nalls MA, Singleton A, Guerreiro R, Kinsella E, Wszolek ZK, Brott TG, Brown RD Jr, Worrall BB, Meschia JF. NOTCH3 variants and risk of ischemic stroke. PLoS One. 2013; 8 (9):e75035 Epub 2013 Sept 23
View PubMed
Wszolek ZK. Poszukiwania przyczyn choroby Parkinsona i zespołów zwyrodnieniowych mózgu. [Search for causes of Parkinson's disease and neurodegenerative syndromes] Wiad Lek. 2013; 66:131-132.
Lincoln S, Allen M, Cox CL, Walker LP, Malphrus K, Qiu Y, Nguyen T, Rowley C, Kouri N, Crook J, Pankratz VS, Younkin S, Younkin L, Carrasquillo M, Zou F, Abdul-Hay SO, Springer W, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Lewis JM, Dickson D, Graff-Radford NR, Petersen RC, Eckman E, Younkin SG, Ertekin-Taner N. LRRTM3 interacts with APP and BACE1 and has variants associating with late-onset Alzheimer's disease (LOAD). PLoS One. 2013; 8 (6):e64164 Epub 2013 June 04
View PubMed
Foroutan P, Murray ME, Fujioka S, Schweitzer KJ, Dickson DW, Wszolek ZK, Grant SC. Progressive supranuclear palsy: high-field-strength MR microscopy in the human substantia nigra and globus pallidus. Radiology. 2013 Jan; 266(1):280-8. Epub 2012 Nov 14.
View PubMed
Fujishiro H, Imamura AY, Lin WL, Uchikado H, Mark MH, Golbe LI, Markopoulou K, Wszolek ZK, Dickson DW. Diversity of pathological features other than Lewy bodies in familial Parkinson's disease due to SNCA mutations. Am J Neurodegener Dis. 2013; 2 (4):266-75 Epub 2013 Nov 29
View PubMed
Soto-Ortolaza AI, Heckman MG, Labbe C, Serie DJ, Puschmann A, Rayaprolu S, Strongosky A, Boczarska-Jedynak M, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Lynch T, Uitti RJ, Wszolek ZK, Ross OA. GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16. Am J Neurodegener Dis. 2013; 2 (4):287-99 Epub 2013 Nov 29
View PubMed
Rutherford NJ, Heckman MG, Dejesus-Hernandez M, Baker MC, Soto-Ortolaza AI, Rayaprolu S, Stewart H, Finger E, Volkening K, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Knopman DS, Kretzschmar HA, Neumann M, Caselli RJ, White CL 3rd, Mackenzie IR, Petersen RC, Strong MJ, Miller BL, Boeve BF, Uitti RJ, Boylan KB, Wszolek ZK, Graff-Radford NR, Dickson DW, Ross OA, Rademakers R. Length of normal alleles of C9ORF72 GGGGCC repeat do not influence disease phenotype. Neurobiol Aging. 2012 Dec; 33 (12):2950.e5-7 Epub 2012 July 26
View PubMed
Sharma M, Ioannidis JPA, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilarino-Guell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Kruger R. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet. 2012 Nov; 49(11):721-6.
View PubMed
Fujioka S, Rayaprolu S, Sundal C, Broderick DF, Langley WA, Shoffner J, Hyams LC, Rademakers R, Graff-Radford NR, Tatum W, Ross OA, Wszolek ZK. A novel de novo pathogenic mutation in the CACNA1A gene. Mov Disord 2012 Oct; 27 (12):1578-9 Epub 2012 Oct 04
View PubMed
Duker AP, Espay AJ, Wszolek ZK, Rademakers R, Dickson DW, Kelley BJ. Atypical motor and behavioral presentations of Alzheimer disease: a case-based approach. Neurologist. 2012 Sep; 18(5):266-72.
View PubMed
Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Van Broeckhoven C, Bertram L, Bozi M, Crosiers D, Clarke C, Facheris M, Farrer M, Garraux G, Gispert S, Auburger G, Vilarino-Guell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon B, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore D, Kruger R, GEO-PD Consortium. Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology. 2012 Aug 14; 79(7):659-67. Epub 2012 Jul 11.
View PubMed
Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J, Borjesson-Hanson A, Tselis A, Swerdlow RH, Miller BB, Fujioka S, Heckman MG, Uitti RJ, Josephs KA, Baker M, Andersen O, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology. 2012 Aug 7; 79 (6):566-74 Epub 2012 July 25
View PubMed
De Paula AM, Michel B, Dickson DW, Wszolek ZK, Pellissier JF. Sporadic diffuse leucoencephalopathy with axonal spheroids: report of a profuse and rapid cortical-spinal degeneration. Neurol Sci. 2012 Aug; 33(4):905-9. Epub 2011 Oct 18
View PubMed
Coppola G, Chinnathambi S, Lee JJ, Dombroski BA, Baker MC, Soto-Ortolaza AI, Lee SE, Klein E, Huang AY, Sears R, Lane JR, Karydas AM, Kenet RO, Biernat J, Wang LS, Cotman CW, Decarli CS, Levey AI, Ringman JM, Mendez MF, Chui HC, Le Ber I, Brice A, Lupton MK, Preza E, Lovestone S, Powell J, Graff-Radford N, Petersen RC, Boeve BF, Lippa CF, Bigio EH, Mackenzie I, Finger E, Kertesz A, Caselli RJ, Gearing M, Juncos JL, Ghetti B, Spina S, Bordelon YM, Tourtellotte WW, Frosch MP, Vonsattel JP, Zarow C, Beach TG, Albin RL, Lieberman AP, Lee VM, Trojanowski JQ, Van Deerlin VM, Bird TD, Galasko DR, Masliah E, White CL, Troncoso JC, Hannequin D, Boxer AL, Geschwind MD, Kumar S, Mandelkow EM, Wszolek ZK, Uitti RJ, Dickson DW, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Ross OA, Rademakers R, Schellenberg GD, Miller BL, Mandelkow E, Geschwind DH, Alzheimer's Disease Genetics Consortium. Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet. 2012 Aug 1; 21 (15):3500-12 Epub 2012 May 03
View PubMed
Rutherford NJ, DeJesus-Hernandez M, Baker MC, Kryston TB, Brown PE, Lomen-Hoerth C, Boylan K, Wszolek ZK, Rademakers R. C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository. Neurology. 2012 Jul 31; 79 (5):482-3 Epub 2012 July 18
View PubMed
Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, Carrillo-Reid L, Xie Z, Osborn T, Hargus G, Deleidi M, Lawson T, Bogetofte H, Perez-Torres E, Clark L, Moskowitz C, Mazzulli J, Chen L, Volpicelli-Daley L, Romero N, Jiang H, Uitti RJ, Huang Z, Opala G, Scarffe LA, Dawson VL, Klein C, Feng J, Ross OA, Trojanowski JQ, Lee VM, Marder K, Surmeier DJ, Wszolek ZK, Przedborski S, Krainc D, Dawson TM, Isacson O. Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Sci Transl Med. 2012 Jul 4; 4(141):141ra90.
View PubMed
Gaweda-Walerych K, Safranow K, Jasinska-Myga B, Bialecka M, Klodowska-Duda G, Rudzinska M, Czyzewski K, Cobb SA, Slawek J, Styczynska M, Opala G, Drozdzik M, Nishioka K, Farrer MJ, Ross OA, Wszolek ZK, Barcikowska M, Zekanowski C. PARK2 variability in Polish Parkinson's disease patients--interaction with mitochondrial haplogroups. Parkinsonism Relat Disord. 2012 Jun; 18(5):520-4. Epub 2012 Feb 22.
View PubMed
LeDoux MS, Xiao J, Rudzinska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momcilovic D, Vemula SR, Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord. 2012 Jun; 18(5):414-25. Epub 2012 Feb 28.
View PubMed
Rayaprolu S, Soto-Ortolaza A, Rademakers R, Uitti RJ, Wszolek ZK, Ross OA. Angiogenin variation and Parkinson disease. Ann Neurol 2012 May; 71 (5):725-7; author reply 727-8
View PubMed
Puschmann A, Englund E, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Törnqvist AL, Rehncrona S, Widner H, Wszolek ZK, Farrer MJ, Nilsson C. First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation. Parkinsonism Relat Disord. 2012 May; 18(4):332-8. Epub 2011 Dec 06.
View PubMed
Allen M, Zou F, Chai HS, Younkin CS, Miles R, Nair AA, Crook JE, Pankratz VS, Carrasquillo MM, Rowley CN, Nguyen T, Ma L, Malphrus KG, Bisceglio G, Ortolaza AI, Palusak R, Middha S, Maharjan S, Georgescu C, Schultz D, Rakhshan F, Kolbert CP, Jen J, Sando SB, Aasly JO, Barcikowska M, Uitti RJ, Wszolek ZK, Ross OA, Petersen RC, Graff-Radford NR, Dickson DW, Younkin SG, Ertekin-Taner N. Glutathione S-transferase omega genes in Alzheimer and Parkinson disease risk, age-at-diagnosis and brain gene expression: an association study with mechanistic implications. Mol Neurodegener. 2012 Apr 11; 7:13
View PubMed
Xiao J, Uitti RJ, Zhao Y, Vemula SR, Perlmutter JS, Wszolek ZK, Maraganore DM, Auburger G, Leube B, Lehnhoff K, LeDoux MS. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol. 2012 Apr; 71(4):458-69. Epub 2012 Mar 23.
View PubMed
Shi M, Furay AR, Sossi V, Aasly JO, Armaly J, Wang Y, Wszolek ZK, Uitti RJ, Hasegawa K, Yokoyama T, Zabetian CP, Leverenz JB, Stoessl AJ, Zhang J. DJ-1 and alphaSYN in LRRK2 CSF do not correlate with striatal dopaminergic function. Neurobiol Aging. 2012 Apr; 33(4):836.e5-7. Epub 2011 Oct 21.
View PubMed
Wider C, Ross OA, Nishioka K, Heckman MG, Vilarino-Guell C, Jasinska-Myga B, Erketin-Taner N, Rademakers R, Graff-Radford NR, Mash DC, Papapetropoulos S, Duara R, Uchikado H, Wszolek ZK, Farrer MJ, Dickson DW. An evaluation of the impact of MAPT, SNCA and APOE on the burden of Alzheimer's and Lewy body pathology. J Neurol Neurosurg Psychiatry. 2012 Apr; 83 (4):424-9 Epub 2012 Jan 30
View PubMed
Sundal C, Lash J, Aasly J, Oygarden S, Roeber S, Kretzschman H, Garbern JY, Tselis A, Rademakers R, Dickson DW, Broderick D, Wszolek ZK. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci. 2012 Mar 15; 314 (1-2):130-7 Epub 2011 Nov 01
View PubMed
Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor SA, Hamza TH, Hung AY, Hyman BT, Ivinson AJ, Krainc D, Latourelle JC, Clark LN, Marder K, Martin ER, Mayeux R, Ross OA, Scherzer CR, Simon DK, Tanner C, Vance JM, Wszolek ZK, Zabetian CP, Myers RH, Payami H, Scott WK, Foroud T. Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol. 2012 Mar; 71(3):370-84.
View PubMed
Whitwell JL, Weigand SD, Boeve BF, Senjem ML, Gunter JL, DeJesus-Hernandez M, Rutherford NJ, Baker M, Knopman DS, Wszolek ZK, Parisi JE, Dickson DW, Petersen RC, Rademakers R, Jack CR Jr, Josephs KA. Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics. Brain. 2012 Mar; 135 (Pt 3):794-806
View PubMed
Boeve BF, Boylan KB, Graff-Radford NR, DeJesus-Hernandez M, Knopman DS, Pedraza O, Vemuri P, Jones D, Lowe V, Murray ME, Dickson DW, Josephs KA, Rush BK, Machulda MM, Fields JA, Ferman TJ, Baker M, Rutherford NJ, Adamson J, Wszolek ZK, Adeli A, Savica R, Boot B, Kuntz KM, Gavrilova R, Reeves A, Whitwell J, Kantarci K, Jack CR Jr, Parisi JE, Lucas JA, Petersen RC, Rademakers R. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72. Brain. 2012 Mar; 135 (Pt 3):765-83
View PubMed
Jasinska-Myga B, Heckman MG, Wider C, Putzke JD, Wszolek ZK, Uitti RJ. Loss of ability to work and ability to live independently in Parkinson's disease. Parkinsonism Relat Disord. 2012 Feb; 18 (2):130-5 Epub 2011 Oct 04
View PubMed
Rutherford NJ, Finch NA, DeJesus-Hernandez M, Crook RJ, Lomen-Hoerth C, Wszolek ZK, Uitti RJ, Graff-Radford NR, Rademakers R. Pathogenicity of exonic indels in fused in sarcoma in amyotrophic lateral sclerosis. Neurobiol Aging. 2012 Feb; 33 (2):424.e23-4 Epub 2010 Nov 12
View PubMed
Aasly JO, Shi M, Sossi V, Stewart T, Johansen KK, Wszolek ZK, Uitti RJ, Hasegawa K, Yokoyama T, Zabetian CP, Kim HM, Leverenz JB, Ginghina C, Armaly J, Edwards KL, Snapinn KW, Stoessl AJ, Zhang J. Cerebrospinal fluid amyloid beta and tau in LRRK2 mutation carriers. Neurology. 2012 Jan 3; 78(1):55-61. Epub 2011 Dec 14.
