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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: toda t. J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. J Med Genet. 2012. PMID: 23125461 Free PMC article.
Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries.
Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, Hatano Y, Wang M, Imamichi Y, Mizoguchi K, Miyajima H, Obata F, Toda T, Farrer MJ, Mizuno Y, Hattori N. Tomiyama H, et al. Among authors: toda t. Mov Disord. 2006 Aug;21(8):1102-8. doi: 10.1002/mds.20886. Mov Disord. 2006. PMID: 16622854
Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease.
Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N. Kumazawa R, et al. Among authors: toda t. Arch Neurol. 2008 Jun;65(6):802-8. doi: 10.1001/archneur.65.6.802. Arch Neurol. 2008. PMID: 18541801
LRRK2 P755L variant in sporadic Parkinson's disease.
Tomiyama H, Mizuta I, Li Y, Funayama M, Yoshino H, Li L, Murata M, Yamamoto M, Kubo SI, Mizuno Y, Toda T, Hattori N. Tomiyama H, et al. Among authors: toda t. J Hum Genet. 2008;53(11-12):1012-1015. doi: 10.1007/s10038-008-0336-5. Epub 2008 Oct 16. J Hum Genet. 2008. PMID: 18923807
Mutations for Gaucher disease confer high susceptibility to Parkinson disease.
Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S. Mitsui J, et al. Among authors: toda t. Arch Neurol. 2009 May;66(5):571-6. doi: 10.1001/archneurol.2009.72. Arch Neurol. 2009. PMID: 19433656
1,358 results