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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: pramstaller pp. 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: pramstaller pp. Mov Disord. 2005 Sep;20(9):1191-4. doi: 10.1002/mds.20504. Mov Disord. 2005. PMID: 15895422
The genetic study of three population microisolates in South Tyrol (MICROS): study design and epidemiological perspectives.
Pattaro C, Marroni F, Riegler A, Mascalzoni D, Pichler I, Volpato CB, Dal Cero U, De Grandi A, Egger C, Eisendle A, Fuchsberger C, Gögele M, Pedrotti S, Pinggera GK, Stefanov SA, Vogl FD, Wiedermann CJ, Meitinger T, Pramstaller PP. Pattaro C, et al. Among authors: pramstaller pp. BMC Med Genet. 2007 Jun 5;8:29. doi: 10.1186/1471-2350-8-29. BMC Med Genet. 2007. PMID: 17550581 Free PMC article.
Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13.
Kemlink D, Plazzi G, Vetrugno R, Provini F, Polo O, Stiasny-Kolster K, Oertel W, Nevsimalova S, Sonka K, Högl B, Frauscher B, Hadjigeorgiou GM, Pramstaller PP, Lichtner P, Meitinger T, Müller-Myshok B, Winkelmann J, Montagna P. Kemlink D, et al. Among authors: pramstaller pp. Neurogenetics. 2008 May;9(2):75-82. doi: 10.1007/s10048-007-0113-1. Epub 2008 Jan 10. Neurogenetics. 2008. PMID: 18193462 Free PMC article.
ATP13A2 variants in early-onset Parkinson's disease patients and controls.
Djarmati A, Hagenah J, Reetz K, Winkler S, Behrens MI, Pawlack H, Lohmann K, Ramirez A, Tadić V, Brüggemann N, Berg D, Siebner HR, Lang AE, Pramstaller PP, Binkofski F, Kostić VS, Volkmann J, Gasser T, Klein C. Djarmati A, et al. Among authors: pramstaller pp. Mov Disord. 2009 Oct 30;24(14):2104-11. doi: 10.1002/mds.22728. Mov Disord. 2009. PMID: 19705361
Genomewide association study for onset age in Parkinson disease.
Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T; PROGENI Investigators, Coordinators and Molecular Genetic Laboratories; GenePD Investigators, Coordinators and Molecular Genetic Laboratories. Latourelle JC, et al. BMC Med Genet. 2009 Sep 22;10:98. doi: 10.1186/1471-2350-10-98. BMC Med Genet. 2009. PMID: 19772629 Free PMC article.
382 results