View PubMed
Heckman MG, Soto-Ortolaza AI, Diehl NN, Carrasquillo MM, Uitti RJ, Wszolek ZK, Graff-Radford NR, Ross OA. Evaluation of the role of SNCA variants in survival without neurological disease. PLoS One. 2012; 7 (8):e42877 Epub 2012 Aug 13
View PubMed
Wray S, Self M, NINDS Parkinson's Disease iPSC Consortium, NINDS Huntington's Disease iPSC Consortium, NINDS ALS iPSC Consortium, Lewis PA, Taanman JW, Ryan NS, Mahoney CJ, Liang Y, Devine MJ, Sheerin UM, Houlden H, Morris HR, Healy D, Marti-Masso JF, Preza E, Barker S, Sutherland M, Corriveau RA, D'Andrea M, Schapira AH, Uitti RJ, Guttman M, Opala G, Jasinska-Myga B, Puschmann A, Nilsson C, Espay AJ, Slawek J, Gutmann L, Boeve BF, Boylan K, Stoessl AJ, Ross OA, Maragakis NJ, Van Gerpen J, Gerstenhaber M, Gwinn K, Dawson TM, Isacson O, Marder KS, Clark LN, Przedborski SE, Finkbeiner S, Rothstein JD, Wszolek ZK, Rossor MN, Hardy J. Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PLoS One. 2012; 7(8):e43099. Epub 2012 Aug 27.
View PubMed
Potts LF, Cambon AC, Ross OA, Rademakers R, Dickson DW, Uitti RJ, Wszolek ZK, Rai SN, Farrer MJ, Hein DW, Litvan I. Polymorphic genes of detoxification and mitochondrial enzymes and risk for progressive supranuclear palsy: a case control study. BMC Med Genet. 2012; 13:16. Epub 2012 Mar 17.
View PubMed
Wszolek ZK, Pfeiffer RF. Annual Report 2011 Parkinsonism and Related Disorders. 2012; 18:215.
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK. Autosomal dominant Parkinson's disease. Parkinsonism Related Disord. 2012; 18(Supplement 1):S7-S10.
Sundal C, Fujioka S, Uitti RJ, Wszolek ZK. Autosomal dominant Parkinson's disease. Parkinsonism Relat Disord. 2012 Jan; 18 Suppl 1:S7-10.
View PubMed
Fujioka S, Wszolek ZK. Update on genetics of parkinsonism. Neurodegener Dis. 2012; 10 (1-4):257-60 Epub 2012 Jan 17
View PubMed
Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2011 Dec 25; 44 (2):200-5
View PubMed
Murray ME, DeJesus-Hernandez M, Rutherford NJ, Baker M, Duara R, Graff-Radford NR, Wszolek ZK, Ferman TJ, Josephs KA, Boylan KB, Rademakers R, Dickson DW. Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72. Acta Neuropathol. 2011 Dec; 122 (6):673-90 Epub 2011 Nov 15
View PubMed
Ross OA, Conneely KN, Wang T, Vilarino-Guell C, Soto-Ortolaza AI, Rajput A, Wszolek ZK, Uitti RJ, Louis ED, Clark LN, Farrer MJ, Testa CM. Genetic variants of alpha-synuclein are not associated with essential tremor. Mov Disord. 2011 Dec; 26 (14):2552-6 Epub 2011 Oct 24
View PubMed
Angeles DC, Gan BH, Onstead L, Zhao Y, Lim KL, Dachsel J, Melrose H, Farrer M, Wszolek ZK, Dickson DW, Tan EK. Mutations in LRRK2 increase phosphorylation of peroxiredoxin 3 exacerbating oxidative stress-induced neuronal death. Hum Mutat. 2011 Dec; 32(12):1390-7. Epub 2011 Sep 12.
View PubMed
Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destee A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert JC, Lang AE, Mellick GD, De Nigris F, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Kruger R, Gepdc. Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease. Neurobiol Aging. 2011 Nov; 32(11):2108.e1-5. Epub 2011 Jul 22.
View PubMed
Kouri N, Murray ME, Hassan A, Rademakers R, Uitti RJ, Boeve BF, Graff-Radford NR, Wszolek ZK, Litvan I, Josephs KA, Dickson DW. Neuropathological features of corticobasal degeneration presenting as corticobasal syndrome or Richardson syndrome. Brain. 2011 Nov; 134 (Pt 11):3264-75 Epub 2011 Sept 20
View PubMed
Fujioka S, Wszolek ZK. Clinical aspects of familial forms of frontotemporal dementia associated with parkinsonism. J Mol Neurosci. 2011 Nov; 45 (3):359-65 Epub 2011 June 08
View PubMed
DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron. 2011 Oct 20; 72 (2):245-56 Epub 2011 Sept 21
View PubMed
Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin M, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JPA, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin C, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefeldt K, Wszolek ZK, Wu R, Farrer MJ. "Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: A case-control study": Erratum The Lancet Neurology. 2011 Oct; 10 (10):870
Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, Bacon JA, Bardien S, Bozi M, Brice A, Brighina L, Van Broeckhoven C, Carr J, Chartier-Harlin MC, Dardiotis E, Dickson DW, Diehl NN, Elbaz A, Ferrarese C, Ferraris A, Fiske B, Gibson JM, Gibson R, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lesage S, Lin CH, Lynch T, Maraganore DM, Mellick GD, Mutez E, Nilsson C, Opala G, Park SS, Puschmann A, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Theuns J, Tomiyama H, Uitti RJ, Valente EM, van de Loo S, Vassilatis DK, Vilarino-Guell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Farrer MJ, Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol. 2011 Oct; 10 (10):898-908 Epub 2011 Aug 30
View PubMed
DeJesus-Hernandez M, Desaro P, Johnston A, Ross OA, Wszolek ZK, Ertekin-Taner N, Graff-Radford NR, Rademakers R, Boylan K. Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS. Neurology. 2011 Sep 13; 77 (11):1102-3 Epub 2011 Aug 31
View PubMed
Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet. 2011 Sep 09; 89(3):398-406.
View PubMed
Whitwell JL, Josephs KA, Avula R, Tosakulwong N, Weigand SD, Senjem ML, Vemuri P, Jones DT, Gunter JL, Baker M, Wszolek ZK, Knopman DS, Rademakers R, Petersen RC, Boeve BF, Jack CR Jr. Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD. Neurology. 2011 Aug 30; 77 (9):866-74 Epub 2011 Aug 17
View PubMed
Ferman TJ, Boeve BF, Smith GE, Lin SC, Silber MH, Pedraza O, Wszolek Z, Graff-Radford NR, Uitti R, Van Gerpen J, Pao W, Knopman D, Pankratz VS, Kantarci K, Boot B, Parisi JE, Dugger BN, Fujishiro H, Petersen RC, Dickson DW. Inclusion of RBD improves the diagnostic classification of dementia with Lewy bodies. Neurology. 2011 Aug 30; 77 (9):875-82 Epub 2011 Aug 17
View PubMed
Ross OA, Rutherford NJ, Baker M, Soto-Ortolaza AI, Carrasquillo MM, DeJesus-Hernandez M, Adamson J, Li M, Volkening K, Finger E, Seeley WW, Hatanpaa KJ, Lomen-Hoerth C, Kertesz A, Bigio EH, Lippa C, Woodruff BK, Knopman DS, White CL 3rd, Van Gerpen JA, Meschia JF, Mackenzie IR, Boylan K, Boeve BF, Miller BL, Strong MJ, Uitti RJ, Younkin SG, Graff-Radford NR, Petersen RC, Wszolek ZK, Dickson DW, Rademakers R. Ataxin-2 repeat-length variation and neurodegeneration. Hum Mol Genet. 2011 Aug 15; 20 (16):3207-12 Epub 2011 May 24
View PubMed
Fujioka S, Murray ME, Foroutan P, Schweitzer KJ, Dickson DW, Grant SC, Wszolek ZK. [Magnetic resonance imaging with 21.1 T and pathological correlations--diffuse Lewy body disease]. Rinsho Shinkeigaku. 2011 Aug; 51 (8):603-7
View PubMed
Puschmann A, Xiao J, Bastian RW, Searcy JA, LeDoux MS, Wszolek ZK. An African-American family with dystonia. Parkinsonism Relat Disord. 2011 Aug; 17 (7):547-50 Epub 2011 May 20
View PubMed
Carrasquillo MM, Belbin O, Hunter TA, Ma L, Bisceglio GD, Zou F, Crook JE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, Passmore P, Morgan K, Younkin SG, Alzheimer's Research UK (ARUK) consortium. Replication of EPHA1 and CD33 associations with late-onset Alzheimer's disease: a multi-centre case-control study. Mol Neurodegener. 2011 Jul 28; 6 (1):54 Epub 2011 July 28
View PubMed
Whitwell JL, Weigand SD, Gunter JL, Boeve BF, Rademakers R, Baker M, Knopman DS, Wszolek ZK, Petersen RC, Jack CR Jr, Josephs KA. Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN. Neurology. 2011 Jul 26; 77 (4):393-8 Epub 2011 July 13
View PubMed
Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ, Soto-Ortolaza AI, Cobb SA, Wilhoite GJ, Bacon JA, Behrouz B, Melrose HL, Hentati E, Puschmann A, Evans DM, Conibear E, Wasserman WW, Aasly JO, Burkhard PR, Djaldetti R, Ghika J, Hentati F, Krygowska-Wajs A, Lynch T, Melamed E, Rajput A, Rajput AH, Solida A, Wu RM, Uitti RJ, Wszolek ZK, Vingerhoets F, Farrer MJ. VPS35 mutations in Parkinson disease. Am J Hum Genet. 2011 Jul 15; 89(1):162-7.
View PubMed
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P, PSP Genetics Study Group, Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011 Jun 19; 43(7):699-705.
View PubMed
Spector AR, Dugger BN, Wszolek ZK, Uitti RJ, Fredrickson P, Kaplan J, Boeve BF, Dickson DW, Strongosky A, Lin SC. Anatomy of disturbed sleep in pallido-ponto-nigral degeneration. Ann Neurol. 2011 Jun; 69 (6):1014-1025
View PubMed
Wider C, Vilarino-Guell C, Heckman MG, Jasinska-Myga B, Ortolaza-Soto AI, Diehl NN, Crook JE, Cobb SA, Bacon JA, Aasly JO, Gibson JM, Lynch T, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. SNCA, MAPT, and GSK3B in Parkinson disease: a gene-gene interaction study. Eur J Neurol. 2011 Jun; 18 (6):876-81 Epub 2010 Dec 15
View PubMed
Puschmann A, Verbeeck C, Heckman MG, Soto-Ortolaza AI, Lynch T, Jasinska-Myga B, Opala G, Krygowska-Wajs A, Barcikowska M, Uitti RJ, Wszolek ZK, Ross OA. Human leukocyte antigen variation and Parkinson's disease. Parkinsonism Relat Disord. 2011 Jun; 17 (5):376-8 Epub 2011 Apr 11
View PubMed
Puschmann A, Pfeiffer RF, Stoessl AJ, Kuriakose R, Lash JL, Searcy JA, Strongosky AJ, Vilarino-Guell C, Farrer MJ, Ross OA, Dickson DW, Wszolek ZK. A family with Parkinsonism, essential tremor, restless legs syndrome, and depression. Neurology. 2011 May 10; 76 (19):1623-30
View PubMed
Elbaz A, Ross OA, Ioannidis JP, Soto-Ortolaza AI, Moisan F, Aasly J, Annesi G, Bozi M, Brighina L, Chartier-Harlin MC, Destee A, Ferrarese C, Ferraris A, Gibson JM, Gispert S, Hadjigeorgiou GM, Jasinska-Myga B, Klein C, Kruger R, Lambert JC, Lohmann K, van de Loo S, Loriot MA, Lynch T, Mellick GD, Mutez E, Nilsson C, Opala G, Puschmann A, Quattrone A, Sharma M, Silburn PA, Stefanis L, Uitti RJ, Valente EM, Vilarino-Guell C, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Maraganore DM, Farrer MJ, Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Independent and joint effects of the MAPT and SNCA genes in Parkinson disease. Ann Neurol. 2011 May; 69 (5):778-92 Epub 2011 Mar 09
View PubMed
Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Ruther E, Schurmann B, Heun R, Kolsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frolich L, Hampel H, Gallacher J, Hull M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Muhleisen TW, Nothen MM, Moebus S, Jockel KH, Klopp N, Wichmann HE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, van Duijn CM, Breteler MM, Ikram MA, DeStefano AL, Fitzpatrick AL, Lopez O, Launer LJ, Seshadri S, Berr C, Campion D, Epelbaum J, Dartigues JF, Tzourio C, Alperovitch A, Lathrop M, Feulner TM, Friedrich P, Riehle C, Krawczak M, Schreiber S, Mayhaus M, Nicolhaus S, Wagenpfeil S, Steinberg S, Stefansson H, Stefansson K, Snaedal J, Bjornsson S, Jonsson PV, Chouraki V, Genier-Boley B, Hiltunen M, Soininen H, Combarros O, Zelenika D, Delepine M, Bullido MJ, Pasquier F, Mateo I, Frank-Garcia A, Porcellini E, Hanon O, Coto E, Alvarez V, Bosco P, Siciliano G, Mancuso M, Panza F, Solfrizzi V, Nacmias B, Sorbi S, Bossu P, Piccardi P, Arosio B, Annoni G, Seripa D, Pilotto A, Scarpini E, Galimberti D, Brice A, Hannequin D, Licastro F, Jones L, Holmans PA, Jonsson T, Riemenschneider M, Morgan K, Younkin SG, Owen MJ, O'Donovan M, Amouyel P, Williams J, Alzheimer's Disease Neuroimaging Initiative//CHARGE consortium//EADI1 consortium, Williams J. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011 May; 43 (5):429-35 Epub 2011 Apr 03
View PubMed
Kruger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Genetic Epidemiology of Parkinson's disease consortium. A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging. 2011 Mar; 32(3):548.e9-18. Epub 2009 Dec 24.
