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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: tan ek. J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. J Med Genet. 2012. PMID: 23125461 Free PMC article.
Alpha-synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients.
Berg D, Niwar M, Maass S, Zimprich A, Möller JC, Wuellner U, Schmitz-Hübsch T, Klein C, Tan EK, Schöls L, Marsh L, Dawson TM, Janetzky B, Müller T, Woitalla D, Kostic V, Pramstaller PP, Oertel WH, Bauer P, Krueger R, Gasser T, Riess O. Berg D, et al. Among authors: tan ek. Mov Disord. 2005 Sep;20(9):1191-4. doi: 10.1002/mds.20504. Mov Disord. 2005. PMID: 15895422
Analysis of LRRK2 functional domains in nondominant Parkinson disease.
Skipper L, Shen H, Chua E, Bonnard C, Kolatkar P, Tan LC, Jamora RD, Puvan K, Puong KY, Zhao Y, Pavanni R, Wong MC, Yuen Y, Farrer M, Liu JJ, Tan EK. Skipper L, et al. Among authors: tan lc, tan ek. Neurology. 2005 Oct 25;65(8):1319-21. doi: 10.1212/01.wnl.0000180517.70572.37. Neurology. 2005. PMID: 16247070
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease.
Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Krüger R, Rocca WA, Schneider NK, Lesnick TG, Lincoln SJ, Hulihan MM, Aasly JO, Ashizawa T, Chartier-Harlin MC, Checkoway H, Ferrarese C, Hadjigeorgiou G, Hattori N, Kawakami H, Lambert JC, Lynch T, Mellick GD, Papapetropoulos S, Parsian A, Quattrone A, Riess O, Tan EK, Van Broeckhoven C; Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium. Maraganore DM, et al. Among authors: tan ek. JAMA. 2006 Aug 9;296(6):661-70. doi: 10.1001/jama.296.6.661. JAMA. 2006. PMID: 16896109
908 results