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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: yueh kc. J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. J Med Genet. 2012. PMID: 23125461 Free PMC article.
Large-scale replication and heterogeneity in Parkinson disease genetic loci.
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, Vilariño-Güell 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, Krüger R; GEO-PD Consortium. Sharma M, et al. Among authors: yueh kc. Neurology. 2012 Aug 14;79(7):659-67. doi: 10.1212/WNL.0b013e318264e353. Epub 2012 Jul 11. Neurology. 2012. PMID: 22786590 Free PMC article.
Large-scale assessment of polyglutamine repeat expansions in Parkinson disease.
Wang L, Aasly JO, Annesi G, Bardien S, Bozi M, Brice A, Carr J, Chung SJ, Clarke C, Crosiers D, Deutschländer A, Eckstein G, Farrer MJ, Goldwurm S, Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Klein C, Jeon B, Kim YJ, Lesage S, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Opala G, Pihlstrøm L, Pramstaller PP, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Silburn PA, Theuns J, Tan EK, Tomiyama H, Toft M, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yueh KC, Zhao Y, Gasser T, Maraganore DM, Krüger R, Sharma M; GEO-PD Consortium. Wang L, et al. Among authors: yueh kc. Neurology. 2015 Oct 13;85(15):1283-92. doi: 10.1212/WNL.0000000000002016. Epub 2015 Sep 9. Neurology. 2015. PMID: 26354989 Free PMC article.
TREM2 R47H variant and risk of essential tremor: a cross-sectional international multicenter study.
Ortega-Cubero S, Lorenzo-Betancor O, Lorenzo E, Agúndez JA, Jiménez-Jiménez FJ, Ross OA, Wurster I, Mielke C, Lin JJ, Coria F, Clarimon J, Ezquerra M, Brighina L, Annesi G, Alonso-Navarro H, García-Martin E, Gironell A, Marti MJ, Yueh KC, Wszolek ZK, Sharma M, Berg D, Krüger R, Pastor MA, Pastor P. Ortega-Cubero S, et al. Among authors: yueh kc. Parkinsonism Relat Disord. 2015 Mar;21(3):306-9. doi: 10.1016/j.parkreldis.2014.12.010. Epub 2014 Dec 24. Parkinsonism Relat Disord. 2015. PMID: 25585992 Free PMC article.
22 results