View PubMed
Narozanska E, Jasinska-Myga B, Sitek EJ, Robowski P, Brockhuis B, Lass P, Dubaniewicz M, Wieczorek D, Baker M, Rademakers R, Wszolek ZK, Slawek J. Frontotemporal dementia and parkinsonism linked to chromosome 17--the first Polish family. Eur J Neurol. 2011 Mar; 18(3):535-7.
View PubMed
Vilarino-Guell C, Soto-Ortolaza AI, Rajput A, Mash DC, Papapetropoulos S, Pahwa R, Lyons KE, Uitti RJ, Wszolek ZK, Dickson DW, Farrer MJ, Ross OA. MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy. Neurology. 2011 Feb 15; 76 (7):670-2
View PubMed
Puschmann A, Wszolek ZK. Diagnosis and treatment of common forms of tremor. Semin Neurol. 2011 Feb; 31 (1):65-77 Epub 2011 Feb 14
View PubMed
Finch N, Carrasquillo MM, Baker M, Rutherford NJ, Coppola G, Dejesus-Hernandez M, Crook R, Hunter T, Ghidoni R, Benussi L, Crook J, Finger E, Hantanpaa KJ, Karydas AM, Sengdy P, Gonzalez J, Seeley WW, Johnson N, Beach TG, Mesulam M, Forloni G, Kertesz A, Knopman DS, Uitti R, White CL 3rd, Caselli R, Lippa C, Bigio EH, Wszolek ZK, Binetti G, Mackenzie IR, Miller BL, Boeve BF, Younkin SG, Dickson DW, Petersen RC, Graff-Radford NR, Geschwind DH, Rademakers R. TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers. Neurology. 2011 Feb 1; 76 (5):467-74 Epub 2010 Dec 22
View PubMed
Fujioka S, Murray ME, Foroutan P, Schweitzer KJ, Dickson DW, Grant SC, Wszolek ZK. Magnetic resonance imaging with 21.1T and pathological correlations - diffuse Lewy body disease Clinical Neurology. 2011; 51:603-07.
Ross OA, Conneely KN, Wang T, Vilarino-Guell C, Soto-Ortolaza AI, Rajput A, Wszolek ZK, Uitti RJ, Louis ED, Clark LN, Farrer MJ, Testa CM. Genetic variants of α-synuclein are not associated with essential tremor. Movement Disorders. 2011.
Shi M, Furay AR, Sossi V, Aasly JO, Armaly J, Wang Y, Wszolek ZK, Uitti RJ, Hasegawa K, Yokoyama T, Zabetian CP, Leverenz JB, Stoessl AJ, Zhang J. DJ-1 and SYN in LLLRK2 CSF do not correlate with striatal dopaminergic function Neurobiol Aging. 2011.
Winkelmann J, Czamara D, Schormair B, Knauf F, Schulte EC, Trenkwalder C, Dauvilliers Y, Polo O, Högl B, Berger K, Fuhs A, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Xiong L, Montplaisir J, Rouleau GA, Fietze I, Vávrová J, Kemlink D, Sonka K, Nevsimalova S, Lin S-C, Wszolek Z, Vilariño-Güell C, Farrer MJ, Gschliesser V, Frauscher B, Falkenstetter T, Poewe W, Allen RP, Earley CJ, Ondo WG, Le W-D, Spieler D, Kaffe M, Zimprich A, Kettunen J, Perola M, Silander K, Cournu-Rebeix I, Francavilla M, Fontenille C, Fontaine B, Vodicka P, Prokisch H, Lichtner P, Peppard P, Faraco J, Mignot E, Gieger C, Illig T, Wichmann H-E, Müller-Myhsok B, Meitinger T. Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. PloS Genetics. 2011; 7:1-10.
Sitek EJ, Barczak A, Narozanska E, Chodakowska-Zebrowska M, Jasinska B, Brockhuis B, Berdynski M, Wieczorek D, Zekanowski C, Konieczna S, Barcikowska M, Wszolek ZK, Slawek J. The role of neuropsychological assessment in the detection of early symptoms in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Acta Neuropsychologica. 2011; 9(2):209-26.
Galazka-Friedman J, Bauminger ER, Szlachta K, Koziorowski D, Tomasiuk R, Jaklewicz A, Wszolek ZK, Dickson D, Kaplinska K, Friedman A. Iron in Alzheimer's and control hippocampi - Mossbauer, atomic absorption and ELISA studies. Acta Physica Polonica A. 2011; 119(1):81-3.
Carrasquillo MM, Belbin O, Hunter TA, Ma L, Bisceglio GD, Zou F, Crook JE, Pankratz VS, Sando SB, Aasly JO, Barcikowska M, Wszolek ZK, Dickson DW, Graff-Radford NR, Petersen RC, Morgan K, Younkin SG. Replication of BIN1 association with Alzheimer's disease and evaluation of genetic interactions. J Alzheimers Dis. 2011; 24 (4):751-8
View PubMed
Nishioka K, Ross OA, Vilarino-Guell C, Cobb SA, Kachergus JM, Mann DM, Snowden J, Richardson AM, Neary D, Robinson CA, Rajput A, Papapetropoulos S, Mash DC, Pahwa R, Lyons KE, Wszolek ZK, Dickson DW, Farrer MJ. Glucocerebrosidase mutations in diffuse Lewy body disease. Parkinsonism Relat Disord. 2011 Jan; 17 (1):55-7
View PubMed
Gabryelewicz T, Masellis M, Berdynski M, Bilbao JM, Rogaeva E, St George-Hyslop P, Barczak A, Czyzewski K, Barcikowska M, Wszolek Z, Black SE, Zekanowski C. Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN). J Alzheimer's Dis. 2011; 22(4):1123-33.
Whaley NR, Fujioka S, Wszolek ZK. Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. Orphanet J Rare Dis. 2011; 6:33. Epub 2011 May 28.
View PubMed
Behrouz B, Vilarino-Guell C, Heckman MG, Soto-Ortolaza AI, Aasly JO, Sando S, Lynch T, Craig D, Uitti RJ, Wszolek ZK, Ross OA, Farrer MJ. Mitochondrial translation initiation factor 3 polymorphism and Parkinson's disease. Neurosci Lett. 2010 Dec 17; 486 (3):228-30 Epub 2010 Sept 29
View PubMed
Sossi V, de la Fuente-Fernandez R, Nandhagopal R, Schulzer M, McKenzie J, Ruth TJ, Aasly JO, Farrer MJ, Wszolek ZK, Stoessl JA. Dopamine turnover increases in asymptomatic LRRK2 mutations carriers. Mov Disord. 2010 Dec 15; 25(16):2717-23.
View PubMed
Vilarino-Guell C, Wider C, Ross OA, Jasinska-Myga B, Kachergus J, Cobb SA, Soto-Ortolaza AI, Behrouz B, Heckman MG, Diehl NN, Testa CM, Wszolek ZK, Uitti RJ, Jankovic J, Louis ED, Clark LN, Rajput A, Farrer MJ. LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease. Neurogenetics. 2010 Oct; 11 (4):401-8 Epub 2010 Apr 06
View PubMed
Ross OA, Wilhoite GJ, Bacon JA, Soto-Ortolaza A, Kachergus J, Cobb SA, Puschmann A, Vilarino-Guell C, Farrer MJ, Graff-Radford N, Meschia JF, Wszolek ZK. LRRK2 variation and Parkinson's disease in African Americans. Mov Disord. 2010 Sep 15; 25 (12):1973-6
View PubMed
Kantarci K, Boeve BF, Wszolek ZK, Rademakers R, Whitwell JL, Baker MC, Senjem ML, Samikoglu AR, Knopman DS, Petersen RC, Jack CR Jr. MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology. Neurology. 2010 Aug 31; 75 (9):771-8
View PubMed
Nishioka K, Wider C, Vilariño-Güell C, Soto-Ortolaza AI, Lincoln SJ, Kachergus JM, Jasinska-Myga B, Ross OA, Rajput A, Robinson CA, Ferman TJ, Wszolek ZK, Dickson DW, Farrer MJ. Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease. Arch Neurol. 2010 Aug; 67(8):970-5.
View PubMed
Wider C, Ross OA, Wszolek ZK. Genetics of Parkinson disease and essential tremor. Curr Opin Neurol. 2010 Aug; 23(4):388-93.
View PubMed
Lin WL, Wszolek ZK, Dickson DW. Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic studies. Int J Clin Exp Pathol. 2010 Jul 26; 3 (7):665-74 Epub 2010 July 26
View PubMed
Miyoshi M, Shinotoh H, Wszolek ZK, Strongosky AJ, Shimada H, Arakawa R, Higuchi M, Ikoma Y, Yasuno F, Fukushi K, Irie T, Ito H, Suhara T. In vivo detection of neuropathologic changes in presymptomatic MAPT mutation carriers: a PET and MRI study. Parkinsonism Relat Disord. 2010 Jul; 16(6):404-8. Epub 2010 May 10.
View PubMed
Seidel K, Schols L, Nuber S, Petrasch-Parwez E, Gierga K, Wszolek Z, Dickson D, Gai WP, Bornemann A, Riess O, Rami A, den Dunnen WFA, Deller T, Rub U, Kruger R. "First appraisal of brain pathology owing to A30P mutant alpha-synuclein": Errata. Ann Neurol. 2010 Jun; 67(6):841.
Wypijewska A, Galazka-Friedman J, Bauminger ER, Wszolek ZK, Schweitzer KJ, Dickson DW, Jaklewicz A, Elbaum D, Friedman A. Iron and reactive oxygen species activity in parkinsonian substantia nigra. Parkinsonism Relat Disord. 2010 Jun; 16(5):329-33. Epub 2010 Mar 09.
View PubMed
Schweitzer KJ, Foroutan P, Dickson DW, Broderick DF, Klose U, Berg D, Wszolek ZK, Grant SC. A novel approach to dementia: high-resolution 1H MRI of the human hippocampus performed at 21.1 T. Neurology. 2010 May 18; 74(20):1654.
View PubMed
Seidel K, Schols L, Nuber S, Petrasch-Parwez E, Gierga K, Wszolek Z, Dickson D, Gai WP, Bornemann A, Riess O, Rami A, Den Dunnen WF, Deller T, Rub U, Kruger R. First appraisal of brain pathology owing to A30P mutant alpha-synuclein. Ann Neurol. 2010 May; 67(5):684-9.
View PubMed
DeJesus-Hernandez M, Kocerha J, Finch N, Crook R, Baker M, Desaro P, Johnston A, Rutherford N, Wojtas A, Kennelly K, Wszolek ZK, Graff-Radford N, Boylan K, Rademakers R. De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis. Hum Mutat. 2010 May; 31 (5):E1377-89
View PubMed
Vilarino-Guell C, Wider C, Aasly JO, White LR, Rajput A, Rajput AH, Lynch T, Krygowska-Wajs A, Jasinska-Myga B, Opala G, Barcikowska M, Czyzewski K, Wu RM, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. Association of pyridoxal kinase and Parkinson disease. Ann Neurol. 2010 Mar; 67(3):409-11. Epub 1900 Jan 01.
View PubMed
Wider C, Vilarino-Guell C, Jasinska-Myga B, Heckman MG, Soto-Ortolaza AI, Cobb SA, Aasly JO, Gibson JM, Lynch T, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. Association of the MAPT locus with Parkinson's disease. Eur J Neurol. 2010 Mar; 17 (3):483-6 Epub 2009 Nov 12
View PubMed
Wider C, Dachsel JC, Farrer MJ, Dickson DW, Tsuboi Y, Wszolek ZK. Elucidating the genetics and pathology of Perry syndrome. J Neurol Sci. 2010 Feb 15; 289 (1-2):149-54 Epub 2009 Sept 04
View PubMed
Soto-Ortolaza AI, Behrouz B, Wider C, Vilarino-Guell C, Heckman MG, Aasly JO, Mark Gibson J, Lynch T, Jasinska-Myga B, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. Calbindin-1 association and Parkinson's disease. Eur J Neurol. 2010 Feb; 17 (2):208-11 Epub 2009 Aug 05
View PubMed
Keeling BH, Vilarino-Guell C, Soto-Ortolaza AI, Ross OA, Uitti RJ, Rajput A, Wszolek ZK, Farrer MJ. Histamine N-methyltransferase Thr105Ile is not associated with Parkinson's disease or essential tremor. Parkinsonism Relat Disord. 2010 Feb; 16 (2):112-4 Epub 2009 Sept 20
View PubMed
Vilarino-Guell C, Ross OA, Wider C, Jasinska-Myga B, Cobb SA, Soto-Ortolaza AI, Kachergus JM, Keeling BH, Dachsel JC, Melrose HL, Behrouz B, Wszolek ZK, Uitti RJ, Aasly JO, Rajput A, Farrer MJ. LINGO1 rs9652490 is associated with essential tremor and Parkinson disease. Parkinsonism Relat Disord. 2010 Feb; 16 (2):109-11 Epub 2009 Aug 31
View PubMed
Xiao J, Zhao Y, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Wszolek ZK, Uitti RJ, Van Gerpen JA, Simon DK, Tarsy D, Hedera P, Truong DD, Frei KP, Dev Batish S, Blitzer A, Pfeiffer RF, Gong S, LeDoux MS. Novel THAP1 sequence variants in primary dystonia. Neurology. 2010 Jan 19; 74(3):229-38.
