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A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.
Sharma M, Ioannidis JP, 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, Vilariño-Güell 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, Krüger R; GEOPD consortium. Sharma M, et al. Among authors: farrer m. J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. J Med Genet. 2012. PMID: 23125461 Free PMC article.
Genetics of Parkinson's disease.
Lynch T, Farrer M, Hutton M, Hardy J. Lynch T, et al. Among authors: farrer m. Science. 1997 Nov 14;278(5341):1212-3. Science. 1997. PMID: 9411743 No abstract available.
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).
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. Vaughan JR, et al. Among authors: farrer mj. Hum Mol Genet. 1998 Apr;7(4):751-3. doi: 10.1093/hmg/7.4.751. Hum Mol Genet. 1998. PMID: 9499430
475 results