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Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
Lin CH, Tsai PI, Lin HY, Hattori N, Funayama M, Jeon B, Sato K, Abe K, Mukai Y, Takahashi Y, Li Y, Nishioka K, Yoshino H, Daida K, Chen ML, Cheng J, Huang CY, Tzeng SR, Wu YS, Lai HJ, Tsai HH, Yen RF, Lee NC, Lo WC, Hung YC, Chan CC, Ke YC, Chao CC, Hsieh ST, Farrer M, Wu RM. Lin CH, et al. Among authors: farrer m. Brain. 2020 Dec 5;143(11):3352-3373. doi: 10.1093/brain/awaa279. Brain. 2020. PMID: 33141179 Free PMC article.
Autosomal dominant parkinsonism associated with variable synuclein and tau pathology.
Wszolek ZK, Pfeiffer RF, Tsuboi Y, Uitti RJ, McComb RD, Stoessl AJ, Strongosky AJ, Zimprich A, Müller-Myhsok B, Farrer MJ, Gasser T, Calne DB, Dickson DW. Wszolek ZK, et al. Among authors: farrer mj. Neurology. 2004 May 11;62(9):1619-22. doi: 10.1212/01.wnl.0000125015.06989.db. Neurology. 2004. PMID: 15136696
Lrrk2 pathogenic substitutions in Parkinson's disease.
Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ. Mata IF, et al. Among authors: farrer mj. Neurogenetics. 2005 Dec;6(4):171-7. doi: 10.1007/s10048-005-0005-1. Epub 2005 Sep 17. Neurogenetics. 2005. PMID: 16172858
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: farrer mj. Ann Neurol. 2006 Feb;59(2):298-309. doi: 10.1002/ana.20753. Ann Neurol. 2006. PMID: 16358335
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: farrer mj. Mov Disord. 2006 Aug;21(8):1102-8. doi: 10.1002/mds.20886. Mov Disord. 2006. PMID: 16622854
475 results