View PubMed
Gałązka-Friedman J, Bauminger ER, Szlachta K, Koziorowski D, Tomasiuk R, Jaklewicz A, Wszolek ZK, Dickson D, Kaplińska K, Freiedman A. Iron in Alzheimer's and control hippocampi - Mössbauer, atomic absorption and ELISA studies. Acta Physica Polonica. 2010; 119:81-83.
Nishioka K, Wider C, Vilariño-Güell C, Soto-Ortolaza AI, Lincoln SJ, Kachergus JM, Jasinska-Myga B, Ross OA, Rajput A, Robinson CA, Ferman TJ, Wszolek ZK, Dickson DW, Farrer MJ. Association of α-, β-, and γ-synuclein with diffuse Lewy body disease. Arch Neurol. 2010; 67:970-975.
Jasinska-Myga B, Putzke JD, Wider C, Wszolek ZK, Uitti RJ. Depression in Parkinson's disease. Can J Neurol Sci. 2010; 37:61-66.
Wider C, Foroud T, Wszolek ZK. Clinical implications of gene discovery in Parkinson's disease and parkinsonism. Mov Disord. 2010; 25 Suppl 1:S15-20
View PubMed
Wider C, Dickson DW, Wszolek ZK. Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation. Neurodegener Dis. 2010; 7 (1-3):175-9 Epub 2010 Mar 03
View PubMed
Soto-Ortolaza AI, Behrouz B, Wider C, Vilariño-Güell C, Heckman MG, Aasly JO, Gibson JM, Lynch T, Jasinska-Myga B, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. Calbindin-1 association and Parkinson's disease. European J Neurol. 2010; 17:208-211.
Jasinska-Myga B, Putzke JD, Wider C, Wszolek ZK, Uitti RJ. Depression in Parkinson's disease. Can J Neurol Sci. 2010 Jan; 37 (1):61-6
View PubMed
Broderick DF, Schweitzer KJ, Wszolek ZK. Vascular risk factors and dementia: how to move forward? Neurology. 2009 Dec 1; 73: (22)1934-5.
View PubMed
Dickson DW, Braak H, Duda JE, Duyckaerts C, Gasser T, Halliday GM, Hardy J, Leverenz JB, Del Tredici K, Wszolek ZK, Litvan I. Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. Lancet Neurol. 2009 Dec; 8 (12):1150-7
View PubMed
Haugarvoll K, Wszolek ZK. Clinical features of LRRK2 parkinsonism. Parkinsonism Relat Disord. 2009 Dec; 15 Suppl 3:S205-8.
View PubMed
Puschmann A, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Lindquist SG, Nielsen JE, Wszolek ZK, Farrer M, Widner H, van Westen D, Hägerström D, Markopoulou K, Chase BA, Nilsson K, Reimer J, Nilsson C. A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction. Parkinsonism Relat Disord. 2009 Nov; 15(9):627-32. Epub 2009 Jul 25.
View PubMed
Krygowska-Wajs A, Cheshire WP Jr, Wszolek ZK, Hubalewska-Dydejczyk A, Jasinska-Myga B, Farrer MJ, Moskala M, Sowa-Staszczak A. Evaluation of gastric emptying in familial and sporadic Parkinson disease. Parkinsonism Relat Disord. 2009 Nov; 15(9):692-6. Epub 2009 May 17.
View PubMed
Cobb SA, Wider C, Ross OA, Mata IF, Adler CH, Rajput A, Rajput AH, Wu RM, Hauser R, Josephs KA, Carr J, Gwinn K, Heckman MG, Aasly JO, Lynch T, Uitti RJ, Wszolek ZK, Kapatos G, Farrer MJ. GCH1 in darly-onset Parkinson's disease. Mov Disord. 2009 Oct 30; 24(14):2070-5.
Cobb SA, Wider C, Ross OA, Mata IF, Adler CH, Rajput A, Rajput AH, Wu RM, Hauser R, Josephs KA, Carr J, Gwinn K, Heckman MG, Aasly JO, Lynch T, Uitti RJ, Wszolek ZK, Kapatos G, Farrer MJ. GCH1 in early-onset Parkinson's disease. Mov Disord. 2009 Oct 30; 24 (14):2070-5
View PubMed
Wider C, Lincoln S, Dachsel JC, Kapatos G, Heckman MG, Diehl NN, Papapetropoulos S, Mash D, Rajput A, Rajput AH, Dickson DW, Wszolek ZK, Farrer MJ. GCH1 expression in human cerebellum from healthy individuals is not gender dependent. Neurosci Lett. 2009 Oct 02; 462(1):73-5. Epub 2009 Jun 30.
View PubMed
Whitwell JL, Jack CR Jr, Boeve BF, Senjem ML, Baker M, Ivnik RJ, Knopman DS, Wszolek ZK, Petersen RC, Rademakers R, Josephs KA. Atrophy patterns in IVS10+16, IVS10+3, N279K, S305N, P301L, and V337M MAPT mutations. Neurology. 2009 Sep 29; 73 (13):1058-65
View PubMed
Keeling BH, Vilarino-Guell C, Ross OA, Wszolek ZK, Uitti RJ, Farrer MJ. DRD3 Ser9Gly and HS1BP3 Ala265Gly are not associated with Parkinson disease. Neurosci Lett. 2009 Sep 18; 461 (2):74-5 Epub 2009 June 12
View PubMed
Golub Y, Berg D, Calne DB, Pfeiffer RF, Uitti RJ, Stoessl AJ, Wszolek ZK, Farrer MJ, Mueller JC, Gasser T, Fuchs J. Genetic factors influencing age at onset in LRRK2-linked Parkinson disease. Parkinsonism Relat Disord. 2009 Aug; 15(7):539-41. Epub 2008 Nov 28.
View PubMed
Sitek EJ, Narozanska E, Slawek J, Wieczorek D, Brockhuis B, Lass P, Dubaniewicz M, Jasinska-Myga B, Baker M, Rademakers R, Wszolek ZK. Unilateral neglect in a patient diagnosed with frontotemporal dementia and parkinsonism linked to chromosome 17. Acta Neuropsychiatr. 2009 Aug; 21(4):209-10.
View PubMed
Jasinska-Myga B, Wider C, Opala G, Krygowska-Wajs A, Barcikowska M, Czyzewski K, Baker M, Rademakers R, Uitti RJ, Farrer MJ, Ross OA, Wszolek ZK. GRN 3'UTR+78 C>T is not associated with risk for Parkinson's disease. Eur J Neurol. 2009 Aug; 16 (8):909-11 Epub 2009 Mar 31
View PubMed
Vilarino-Guell C, Chai H, Keeling BH, Young JE, Rajput A, Lynch T, Aasly JO, Uitti RJ, Wszolek ZK, Farrer MJ, Lin SC. MEIS1 p.R272H in familial restless legs syndrome. Neurology. 2009 Jul 21; 73 (3):243-5
View PubMed
Vilarino-Guell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destee A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ. Characterization of DCTN1 genetic variability in neurodegeneration. Neurology. 2009 Jun 9; 72 (23):2024-8
View PubMed
Wider C, Van Gerpen JA, DeArmond S, Shuster EA, Dickson DW, Wszolek ZK. Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology. 2009 Jun 2; 72 (22):1953-9
View PubMed
Puschmann A, Wszolek ZK, Farrer M, Gustafson L, Widner H, Nilsson C. Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus? Parkinsonism Relat Disord. 2009 Jun; 15(5):390-2. Epub 2008 Sep 27.
View PubMed
Hasegawa K, Stoessl AJ, Yokoyama T, Kowa H, Wszolek ZK, Yagishita S. Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes. Parkinsonism Relat Disord. 2009 May; 15(4):300-6. Epub 2008 Sep 18.
View PubMed
Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, Gutmann L, Lechevalier B, Calne DB, Personett DA, Hulihan M, Kachergus J, Rademakers R, Baker MC, Grantier LL, Sujith OK, Brown L, Calne S, Farrer MJ, Wszolek ZK. Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord. 2009 May; 15 (4):281-6 Epub 2008 Aug 23
View PubMed
Wider C, Lincoln SJ, Heckman MG, Diehl NN, Stone JT, Haugarvoll K, Aasly JO, Gibson JM, Lynch T, Rajput A, Rajput ML, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. Phactr2 and Parkinson's disease. Neurosci Lett. 2009 Mar 27; 453(1):9-11. Epub 2009 Feb 10.
View PubMed
Whitwell JL, Jack CR Jr, Boeve BF, Senjem ML, Baker M, Rademakers R, Ivnik RJ, Knopman DS, Wszolek ZK, Petersen RC, Josephs KA. Voxel-based morphometry patterns of atrophy in FTLD with mutations in MAPT or PGRN. Neurology. 2009 Mar 3; 72 (9):813-20
View PubMed
Haugarvoll K, Toft M, Skipper L, Heckman MG, Crook JE, Soto A, Ross OA, Hulihan MM, Kachergus JM, Sando SB, White LR, Lynch T, Gibson JM, Uitti RJ, Wszolek ZK, Aasly JO, Farrer MJ. Fine-mapping and candidate gene investigation within the PARK10 locus. Eur J Hum Genet. 2009 Mar; 17 (3):336-43 Epub 2008 Oct 15
View PubMed
Ludolph AC, Kassubek J, Landwehrmeyer BG, Mandelkow E, Mandelkow EM, Burn DJ, Caparros-Lefebvre D, Frey KA, de Yebenes JG, Gasser T, Heutink P, Hoglinger G, Jamrozik Z, Jellinger KA, Kazantsev A, Kretzschmar H, Lang AE, Litvan I, Lucas JJ, McGeer PL, Melquist S, Oertel W, Otto M, Paviour D, Reum T, Saint-Raymond A, Steele JC, Tolnay M, Tumani H, van Swieten JC, Vanier MT, Vonsattel JP, Wagner S, Wszolek ZK, Reisensburg Working Group for Tauopathies With Parkinsonism. Tauopathies with parkinsonism: clinical spectrum, neuropathologic basis, biological markers, and treatment options. Eur J Neurol. 2009 Mar; 16(3):297-309.
View PubMed
Wider C, Dachsel JC, Soto AI, Heckman MG, Diehl NN, Yue M, Lincoln S, Aasly JO, Haugarvoll K, Trojanowski JQ, Papapetropoulos S, Mash D, Rajput A, Rajput AH, Gibson JM, Lynch T, Dickson DW, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression. Mov Disord. 2009 Feb 15; 24(3):455-9.
View PubMed
Young JE, Vilarino-Guell C, Lin SC, Wszolek ZK, Farrer MJ. Clinical and genetic description of a family with a high prevalence of autosomal dominant restless legs syndrome. Mayo Clin Proc. 2009 Feb; 84 (2):134-8
View PubMed
Farrer MJ, Hulihan MM, Kachergus JM, Dachsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilarino-Guell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. DCTN1 mutations in Perry syndrome. Nat Genet. 2009 Feb; 41 (2):163-5 Epub 2009 Jan 11
View PubMed
Wider C, Dachsel JC, Soto AI, Heckman MG, Diehl NN, Yue M, Lincoln S, Aasly JO, Haugarvoll K, Trojanowski JO, Papapetropoulos S, Mash D, Rajput A, Rajput AH, Gibson JM, Lynch T, Dickson DW, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. FGF20 and Parkinson's disease: no evidence of association or pathogenicity via α-synuclein expression. Mov Disord. 2009; 24:455-459.
Xiao J, Bastian RW, Perlmutter JS, Racette BA, Tabbal SD, Karimi M, Paniello RC, Blitzer A, Batish SD, Wszolek ZK, Uitti RJ, Hedera P, Simon DK, Tarsy D, Truong DD, Frei KP, Pfeiffer RF, Gong S, Zhao Y, LeDoux MS. High-throughput mutational analysis of TOR1A in primary dystonia. BMC Med Genetics. 2009; 10:1-10.
Gałązka-Friedman J, Bauminger ER, Szlachta K, Schweitzer K, Wszolek Z, Dickson D, Friednman A. Mössbauer studies of pathological brain tissues affected by PSP disease. Acta Physica Polonica. 2009; 115:545-547.
Wider C, Wszolek ZK. Movement disorders: insights into mechanisms and hopes for treatment. Lancet Neurol. 2009 Jan; 8(1):8-10.
View PubMed
Wider C, Lincoln SJ, Heckman MG, Diehl NN, Stone JT, Haugarvoll K, Aasly JO, Gibson JM, Lynch T, Rajput A, Rajput ML, Uitti RJ, Wszolek ZK, Farrer MJ, Ross OA. Phactr2 and Parkinson's disease. Neuroscience Letters. 2009; 453:9-11.
Rademakers R, Eriksen JL, Baker M, Robinson T, Ahmed Z, Lincoln SJ, Finch N, Rutherford NJ, Crook RJ, Josephs KA, Boeve BF, Knopman DS, Petersen RC, Parisi JE, Caselli RJ, Wszolek ZK, Uitti RJ, Feldman H, Hutton ML, Mackenzie IR, Graff-Radford NR, Dickson DW. Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia. Hum Mol Genet. 2008 Dec 1; 17 (23):3631-42 Epub 2008 Aug 21
View PubMed
Nandhagopal R, Mak E, Schulzer M, McKenzie J, McCormick S, Sossi V, Ruth TJ, Strongosky A, Farrer MJ, Wszolek ZK, Stoessl AJ. Progression of dopaminergic dysfunction in a LRRK2 kindred: a multitracer PET study. Neurology. 2008 Nov 25; 71(22):1790-5.
