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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: van broeckhoven c. J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. J Med Genet. 2012. PMID: 23125461 Free PMC article.
Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.
Theuns J, Del-Favero J, Dermaut B, van Duijn CM, Backhovens H, Van den Broeck MV, Serneels S, Corsmit E, Van Broeckhoven CV, Cruts M. Theuns J, et al. Among authors: van duijn cm, van broeckhoven cv, van den broeck mv. Hum Mol Genet. 2000 Feb 12;9(3):325-31. doi: 10.1093/hmg/9.3.325. Hum Mol Genet. 2000. PMID: 10655540 Free article.
The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.
Dermaut B, Theuns J, Sleegers K, Hasegawa H, Van den Broeck M, Vennekens K, Corsmit E, St George-Hyslop P, Cruts M, van Duijn CM, Van Broeckhoven C. Dermaut B, et al. Among authors: van duijn cm, van den broeck m, van broeckhoven c. Am J Hum Genet. 2002 Jun;70(6):1568-74. doi: 10.1086/340732. Epub 2002 Apr 24. Am J Hum Genet. 2002. PMID: 11992262 Free PMC article.
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.
Dermaut B, Kumar-Singh S, Rademakers R, Theuns J, Cruts M, Van Broeckhoven C. Dermaut B, et al. Among authors: van broeckhoven c. Trends Genet. 2005 Dec;21(12):664-72. doi: 10.1016/j.tig.2005.09.005. Epub 2005 Oct 10. Trends Genet. 2005. PMID: 16221505 Review.
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: van broeckhoven c. JAMA. 2006 Aug 9;296(6):661-70. doi: 10.1001/jama.296.6.661. JAMA. 2006. PMID: 16896109
Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study.
Elbaz A, Nelson LM, Payami H, Ioannidis JP, Fiske BK, Annesi G, Carmine Belin A, Factor SA, Ferrarese C, Hadjigeorgiou GM, Higgins DS, Kawakami H, Krüger R, Marder KS, Mayeux RP, Mellick GD, Nutt JG, Ritz B, Samii A, Tanner CM, Van Broeckhoven C, Van Den Eeden SK, Wirdefeldt K, Zabetian CP, Dehem M, Montimurro JS, Southwick A, Myers RM, Trikalinos TA. Elbaz A, et al. Among authors: van den eeden sk, van broeckhoven c. Lancet Neurol. 2006 Nov;5(11):917-23. doi: 10.1016/S1474-4422(06)70579-8. Lancet Neurol. 2006. PMID: 17052658 Free PMC article.
776 results