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Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.
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. Wray S, et al. Among authors: wszolek zk. PLoS One. 2012;7(8):e43099. doi: 10.1371/journal.pone.0043099. Epub 2012 Aug 27. PLoS One. 2012. PMID: 22952635 Free PMC article.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
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; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; 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, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Among authors: wszolek zk. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
Perry Disease: Expanding the Genetic Basis.
Dulski J, Koga S, Liberski PP, Sitek EJ, Butala AA, Sławek J, Dickson DW, Wszolek ZK. Dulski J, et al. Among authors: wszolek zk. Mov Disord Clin Pract. 2023 Jun 22;10(7):1136-1142. doi: 10.1002/mdc3.13764. eCollection 2023 Jul. Mov Disord Clin Pract. 2023. PMID: 37476320
Substitution of PINK1 Gly411 modulates substrate receptivity and turnover.
Fiesel FC, Fričová 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. Fiesel FC, et al. Among authors: wszolek zk. Autophagy. 2023 Jun;19(6):1711-1732. doi: 10.1080/15548627.2022.2151294. Epub 2022 Dec 5. Autophagy. 2023. PMID: 36469690 Free PMC article.
First families with spinocerebellar ataxia type 7 in Poland.
Dulski J, Al-Shaikh RH, Prudencio M, Petrucelli L, Sulek A, Bernatowicz K, Sławek J, Wszolek ZK. Dulski J, et al. Among authors: wszolek zk. Neurol Neurochir Pol. 2023;57(3):310-313. doi: 10.5603/PJNNS.a2023.0037. Epub 2023 Jun 7. Neurol Neurochir Pol. 2023. PMID: 37283503 Free article.
Basal activity of PINK1 and PRKN in cell models and rodent brain.
Watzlawik JO, Fiesel FC, Fiorino G, Bustillos BA, Baninameh Z, Markham BN, Hou X, Hayes CS, Bredenberg JM, Kurchaba NW, Fričová D, Siuda J, Wszolek ZK, Noda S, Sato S, Hattori N, Prasad AA, Kirik D, Fox HS, Stauch KL, Goldberg MS, Springer W. Watzlawik JO, et al. Among authors: wszolek zk. Autophagy. 2024 May;20(5):1147-1158. doi: 10.1080/15548627.2023.2286414. Epub 2023 Dec 2. Autophagy. 2024. PMID: 38041584 Free PMC article.
643 results