View PubMed
Ross OA, Heckman MG, Soto AI, Diehl NN, Haugarvoll K, Vilarino-Guell C, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ. Dopamine beta-hydroxylase -1021C>T association and Parkinson's disease. Parkinsonism Relat Disord. 2008 Nov; 14 (7):544-7 Epub 2008 Aug 22
View PubMed
Ross OA, Soto AI, Vilarino-Guell C, Heckman MG, Diehl NN, Hulihan MM, Aasly JO, Sando S, Gibson JM, Lynch T, Krygowska-Wajs A, Opala G, Barcikowska M, Czyzewski K, Uitti RJ, Wszolek ZK, Farrer MJ. Genetic variation of Omi/HtrA2 and Parkinson's disease. Parkinsonism Relat Disord. 2008 Nov; 14 (7):539-43 Epub 2008 Sept 14
View PubMed
Rutherford NJ, Zhang YJ, Baker M, Gass JM, Finch NA, Xu YF, Stewart H, Kelley BJ, Kuntz K, Crook RJ, Sreedharan J, Vance C, Sorenson E, Lippa C, Bigio EH, Geschwind DH, Knopman DS, Mitsumoto H, Petersen RC, Cashman NR, Hutton M, Shaw CE, Boylan KB, Boeve B, Graff-Radford NR, Wszolek ZK, Caselli RJ, Dickson DW, Mackenzie IR, Petrucelli L, Rademakers R. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet. 2008 Sep 19; 4 (9):e1000193 Epub 2008 Sept 19
View PubMed
Van Gerpen JA, Wider C, Broderick DF, Dickson DW, Brown LA, Wszolek ZK. Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology. 2008 Sep 16; 71 (12):925-9
View PubMed
Wider C, Skipper L, Solida A, Brown L, Farrer M, Dickson D, Wszolek ZK, Vingerhoets FJ. Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family. Parkinsonism Relat Disord. 2008 Aug; 14(6):465-70. Epub 2008 Mar 14.
View PubMed
DelleDonne A, Klos KJ, Fujishiro H, Ahmed Z, Parisi JE, Josephs KA, Frigerio R, Burnett M, Wszolek ZK, Uitti RJ, Ahlskog JE, Dickson DW. Incidental Lewy body disease and preclinical Parkinson disease. Arch Neurol. 2008 Aug; 65 (8):1074-80
View PubMed
Vilarino-Guell C, Soto AI, Young JE, Lin SC, Uitti RJ, Wszolek ZK, Farrer MJ. Susceptibility genes for restless legs syndrome are not associated with Parkinson disease. Neurology. 2008 Jul 15; 71 (3):222-3
View PubMed
Fujishiro H, Ferman TJ, Boeve BF, Smith GE, Graff-Radford NR, Uitti RJ, Wszolek ZK, Knopman DS, Petersen RC, Parisi JE, Dickson DW. Validation of the neuropathologic criteria of the third consortium for dementia with Lewy bodies for prospectively diagnosed cases. J Neuropathol Exp Neurol. 2008 Jul; 67 (7):649-56
View PubMed
Markopoulou K, Dickson DW, McComb RD, Wszolek ZK, Katechalidou L, Avery L, Stansbury MS, Chase BA. Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease. Variability in familial Parkinson's disease. Acta Neuropathol. 2008 Jul; 116(1):25-35. Epub 2008 Apr 04.
View PubMed
Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, Brice A, Aasly J, Zabetian CP, Goldwurm S, Ferreira JJ, Tolosa E, Kay DM, Klein C, Williams DR, Marras C, Lang AE, Wszolek ZK, Berciano J, Schapira AH, Lynch T, Bhatia KP, Gasser T, Lees AJ, Wood NW, International LRRK2 Consortium. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol. 2008 Jul; 7(7):583-90. Epub 2008 Jun 06.
View PubMed
Wider C, Uitti RJ, Wszolek ZK, Fang JY, Josephs KA, Baker MC, Rademakers R, Hutton ML, Dickson DW. Progranulin gene mutation with an unusual clinical and neuropathologic presentation. Mov Disord. 2008 Jun 15; 23 (8):1168-73
View PubMed
Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson JM, Tan EK, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, Van Broeckhoven C, Farrer MJ, Wszolek ZK. Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. Neurology. 2008 Apr 15; 70 (16 Pt 2):1456-60 Epub 2008 Mar 12
View PubMed
Wider C, Melquist S, Hauf M, Solida A, Cobb SA, Kachergus JM, Gass J, Coon KD, Baker M, Cannon A, Stephan DA, Schorderet DF, Ghika J, Burkhard PR, Kapatos G, Hutton M, Farrer MJ, Wszolek ZK, Vingerhoets FJ. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology. 2008 Apr 15; 70 (16 Pt 2):1377-83 Epub 2007 Sept 05
View PubMed
Imamura A, Geda YE, Slowinski J, Wszolek ZK, Brown LA, Uitti RJ. Medications used to treat Parkinson's disease and the risk of gambling. Eur J Neurol. 2008 Apr; 15 (4):350-4 Epub 2008 Feb 26
View PubMed
Tsuboi Y, Dickson DW, Nabeshima K, Schmeichel AM, Wszolek ZK, Yamada T, Benarroch EE. Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol. 2008 Feb; 115(2):263-8. Epub 2007 Jun 19.
View PubMed
Wider C, Wszolek ZK. Etiology and pathophysiology of frontotemporal dementia, Parkinson disease and Alzheimer disease: lessons from genetic studies. Neurodegener Dis. 2008; 5 (3-4):122-5 Epub 2008 Mar 06
View PubMed
Slowinski J, Imamura A, Uitti RJ, Pooley RA, Strongosky AJ, Dickson DW, Broderick DF, Wszolek ZK. MR imaging of brainstem atrophy in progressive supranuclear palsy. J Neurol. 2008 Jan; 255 (1):37-44 Epub 2007 Dec 19
View PubMed
Wider C, Wszolek ZK. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. Parkinsonism Relat Disord. 2008; 14(1):1-7. Epub 2007 Sep 17.
View PubMed
Boeve BF, Silber MH, Saper CB, Ferman TJ, Dickson DW, Parisi JE, Benarroch EE, Ahlskog JE, Smith GE, Caselli RC, Tippman-Peikert M, Olson EJ, Lin SC, Young T, Wszolek Z, Schenck CH, Mahowald MW, Castillo PR, Del Tredici K, Braak H. Pathophysiology of REM sleep behaviour disorder and relevance to neurodegenerative disease. Brain. 2007 Nov; 130(Pt 11):2770-88. Epub 2007 Apr 05.
View PubMed
Ross OA, Haugarvoll K, Stone JT, Heckman MG, White LR, Aasly JO, Mark Gibson J, Lynch T, Wszolek ZK, Uitti RJ, Farrer MJ. Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease. Parkinsonism Relat Disord. 2007 Oct; 13 (7):386-8 Epub 2007 Apr 02
View PubMed
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative. Lancet Neurol. 2007 Oct; 6 (10):857-68
View PubMed
Miklossy J, Qing H, Guo JP, Yu S, Wszolek ZK, Calne D, McGeer EG, McGeer PL. Lrrk2 and chronic inflammation are linked to pallido-ponto-nigral degeneration caused by the N279K tau mutation. Acta Neuropathol (Berl). 2007 Sep; 114: (3)243-54.
View PubMed
Bogaerts V, Engelborghs S, Kumar-Singh S, Goossens D, Pickut B, van der Zee J, Sleegers K, Peeters K, Martin JJ, Del-Favero J, Gasser T, Dickson DW, Wszolek ZK, De Deyn PP, Theuns J, Van Broeckhoven C. A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder. Brain. 2007 Sep; 130(Pt 9):2277-91. Epub 2007 Aug 06.
View PubMed
Haugarvoll K, Wszolek ZK, Hutton M. The genetics of frontotemporal dementia. Neurol Clin. 2007 Aug; 25 (3):697-715, vi
View PubMed
Whaley NR, Putzke JD, Baba Y, Wszolek ZK, Uitti RJ. Essential tremor: Phenotypic expression in a clinical cohort. Parkinsonism Relat Disord. 2007 Aug; 13(6):333-9. Epub 2007 Feb 08.
View PubMed
Melrose HL, Kent CB, Taylor JP, Dachsel JC, Hinkle KM, Lincoln SJ, Mok SS, Culvenor JG, Masters CL, Tyndall GM, Bass DI, Ahmed Z, Andorfer CA, Ross OA, Wszolek ZK, Delldonne A, Dickson DW, Farrer MJ. A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease. Neuroscience. 2007 Jul 29; 147(4):1047-58. Epub 2007 Jul 03.
View PubMed
Baba Y, Baker MC, Le Ber I, Brice A, Maeck L, Kohlhase J, Yasuda M, Stoppe G, Bugiani O, Sperfeld AD, Tsuboi Y, Uitti RJ, Farrer MJ, Ghetti B, Hutton ML, Wszolek ZK. Clinical and genetic features of families with frontotemporal dementia and parkinsonism linked to chromosome 17 with a P301S tau mutation. J Neural Transm (Vienna). 2007 Jul; 114 (7):947-50 Epub 2007 Feb 23
View PubMed
Arvanitakis Z, Witte RJ, Dickson DW, Tsuboi Y, Uitti RJ, Slowinski J, Hutton ML, Lin SC, Boeve BF, Cheshire WP, Pooley RA, Liss JM, Caviness JN, Strongosky AJ, Wszolek ZK. Clinical-pathologic study of biomarkers in FTDP-17 (PPND family with N279K tau mutation). Parkinsonism Relat Disord. 2007 May; 13 (4):230-9 Epub 2006 Dec 29
View PubMed
Berger Z, Roder H, Hanna A, Carlson A, Rangachari V, Yue M, Wszolek Z, Ashe K, Knight J, Dickson D, Andorfer C, Rosenberry TL, Lewis J, Hutton M, Janus C. Accumulation of pathological tau species and memory loss in a conditional model of tauopathy. J Neurosci. 2007 Apr 4; 27 (14):3650-62
View PubMed
Taylor JP, Hulihan MM, Kachergus JM, Melrose HL, Lincoln SJ, Hinkle KM, Stone JT, Ross OA, Hauser R, Aasly J, Gasser T, Payami H, Wszolek ZK, Farrer MJ. Leucine-rich repeat kinase 1: a paralog of LRRK2 and a candidate gene for Parkinson's disease. Neurogenetics. 2007 Apr; 8(2):95-102. Epub 2007 Jan 16.
View PubMed
Baba Y, Uitti RJ, Boylan KB, Uehara Y, Yamada T, Farrer MJ, Couchon E, Batish SD, Wszolek ZK. Aprataxin (APTX) gene mutations resembling multiple system atrophy. Parkinsonism Relat Disord. 2007 Apr; 13(3):139-42. Epub 2006 Oct 27.
View PubMed
Melquist S, Craig DW, Huentelman MJ, Crook R, Pearson JV, Baker M, Zismann VL, Gass J, Adamson J, Szelinger S, Corneveaux J, Cannon A, Coon KD, Lincoln S, Adler C, Tuite P, Calne DB, Bigio EH, Uitti RJ, Wszolek ZK, Golbe LI, Caselli RJ, Graff-Radford N, Litvan I, Farrer MJ, Dickson DW, Hutton M, Stephan DA. Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. Am J Hum Genet. 2007 Apr; 80 (4):769-78 Epub 2007 Mar 08
View PubMed
Haugarvoll K, Toft M, Ross OA, Stone JT, Heckman MG, White LR, Lynch T, Gibson JM, Wszolek ZK, Uitti RJ, Aasly JO, Farrer MJ. ELAVL4, PARK10, and the Celts. Mov Disord. 2007 Mar 15; 22 (4):585-7
View PubMed
Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, Growdon JH, Gwinn-Hardy KA, Hardy J, Heutink P, Iwatsubo T, Kosaka K, Lee VM, Leverenz JB, Masliah E, McKeith IG, Nussbaum RL, Olanow CW, Ravina BM, Singleton AB, Tanner CM, Trojanowski JQ, Wszolek ZK, DLB/PDD Working Group. DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers. Neurology. 2007 Mar 13; 68(11):812-9.
View PubMed
Whittle AJ, Ross OA, Naini A, Gordon P, Mistumoto H, Dachsel JC, Stone JT, Wszolek ZK, Farrer MJ, Przedborski S. Pathogenic Lrrk2 substitutions and Amyotrophic lateral sclerosis. J Neural Transm (Vienna). 2007 Mar; 114 (3):327-9 Epub 2006 July 25
View PubMed
Frank AR, Wszolek ZK, Jack CR Jr, Boeve BF. Distinctive MRI findings in pallidopontonigral degeneration (PPND). Neurology. 2007 Feb 20; 68(8):620-1.
View PubMed
Slowinski J, Dominik J, Uitti RJ, Ahmed Z, Dickson DD, Wszolek ZK. Frontotemporal dementia and Parkinsonism linked to chromosome 17 with the N279K tau mutation. Neuropathology. 2007 Feb; 27 (1):73-80
View PubMed
Wider C, Wszolek ZK. Clinical genetics of Parkinson's disease and related disorders. Parkinsonism Relat Disord. 2007; 13 Suppl 3:S229-32
View PubMed
Chabolla DR, Wszolek ZK. Pharmacologic management of seizures in organ transplant. Neurology. 2006 Dec 26; 67 (12 Suppl 4):S34-8
View PubMed
Ferman TJ, Smith GE, Boeve BF, Graff-Radford NR, Lucas JA, Knopman DS, Petersen RC, Ivnik RJ, Wszolek Z, Uitti R, Dickson DW. Neuropsychological differentiation of dementia with Lewy bodies from normal aging and Alzheimer's disease. Clin Neuropsychol. 2006 Dec; 20 (4):623-36
View PubMed
Imamura A, Uitti RJ, Wszolek ZK. Dopamine agonist therapy for Parkinson disease and pathological gambling. Parkinsonism Relat Disord. 2006 Dec; 12(8):506-8. Epub 2006 May 24.
