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A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease.
Pihlstrøm L, Blauwendraat C, Cappelletti C, Berge-Seidl V, Langmyhr M, Henriksen SP, van de Berg WDJ, Gibbs JR, Cookson MR; International Parkinson Disease Genomics Consortium; North American Brain Expression Consortium; Singleton AB, Nalls MA, Toft M. Pihlstrøm L, et al. Among authors: singleton ab. Ann Neurol. 2018 Jul;84(1):117-129. doi: 10.1002/ana.25274. Epub 2018 Aug 26. Ann Neurol. 2018. PMID: 30146727 Free PMC article.
Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
Hernandez DG, Paisán-Ruíz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schäffer AA, Lopez GJ, Nussbaum RL, Singleton AB. Hernandez DG, et al. Among authors: singleton ab. Ann Neurol. 2005 Mar;57(3):453-6. doi: 10.1002/ana.20401. Ann Neurol. 2005. PMID: 15732108
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.
Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N. Nishioka K, et al. Among authors: singleton ab. Ann Neurol. 2006 Feb;59(2):298-309. doi: 10.1002/ana.20753. Ann Neurol. 2006. PMID: 16358335
Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.
van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB. van de Leemput J, et al. Among authors: singleton ab. PLoS Genet. 2007 Jun;3(6):e108. doi: 10.1371/journal.pgen.0030108. Epub 2007 May 16. PLoS Genet. 2007. PMID: 17590087 Free PMC article.
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA.
Camargos S, Scholz S, Simón-Sánchez J, Paisán-Ruiz C, Lewis P, Hernandez D, Ding J, Gibbs JR, Cookson MR, Bras J, Guerreiro R, Oliveira CR, Lees A, Hardy J, Cardoso F, Singleton AB. Camargos S, et al. Among authors: singleton ab. Lancet Neurol. 2008 Mar;7(3):207-15. doi: 10.1016/S1474-4422(08)70022-X. Epub 2008 Feb 1. Lancet Neurol. 2008. PMID: 18243799
453 results