View PubMed
Putzke JD, Whaley NR, Baba Y, Wszolek ZK, Uitti RJ. Essential tremor: predictors of disease progression in a clinical cohort. J Neurol Neurosurg Psychiatry. 2006 Nov; 77 (11):1235-7
View PubMed
Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet. 2006 Oct 15; 15 (20):2988-3001 Epub 2006 Sept 01
View PubMed
Baba Y, Putzke JD, Tsuboi Y, Josephs KA, Thomas N, Wszolek ZK, Dickson DW. Effect of MAPT and APOE on prognosis of progressive supranuclear palsy. Neurosci Lett. 2006 Sep 11; 405(1-2):116-9. Epub 2006 Jul 12.
View PubMed
Brodkin CL, Wszolek ZK. Neurologic presentation of Erdheim-Chester disease. Neurol Neurochir Pol. 2006 Sep-Oct; 40(5):397-403.
View PubMed
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Durr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F. Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations. Arch Neurol. 2006 Sep; 63(9):1250-4.
View PubMed
Wszolek ZK, Baba Y, Mackenzie IR, Uitti RJ, Strongosky AJ, Broderick DF, Baker MC, Melquist S, Hutton ML, Tsuboi Y, Allanson JE, Carr J, Kumar A, Calne SM, Miklossy J, McGeer PL, Calne DB, Stoessl AJ. Autosomal dominant dystonia-plus with cerebral calcifications. Neurology. 2006 Aug 22; 67(4):620-5.
View PubMed
Wszolek ZK, Tsuboi Y, Ghetti B, Pickering-Brown S, Baba Y, Cheshire WP. Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). Orphanet J Rare Dis. 2006 Aug 9; 1:30 Epub 2006 Aug 09
View PubMed
Shiarli AM, Jennings R, Shi J, Bailey K, Davidson Y, Tian J, Bigio EH, Ghetti B, Murrell JR, Delisle MB, Mirra S, Crain B, Zolo P, Arima K, Iseki E, Murayama S, Kretzschmar H, Neumann M, Lippa C, Halliday G, Mackenzie J, Khan N, Ravid R, Dickson D, Wszolek Z, Iwatsubo T, Pickering-Brown SM, Mann DM. Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease. Neuropathol Appl Neurobiol. 2006 Aug; 32(4):374-87.
View PubMed
Liss JM, Krein-Jones K, Wszolek ZK, Caviness JN. Speech characteristics of patients with pallido-ponto-nigral degeneration and their application to presymptomatic detection in at-risk relatives. Am J Speech Lang Pathol. 2006 Aug; 15(3):226-35.
View PubMed
Haugarvoll K, Wszolek ZK. PARK8 LRRK2 parkinsonism. Curr Neurol Neurosci Rep. 2006 Jul; 6(4):287-94.
View PubMed
Farrer MJ, Haugarvoll K, Ross OA, Stone JT, Milkovic NM, Cobb SA, Whittle AJ, Lincoln SJ, Hulihan MM, Heckman MG, White LR, Aasly JO, Gibson JM, Gosal D, Lynch T, Wszolek ZK, Uitti RJ, Toft M. Genomewide association, Parkinson disease, and PARK10. Am J Hum Genet 2006 Jun; 78 (6):1084-8; author reply 1092-4
View PubMed
Baba Y, Putzke JD, Whaley NR, Wszolek ZK, Uitti RJ. Progressive supranuclear palsy: phenotypic sex differences in a clinical cohort. Mov Disord. 2006 May; 21(5):689-92.
View PubMed
Hirano S, Shinotoh H, Kobayashi T, Tsuboi Y, Wszolek ZK, Aotsuka A, Tanaka N, Ota T, Fukushi K, Tanada S, Irie T. Brain acetylcholinesterase activity in FTDP-17 studied by PET. Neurology. 2006 Apr 25; 66(8):1276-7.
View PubMed
de Silva R, Lashley T, Strand C, Shiarli AM, Shi J, Tian J, Bailey KL, Davies P, Bigio EH, Arima K, Iseki E, Murayama S, Kretzschmar H, Neumann M, Lippa C, Halliday G, MacKenzie J, Ravid R, Dickson D, Wszolek Z, Iwatsubo T, Pickering-Brown SM, Holton J, Lees A, Revesz T, Mann DM. An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies. Acta Neuropathol. 2006 Apr; 111(4):329-40. Epub 2006 Mar 22.
View PubMed
Baba Y, Markopoulou K, Putzke JD, Whaley NR, Farrer MJ, Wszolek ZK, Uitti RJ. Phenotypic commonalities in familial and sporadic Parkinson disease. Arch Neurol. 2006 Apr; 63(4):579-83.
View PubMed
Baba Y, Ghetti B, Baker MC, Uitti RJ, Hutton ML, Yamaguchi K, Bird T, Lin W, DeLucia MW, Dickson DW, Wszolek ZK. Hereditary diffuse leukoencephalopathy with spheroids: clinical, pathologic and genetic studies of a new kindred. Acta Neuropathol. 2006 Apr; 111: (4)300-11.
View PubMed
Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohe CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V, Italian Parkinson's Genetics Network. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet. 2006 Mar; 14(3):322-31.
View PubMed
Boeve BF, Lin SC, Strongosky A, Dickson DW, Wszolek ZK. Absence of rapid eye movement sleep behavior disorder in 11 members of the pallidopontonigral degeneration kindred. Arch Neurol. 2006 Feb; 63(2):268-72.
View PubMed
Ross OA, Toft M, Whittle AJ, Johnson JL, Papapetropoulos S, Mash DC, Litvan I, Gordon MF, Wszolek ZK, Farrer MJ, Dickson DW. Lrrk2 and Lewy body disease. Ann Neurol. 2006 Feb; 59 (2):388-93
View PubMed
Slowinski J, Wszolek ZK. Report on World Parkinson Congress. [Polish]. Neurol Neurochir Pol. 2006; 40(3):258-9.
Uitti RJ, Wszolek ZK. Concerning neuroprotective therapy for Parkinson's disease. J Neural Transm Suppl. 2006; (70):433-7
View PubMed
Whaley NR, Uitti RJ, Dickson DW, Farrer MJ, Wszolek ZK. Clinical and pathologic features of families with LRRK2-associated Parkinson's disease. J Neural Transm Suppl. 2006; (70):221-9
View PubMed
Klodowska-Duda G, Slowinski J, Opala G, Gorzkowska A, Jasinska-Myga B, Wszolek ZK, Dickson DW. Corticobasal degeneration -- clinico-pathological considerations. Folia Neuropathol. 2006; 44(4):257-64.
View PubMed
Mata IF, Bodkin CL, Adler CH, Lin SC, Uitti RJ, Farrer MJ, Wszolek ZK. Genetics of restless legs syndrome. Parkinsonism Relat Disord. 2006 Jan; 12(1):1-7.
View PubMed
Adams JR, van Netten H, Schulzer M, Mak E, Mckenzie J, Strongosky A, Sossi V, Ruth TJ, Lee CS, Farrer M, Gasser T, Uitti RJ, Calne DB, Wszolek ZK, Stoessl AJ. PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation. Brain. 2005 Dec; 128(Pt 12):2777-85. Epub 2005 Aug 04.
View PubMed
Baba Y, Kuroiwa A, Uitti RJ, Wszolek ZK, Yamada T. Alterations of T-lymphocyte populations in Parkinson disease. Parkinsonism Relat Disord. 2005 Dec; 11(8):493-8. Epub 2005 Sep 09.
View PubMed
Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ. Lrrk2 pathogenic substitutions in Parkinson's disease. Neurogenetics. 2005 Dec; 6(4):171-7. Epub 2005 Sep 17.
View PubMed
Krygowska-Wajs A, Kachergus JM, Hulihan MM, Farrer MJ, Searcy JA, Booij J, Berendse HW, Wolters ECh, Wszolek ZK. Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism. J Neural Transm. 2005 Nov; 112(11):1487-502. Epub 2005 Mar 23.
View PubMed
Baba Y, Putzke JD, Whaley NR, Wszolek ZK, Uitti RJ. Gender and the Parkinson's disease phenotype. J Neurol. 2005 Oct; 252 (10):1201-5 Epub 2005 Sept 12
View PubMed
Baba Y, Hentschel K, Freeman WD, Broderick DF, Wszolek ZK. Large paraspinal and iliopsoas muscle hematomas. Archives of Neurology. 2005 Aug; 62(8):1306.
View PubMed
Strauss KM, Martins LM, Plun-Favreau H, Marx FP, Kautzmann S, Berg D, Gasser T, Wszolek Z, Muller T, Bornemann A, Wolburg H, Downward J, Riess O, Schulz JB, Kruger R. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet. 2005 Aug 1; 14(15):2099-111.
View PubMed
Uitti RJ, Baba Y, Whaley NR, Wszolek ZK, Putzke JD. Parkinson disease: handedness predicts asymmetry. Neurology. 2005 Jun 14; 64 (11):1925-30
View PubMed
Baba Y, Tsuboi Y, Baker MC, Uitti RJ, Hutton ML, Dickson DW, Farrer M, Putzke JD, Woodruff BK, Ghetti B, Murrell JR, Boeve BF, Petersen RC, Verpillat P, Brice A, Delisle MB, Rascol O, Arima K, Dysken MW, Yasuda M, Kobayashi T, Sunohara N, Komure O, Kuno S, Sperfeld AD, Stoppe G, Kohlhase J, Pickering-Brown S, Neary D, Bugiani O, Wszolek ZK. The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord. 2005 Jun; 11(4):205-8.
View PubMed
Miklossy J, Mackenzie IR, Dorovini-Zis K, Calne DB, Wszolek ZK, Klegeris A, McGeer PL. Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol (Berl). 2005 Jun; 109: (6)643-53.
View PubMed
Uitti RJ, Baba Y, Wszolek ZK, Putzke DJ. Defining the Parkinson's disease phenotype: initial symptoms and baseline characteristics in a clinical cohort. Parkinsonism Relat Disord. 2005 May; 11(3):139-45.
View PubMed
Baba Y, Uitti RJ, Farrer MJ, Wszolek ZK. Sporadic SCA8 mutation resembling corticobasal degeneration. Parkinsonism Relat Disord. 2005 May; 11 (3):147-50
View PubMed
Baba Y, Broderick DF, Uitti RJ, Hutton ML, Wszolek ZK. Heredofamilial brain calcinosis syndrome. Mayo Clin Proc. 2005 May; 80: (5)641-51.
View PubMed
Putzke JD, Uitti RJ, Obwegeser AA, Wszolek ZK, Wharen RE. Bilateral thalamic deep brain stimulation: midline tremor control. J Neurol Neurosurg Psychiatry. 2005 May; 76 (5):684-90
View PubMed
Josephs KA, Uchikado H, McComb RD, Bashir R, Wszolek Z, Swanson J, Matsumoto J, Shaw G, Dickson DW. Extending the clinicopathological spectrum of neurofilament inclusion disease. Acta Neuropathol (Berl). 2005 Apr; 109: (4)427-32.
View PubMed
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am J Hum Genet. 2005 Apr; 76(4):672-80. Epub 2005 Feb 22.
View PubMed
Eriksen JL, Wszolek Z, Petrucelli L. Molecular pathogenesis of Parkinson disease. Arch Neurol. 2005 Mar; 62(3):353-7.
View PubMed
Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ. Parkinsonism, FXTAS, and FMR1 premutations. Mov Disord. 2005 Feb; 20(2):230-3.
View PubMed
Berg D, Schweitzer KJ, Leitner P, Zimprich A, Lichtner P, Belcredi P, Brüssel T, Schulte C, Maass S, Nägele T, Wszolek ZK, Gasser T. Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease. Brain. 2005; 128:3000-3011.
View PubMed
Wszolek ZK, Slowinski J, Golan M, Dickson DW. Frontotemporal dementia and parkinsonism linked to chromosome 17. Folia Neuropathol. 2005; 43: (4)258-70.
View PubMed
Cheshire WP, Wszolek ZK. Body mass index is reduced early in Parkinson's Disease. Parkinsonism & Related Disorders. 2005 Jan; 11(1):35-8.
View PubMed
Oliveira JRM, Spiteri E, Sobrido MJ, Hopfer S, Klepper J, Voit T, Gilbert J, Wszolek ZK, Calne DB, Stoessl AJ, Hutton M, Manyam BV, Boller F, Baquero M, Geschwind DH. Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology. 2004 Dec 14; 63(11):2165-7.
View PubMed
Uitti RJ, Calne DB, Dickson DW, Wszolek ZK. Is the neuropathological 'gold standard' diagnosis dead? Implications of clinicopathological findings in an autosomal dominant neurodegenerative disorder. Parkinsonism Relat Disord. 2004 Dec; 10(8):461-3.
View PubMed
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron. 2004 Nov 18; 44(4):601-7.
View PubMed
Putzke JD, Wharen RE Jr, Obwegeser AA, Wszolek ZK, Lucas JA, Turk MF, Uitti RJ. Thalamic deep brain stimulation for essential tremor: recommendations for long-term outcome analysis. Can J Neurol Sci. 2004 Aug; 31 (3):333-42
View PubMed
Woodruff BK, Baba Y, Hutton ML, Wszolek ZK, Tsuboi Y, Kobayashi T, Ghetti B, Arima K, Yasuda M, Rascol O. Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene. Arch Neurol. 2004 Aug; 61(8):1327.
View PubMed
Kumar A, Calne SM, Schulzer M, Mak E, Wszolek Z, Van Netten C, Tsui JKC, Stoessl AJ, Calne DB. Clustering of Parkinson disease - Shared cause or coincidence? Arch Neurol. 2004 Jul; 61(7):1057-60.
View PubMed
Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Femandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, Calne DB, Wszolek ZK, Farrer M, Gwinn-Hardy K, Stoessl AJ. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord. 2004 Jun; 19(6):622-9.
View PubMed
Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Muller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW. Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology. 2004 May 11; 62 (9):1619-22
View PubMed
Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, Hulihan M, Maraganore D, Gwinn-Hardy K, Wszolek Z, Dickson D, Langston JW. Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol. 2004 Feb; 55(2):174-9.
View PubMed
Zimprich A, Muller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M, Lockhart P, Strongosky A, Kachergus J, Calne DB, Stoessl J, Uitti RJ, Pfeiffer RF, Trenkwalder C, Homann N, Ott E, Wenzel K, Asmus F, Hardy J, Wszolek Z, Gasser T. The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. Am J Hum Genet. 2004 Jan; 74(1):11-9. Epub 2003 Dec 19.
View PubMed
Putzke JD, Wharen RE Jr, Wszolek ZK, Turk MF, Strongosky AJ, Uitti RJ. Thalamic deep brain stimulation for tremor-predominant Parkinson's disease. Parkinsonism Relat Disord. 2003 Dec; 10 (2):81-8
View PubMed
Furtado S, Pfeiffer RF, Uitti RJ, Wszolek ZK. Neurotherapeutics and movement disorders. World Federation of Neurology. 2003 Nov 9.
Tsuboi Y, Wszolek ZK, Graff-Radford NR, Cookson N, Dickson DW. Tau pathology in the olfactory bulb correlates with Braak stage, Lewy body pathology and apolipoprotein epsilon4. Neuropathol Appl Neurobiol. 2003 Oct; 29 (5):503-10
View PubMed
Tsuboi Y, Slowinski J, Josephs KA, Honer WG, Wszolek ZK, Dickson DW. Atrophy of superior cerebellar peduncle in progressive supranuclear palsy. Neurology. 2003 Jun 10; 60(11):1766-9.
View PubMed
Ferman TJ, McRae CA, Arvanitakis Z, Tsuboi Y, Vo A, Wszolek ZK. Early and pre-symptomatic neuropsychological dysfunction in the PPND family with the N279K tau mutation. Parkinsonism Relat Disord. 2003 Jun; 9 (5):265-70
View PubMed
Slowinski J, Wharen RE, Uitti RJ, Wszolek ZK, Krygowska-Wajs A, Mrowka R. [Current therapies for parkinson's disease. Part II: surgical treatment]. Neurol Neurochir Pol. 2003 May-Jun; 37(3):677-86.
View PubMed
Krygowska-Wajs A, Wszolek ZK, Uitti RJ, Slowinski J, Szczudlik A. [The current therapies for parkinson's disease. Part I: pharmacological treatment]. Neurol Neurochir Pol. 2003 May-Jun; 37(3):665-76.
View PubMed
Krygowska-Wajs A, Hussey JM, Hulihan M, Farrer MJ, Tsuboi Y, Uitti RJ, Wszolek ZK. Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci. Parkinsonism Relat Disord. 2003 Mar; 9(4):193-200.
View PubMed
Tsuboi Y, Wszolek ZK, Mizuno Y, Kobayashi T, Yasuda M, Yamada T. Japanese contribution to the understanding of frontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP-17). Brain & Nerve (Tokyo). 2003 Feb; 55: (2)107-19.
View PubMed
Kobayashi H, Kruger R, Markopoulou K, Wszolek Z, Chase B, Taka H, Mineki R, Murayama K, Riess O, Mizuno Y, Hattori N. Haploinsufficiency at the alpha-synuclein gene underlies phenotypic severity in familial Parkinson's disease. Brain. 2003 Jan; 126(Part 1):32-42.
View PubMed
Caviness JN, Tsuboi Y, Wszolek ZK. Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation. Parkinsonism Relat Disord. 2003 Jan; 9 (3):151-7
View PubMed
Uitti RJ, Wszolek ZK. Dopamine agonists, sleep disorders, and driving in Parkinson's disease. Adv Neurol. 2003; 91:343-9.
View PubMed
Wszolek ZK, Krygowska-Wajs A, Barcikowska M. [Fronto-temporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): clinical criteria]. Neurol Neurochir Pol. 2003 Jan-Feb; 37: (1)173-84.
View PubMed
Wszolek ZK, Tsuboi Y, Farrer M, Uitti RJ, Hutton ML. Hereditary tauopathies and parkinsonism. Adv Neurol. 2003; 91:153-63.
View PubMed
Tsuboi Y, Baker M, Hutton ML, Uitti RJ, Rascol O, Delisle MB, Soulages X, Murrell JR, Ghetti B, Yasuda M, Komure O, Kuno S, Arima K, Sunohara N, Kobayashi T, Mizuno Y, Wszolek ZK. Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology. 2002 Dec 10; 59 (11):1791-3
View PubMed
Uitti RJ, Tsuboi Y, Pooley RA, Putzke JD, Turk MF, Wszolek ZK, Witte RJ, Wharen RE. Magnetic resonance imaging and deep brain stimulation. Neurosurgery. 2002 Dec; 51(6):1423-8.
View PubMed
Cheshire WP, Tsuboi Y, Wszolek ZK. Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17. Auton Neurosci. 2002 Nov 29; 102 (1-2):71-7
View PubMed
Furtado S, Farrer M, Tsuboi Y, Klimek ML, de la Fuente-Fernandez R, Hussey J, Lockhart P, Calne DB, Suchowersky O, Stoessl AJ, Wszolek ZK. SCA-2 presenting as parkinsonism in an Alberta family - Clinical, genetic, and PET findings. Neurology. 2002 Nov 26; 59(10):1625-7.
View PubMed
Hussey J, Lockhart PJ, Seltzer W, Wszolek ZK, Payami H, Hanson M, Gwinn-Hardy K, Farrer M. Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats. Genet Test. 2002 Fall; 6(3):217-20.
View PubMed
Tsuboi Y, Uitti RJ, Delisle MB, Ferreira JJ, Brefel-Courbon C, Rascol O, Ghetti B, Murrell JR, Hutton M, Baker M, Wszolek ZK. Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. Arch Neurol. 2002 Jun; 59 (6):943-50
View PubMed
Tsuboi Y, Wszolek ZK, Kusuhara T, Doh-ura K, Yamada T. Japanese family with parkinsonism, depression, weight loss, and central hypoventilation. Neurology. 2002 Apr 9; 58 (7):1025-30
View PubMed
Wszolek ZK, Gwinn-Hardy K, Wszolek EK, Muenter MD, Pfeiffer RF, Rodnitzky RL, Uitti RJ, McComb RD, Gasser T, Dickson DW. Neuropathology of two members of a German-American kindred (Family C) with late onset parkinsonism. Acta Neuropathol. 2002 Apr; 103(4):344-50. Epub 2001 Dec 08.
View PubMed
Lockhart PJ, Holtom B, Lincoln S, Hussey J, Zimprich A, Gasser T, Wszolek ZK, Hardy J, Farrer MJ. The human sideroflexin 5 (SFXN5) gene: sequence, expression analysis and exclusion as a candidate for PARK3. Gene. 2002 Feb 20; 285(1-2):229-37.
View PubMed
Farrer M, Hardy J, Hutton M, Maraganore D, Tsuboi Y, Wszolek ZK. Identifying genetic factors in Parkinson disease. JAMA. 2002 Feb 13; 287(6):715.
View PubMed
Pal PK, Wszolek ZK, Uitti R, Markopoulou K, Calne SM, Stoessl AJ, Calne DB. Positron emission tomography of dopamine pathways in familial Parkinsonian syndromes. Parkinsonism Relat Disord. 2001 Sep; 8(1):51-6.
View PubMed
West AB, Zimprich A, Lockhart PJ, Farrer M, Singleton A, Holtom B, Lincoln S, Hofer A, Hill L, Müller-Myhsok B, Wszolek ZK, Hardy J, Gasser T. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur J Hum Genet. 2001 Sep; 9(9):659-66.
View PubMed
Arvanitakis Z, Wszolek ZK. Recent advances in the understanding of tau protein and movement disorders. Curr Opin Neurol. 2001 Aug; 14 (4):491-7
View PubMed
Wszolek ZK, Kardon RH, Wolters EC, Pfeiffer RF. Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17): PPND family. A longitudinal videotape demonstration. Mov Disord. 2001 Jul; 16 (4):756-60
View PubMed
Wszolek ZK, Chabolla DR, Rubino FA. Nonconvulsive status epilepticus in a patient with mental status changes. Am J Electroneurodiagn Technol. 2001 Jun; 41(2):136-141.
Pal PK, Wszolek ZK, Kishore A, de la Fuente-Fernandez R, Sossi V, Uitti RJ, Dobko T, Stoessl AJ. Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene). Parkinsonism Relat Disord. 2001 Apr; 7(2):81-8.
View PubMed
McRae CA, Diem G, Yamazaki TG, Mitek A, Wszolek ZK. Interest in genetic testing in pallido-ponto-nigral degeneration (PPND): a family with frontotemporal dementia with Parkinsonism linked to chromosome 17. Eur J Neurol. 2001 Mar; 8(2):179-83.
View PubMed
Reed LA, Wszolek ZK, Hutton M. Phenotypic correlations in FTDP-17. Neurobiol Aging. 2001 Jan-Feb; 22(1):89-107.
View PubMed
Wszolek ZK, Uitti RJ, Markopoulou K. Familial Parkinson's disease and related conditions - Clinical genetics. Adv Neurol. 2001; (86):33-43.
Zink M, Grim L, Wszolek ZK, Gasser T. Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha) (short communication). J Neural Transm. 2001; 108(8-9):1029-34.
View PubMed
Uitti RJ, Wharen RE, Duffy JR, Lucas JA, Schneider SL, Rippeth JD, Wszolek ZK, Obwegeser AA, Turk MF, Atkinson EJ. Unilateral pallidotomy for Parkinson's disease: speech, motor, and neuropsychological outcome measurements. Parkinsonism Relat Disord. 2000 Jul 1; 6 (3):133-143
View PubMed
Lynch HT, McComb RD, Osborn NK, Wolpert PA, Lynch JF, Wszolek ZK, Sidransky D, Steg RE. Predominance of brain tumors in an extended Li-Fraumeni (SBLA) kindred, including a case of Sturge-Weber syndrome. Cancer. 2000 Jan 15; 88(2):433-9.
View PubMed
Samii A, Markopoulou K, Wszolek ZK, Sossi V, Dobko T, Mak E, Calne DB, Stoessl AJ. PET studies of parkinsonism associated with mutation in the alpha-synuclein gene. Neurology. 1999 Dec 10; 53(9):2097-102.
View PubMed
Wszolek ZK, Markopoulou K. Molecular genetics of familial parkinsonism. Parkinsonism Relat Disord. 1999 Dec; 5 (4):145-55
View PubMed
Steg RE, Kessinger A, Wszolek ZK. Cortical blindness and seizures in a patient receiving FK506 after bone marrow transplantation. Bone Marrow Transplant. 1999 May; 23(9):959-62.
View PubMed
Uitti RJ, Wszolek ZK. Medical treatment of Parkinson's disease. Neurosci News. 1999; 2(3-4):36-43.
Wszolek ZK, Koller WC. Rare and unusual parkinsonian syndromes. Adv Neurol. 1999; 80:369-76.
View PubMed
Wszolek ZK, Uitti RJ. The clinical genetics of Parkinson's disease. Neurosci News. 1999; 2(3-4):66-72.
Markopoulou K, Wszolek ZK, Pfeiffer RF, Chase BA. Reduced expression of the G209A β-synuclein allele in familial parkinsonism. Ann Neurol. 1999; 46:374-81.
View PubMed
Hong M, Zhukareva V, Vogelsberg-Ragaglia V, Wszolek Z, Reed L, Miller BI, Geschwind DH, Bird TD, McKeel D, Goate A, Morris JC, Wilhelmsen KC, Schellenberg GD, Trojanowski JQ, Lee VM. Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17. Science. 1998 Dec 4; 282(5395):1914-7.
View PubMed
Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proc Natl Acad Sci U S A. 1998 Oct 27; 95(22):13103-7.
View PubMed
Wszolek ZK, Lagerlund TD, Steg RE, McManis PG. Clinical neurophysiologic findings in patients with rapidly progressive familial parkinsonism and dementia with pallido-ponto-nigral degeneration. Electroencephalography & Clinical Neurophysiology. 1998 Sep; 107(3):213-22.
View PubMed
Reed LA, Schmidt ML, Wszolek ZK, Balin BJ, Soontornniyomkij V, Lee VM, Trojanowski JQ, Schelper RL. The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration"). Journal of Neuropathology & Experimental Neurology. 1998 Jun; 57(6):588-601.
View PubMed
Vaughan JR, Farrer MJ, Wszolek ZK, Gasser T, Durr A, Agid Y, Bonifati V, Demichele G, Volpe G, Lincoln S, Breteler M, Meco G, Brice A, Marsden CD, Hardy J, Wood NW. Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD). Hum Mol Genet. 1998 Apr; 7(4):751-3.
View PubMed
Gasser T, Muller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P, Horstmann RD. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet. 1998 Mar; 18(3):262-5.
View PubMed
Wszolek ZK, Markopoulou K. Olfactory dysfunction in Parkinson's disease. Clin Neurosci. 1998; 5(2):94-101.
View PubMed
Markopoulou K, Larsen KW, Wszolek EK, Denson MA, Lang AE, Pfeiffer RF, Wszolek ZK. Olfactory dysfunction in familial parkinsonism. Neurology. 1997 Nov; 49(5):1262-7.
View PubMed
Wszolek ZK, Vieregge P, Uitti RJ, Gasser T, Yasuhara O, McGeer P, Berry K, Calne DB, Vingerhoets FJ, Klein C, Pfeiffer RF. German-Canadian family (family A) with parkinsonism, amyotrophy, and dementia - Longitudinal observations. Parkinsonism Relat Disord. 1997 Nov; 3(3):125-39.
View PubMed
Denson MA, Wszolek ZK, Pfeiffer RF, Wszolek EK, Paschall TM, McComb RD. Familial parkinsonism, dementia, and Lewy body disease: study of family G. Ann Neurol. 1997 Oct; 42(4):638-43.
View PubMed
Wszolek ZK, Steg RE, Armitage JO. Complex partial status epilepticus after bone marrow transplantation for non-Hodgkin's lymphoma. Bone Marrow Transplant. 1997 Mar; 19(6):637-8.
View PubMed
Wszolek ZK, Steg RE. Seizures after orthotopic liver transplantation. Seizure. 1997 Feb; 6(1):31-9.
View PubMed
Soria ED, Conrad DE, Wszolek ZK. The assessment of sleep disorders by polysomnography. Adv Clin Neurosci. 1997; 7:249-68.
Calne DB, Deutch A, Gasser T, Goldstein M, Guttman M, Mizumo Y, Yahr M, Wszolek Z. Genes and Parkinson's disease. Parkinson Network. 1997; 82:17-18.
Wszolek ZK, Lynch T, Wilhelmsen KC. Rapidly progressive autosomal dominant Parkinsonism and dementia with Pallido-Ponto-Nigral degeneration (PPND) and disinhibition- dementia- Parkinsonism-amyotrophy complex (DDPAC) are clinically distinct conditions that are both linked to 17Q21-22. Parkinsonism & Related Disorders. 1997; 3:67-76.
Foster NL, Wilhelmsen K, Sima AAF, Jones MZ, D'Amato JC, Gilman S, Wszolek Z, et al. Frontotemporal dementia and Parkinsonism linked to chromosome 17: a consensus conference. Ann Neurol. 1997; 41:706-715.
View PubMed
Kishore A, Wszolek ZK, Snow BJ, de la Fuente-Fernandez R, Arwert F, Wijker M, Schulzer M, Calne DB, Vingerhoets FJ. Presynaptic nigrostriatal function in genetically tested asymptomatic relatives from the pallido-ponto-nigral degeneration family. Neurology. 1996 Dec; 47(6):1588-90.
View PubMed
Edwards LL, Wszolek ZK, Normand MM. Neurophysiologic evaluation of cyclosporine toxicity associated with bone marrow transplantation. Acta Neurol Scand. 1996 Nov; 94(5):358-64.
View PubMed
Gasser T, Muller-Myhsok B, Supala A, Zimmer E, Wieditz G, Wszolek ZK, Vieregge P, Bonifati V, Oertel WH. The CYP2D6B allele is not overrepresented in a population of German patients with idiopathic Parkinson's disease. Journal of Neurology, Neurosurgery & Psychiatry. 1996 Nov; 61(5):518-20.
View PubMed
Wszolek ZK, McCashland TM, Witte RJ, Brandenberg GA, Steg RE. Spinal epidural abscess in a liver transplant recipient. Transplant Proc. 1996 Oct; 28(5):2978-9.
View PubMed
Chelimsky G, Wszolek Z, Chelimsky TC. Gastrointestinal dysfunction in autonomic neuropathy. Semin Neurol. 1996 Sep; 16(3):259-68.
View PubMed
Pavletic ZS, Bishop MR, Markopoulou K, Wszolek ZK. Drug-induced parkinsonism after allogeneic bone marrow transplantation. Bone Marrow Transplant. 1996 Jun; 17(6):1185-7.
View PubMed
Markopoulou K, Chase BA, Wszolek ZK. Molecular genetics and pathogenesis of neurodegenerative diseases. Adv Clin Neurosci. 1996; 6:217-33.
Ashraf W, Wszolek ZK, Pfeiffer RF, Quigley EMM, Normand M, Srb F, Maurer K. Anorectal function in fluctuating (on-off) Parkinson's disease: evaluation by combined anorectal manometry and electromyography. Parkinson's Disease/Alzheimer's Digest. 1996; 3:16-17.
Wszolek ZK, Peeiffer RF, Denson MA, McComb RD. Danish-American family (family E) with 'Parkinson's Disease': Pitfalls of genetic studies. Parkinsonism Relat Disord. 1996 Jan; 2(1):47-9.
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Steg RE, Wszolek ZK. Electroencephalographic abnormalities in liver transplant recipients: practical considerations and review. J Clin Neurophysiol. 1996 Jan; 13(1):60-8.
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Wijker M, Wszolek ZK, Wolters EC, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, Rodnitzky RL, Wilhelmsen KC, Arwert F. Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Hum Mol Genet. 1996 Jan; 5(1):151-4.
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Gasser T, Wszolek Z, Supala A, Trofatter J, Ozelius L, Uitti RJ, Pfeiffer RF, Gusella J, Calne D, Breakefield XO. Genetic linkage studies in autosomal dominantly inherited L-DOPA responsive parkinsonism. Evaluation of candidate genes. Adv Neurol. 1996; 69:87-95.
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Wszolek ZK, Steg RE. Seizures after liver transplantation. Liver Transplantation & Surgery. 1995 Sep; 1(5):334-9.
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Ashraf W, Wszolek ZK, Pfeiffer RF, Normand M, Maurer K, Srb F, Edwards LL, Quigley EM. Anorectal function in fluctuating (on-off) Parkinson's disease: evaluation by combined anorectal manometry and electromyography. Mov Disord. 1995 Sep; 10(5):650-7.
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Markopoulou K, Wszolek ZK, Pfeiffer RF. A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann Neurol. 1995 Sep; 38(3):373-8.
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Ellingson RJ, Wszolek ZK, Kendall JD, Donovan JP, Schafer DF. Brainstem auditory evoked potentials in liver transplant candidates. Nebr Med J. 1995 Jul; 80(7):167-70.
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Normand MM, Wszolek ZK, Klass DW. Temporal intermittent rhythmic delta activity in electroencephalograms. J Clin Neurophysiol. 1995 May; 12 (3):280-4
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Edwards LL, Normand MM, Wszolek ZK. Cervical dystonia: a review the role of botulinum toxin. Nebr Med J. 1995 May; 80(5):109-15.
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Wszolek ZK, Pfeiffer B, Fulgham JR, Parisi JE, Thompson BM, Uitti RJ, Calne DB, Pfeiffer RF. Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology. 1995 Mar; 45(3 Pt 1):502-5.
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Wszolek ZK, Groover RV, Klass DW. Seizures presenting as episodic hypersomnolence. Epilepsia. 1995 Jan; 36 (1):108-10
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Wilhelmsen KC, Wszolek ZK. Is there a genetic susceptibility to idiopathic Parkinsonism? Parkinsonism & Related Disorders. 1995; 1:73-84.
Denson MA, Wszolek ZK. Familial Parkinsonism: our experience and review. Parkinsonism & Related Disorders. 1995; 1:35-46.
Edwards LL, Wszolek ZK, Normand MM. Neurophysiologic evaluation of cyclosporine toxicity associated with bone marrow transplantation. Acta Neurol Scand. 1995; 92:423-9.
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Gasser T, Wszolek ZK, Trofatter J, Ozelius L, Uitti RJ, Lee CS, Gusella J, Pfeiffer RF, Calne DB, Breakefield XO. Genetic linkage studies in autosomal dominant parkinsonism: evaluation of seven candidate genes. Ann Neurol. 1994 Sep; 36(3):387-96.
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Wszolek ZK, Denson MD. Brain imaging sometimes helpful in Parkinson's disease evaluation. Focus on Parkinson's Disease Parkinson Awareness Center UNMC. 1994; 6:4-5.
Wszolek ZK, Cordes M, Calne DB, Munter MD, Cordes I, Pfeifer RF. [Hereditary Parkinson disease: report of 3 families with dominant autosomal inheritance]. [German]. Nervenarzt. 1993 May; 64(5):331-5.
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Yamada T, McGeer EG, Schelper RL, Wszolek ZK, McGeer PL, Pfeiffer RF, Rodnitzky RL. Histological and biochemical pathology in a family with autosomal dominant Parkinsonism and dementia. Neurology, Psychiatry, and Brain Research. 1993; 2:26-35.
Cordes M, Wszolek ZK, Pfeiffer RF, Calne DB. Examination of the presynaptic dopaminergic system using positron emission tomography in a family with autosomal dominant Parkinsonism and dementia due to Pallido-Ponto-Nigral degeneration (PPND). Radio diag. 1993; 34:141-145.
Wszolek ZK, Denson MD. Familial Parkinsonism studied at UNMC. Focus on Parkinson's Disease Parkinson Awareness Center UNMC. 1993; 5:4-5.
Wszolek ZK, et al. Rapidly progressive autosomal dominant Parkinsonism and dementia with Pallido-Ponto-Nigral degeneration. Focus on Parkinson's Disease. 1993; 5:65-66.
Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, Snow BJ, Rodnitzky RL, Wolters EC, Arwert F, Calne DB. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Ann Neurol. 1992 Sep; 32(3):312-20.
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Wszolek ZK, Pfeiffer RF. Genetic considerations in movement disorders. Current Opinion in Neurology & Neurosurgery. 1992 Jun; 5(3):324-30.
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Herkes GK, Wszolek ZK, Westmoreland BF, Klass DW. Effects of midazolam on electroencephalograms of seriously ill patients. Mayo Clin Proc. 1992 Apr; 67 (4):334-8
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Cordes M, Wszolek ZK, Calne DB, Rodnitzky RL, Pfeiffer RF. Magnetic resonance imaging studies in rapidly progressive autosomal dominant Parkinsonism and dementia with Pallido-Ponto-Nigral degeneration. Neurodegeneration. 1992; 1:217-24.
Wszolek ZK, Herkes GK, Lagerlund TD, Kokmen E. Comparison of EEG background frequency analysis, psychologic test scores, short test of mental status, and quantitative SPECT in dementia. J Geriatr Psychiatry Neurol. 1992 Jan-Mar; 5 (1):22-30
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Wszolek ZK, Aksamit AJ, Ellingson RJ, Sharbrough FW, Westmoreland BF, Pfeiffer RF, Steg RE, de Groen PC. Epileptiform electroencephalographic abnormalities in liver transplant recipients. Ann Neurol. 1991 Jul; 30(1):37-41.
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Steg RE, Lefkowitz DM, Wszolek Z, Jordan AA Jr. Optic nerve enlargement in acute optic neuritis. Nebr Med J. 1990 Oct; 75(10):284-7.
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Wszolek ZK, McComb RD, Pfeiffer RF, Steg RE, Wood RP, Shaw BW Jr, Markin RS. Pontine and extrapontine myelinolysis following liver transplantation. Relationship to serum sodium. Transplantation. 1989 Dec; 48(6):1006-12.
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Gasecki AP, Mawk JR, Hahn FJ, Wszolek ZK, McComb RD, Bennett DR. Neurocysticercosis: a case report. Nebr Med J. 1989 Sep; 74(9):275-9.
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Steg RE, Lefkowitz DM, Wszolek Z, Sison AS Jr, Hahn F. Clinical diagnostic imaging. Cerebral venous thrombosis. Nebr Med J. 1989 Feb; 74(2):37-41.
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Sullivan JM, Wszolek ZK, Lund G, Pfeiffer RF. Magnetic resonance imaging in thoracic outlet syndrome. Nebr Med J. 1988 Mar; 73(3):70-2.
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Wszolek Z, Monsour H, Smith P, Pfeiffer R. Cryptococcal meningoencephalitis with parkinsonian features. Mov Disord. 1988; 3(3):271-3.
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Wszolek ZK, Schima EJ, Phalen JJ. Arteriovenous malformation of the brain. Nebr Med J. 1987 Dec; 72(12):404-5.
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Wszolek Z. [Echoencephalographic studies in stroke]. [Polish]. Pol Tyg Lek. 1982 May 17; 37(12):337-8.
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Wszolek Z, Hawranek M. [Traumatic spinal cord syndromes of the cervical spine]. [Polish]. Chir Narzadow Ruchu Ortop Pol. 1982; 47(3):153-7.
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Wszolek Z, Hawranek M. [Echoencephalography in the diagnosis of craniocerebral injuries]. [Polish]. Pol Tyg Lek. 1980 Feb 11; 35(6):195-7.
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Gladych-Kielc I, Wszolek Z. [Case of narcolepsy with attacks of cataplexy, parahypnotic paralysis and hypnagogic hallucinations]. [Polish]. Wiad Lek. 1979 Dec 15; 32(24):1775-6.
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Glowacki B, Wszolek Z. [Case of hemiplegic migraine with atypical angiographic findings]. [Polish]. Neurol Neurochir Pol. 1978 Jul-Aug; 12(4):795-6.
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Zbigniew K. Wszolek, M.D.

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