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Page 1
A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism.
Book A, Guella I, Candido T, Brice A, Hattori N, Jeon B, Farrer MJ; SNCA Multiplication Investigators of the GEoPD Consortium. Book A, et al. Among authors: farrer mj. Front Neurol. 2018 Dec 11;9:1021. doi: 10.3389/fneur.2018.01021. eCollection 2018. Front Neurol. 2018. PMID: 30619023 Free PMC article.
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. The European Consortium on Genetic Susceptibility in Parkinson's Disease (GSPD).
Vaughan JR, Farrer MJ, Wszolek ZK, Gasser T, Durr A, Agid Y, Bonifati V, DeMichele G, Volpe G, Lincoln S, Breteler M, Meco G, Brice A, Marsden CD, Hardy J, Wood NW. Vaughan JR, et al. Among authors: farrer mj. Hum Mol Genet. 1998 Apr;7(4):751-3. doi: 10.1093/hmg/7.4.751. Hum Mol Genet. 1998. PMID: 9499430
Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects.
Periquet M, Lücking C, Vaughan J, Bonifati V, Dürr A, De Michele G, Horstink M, Farrer M, Illarioshkin SN, Pollak P, Borg M, Brefel-Courbon C, Denefle P, Meco G, Gasser T, Breteler MM, Wood N, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group. The European Consortium on Genetic Susceptibility in Parkinson's Disease. Periquet M, et al. Am J Hum Genet. 2001 Mar;68(3):617-26. doi: 10.1086/318791. Epub 2001 Feb 14. Am J Hum Genet. 2001. PMID: 11179010 Free PMC article.
New parkin mutations and atypical phenotypes in families with autosomal recessive parkinsonism.
Rawal N, Periquet M, Lohmann E, Lücking CB, Teive HA, Ambrosio G, Raskin S, Lincoln S, Hattori N, Guimaraes J, Horstink MW, Dos Santos Bele W, Brousolle E, Destée A, Mizuno Y, Farrer M, Deleuze JF, De Michele G, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Rawal N, et al. Neurology. 2003 Apr 22;60(8):1378-81. doi: 10.1212/01.wnl.0000056167.89221.be. Neurology. 2003. PMID: 12707451
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
Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.
Ishihara L, Warren L, Gibson R, Amouri R, Lesage S, Dürr A, Tazir M, Wszolek ZK, Uitti RJ, Nichols WC, Griffith A, Hattori N, Leppert D, Watts R, Zabetian CP, Foroud TM, Farrer MJ, Brice A, Middleton L, Hentati F. Ishihara L, et al. Among authors: farrer mj. Arch Neurol. 2006 Sep;63(9):1250-4. doi: 10.1001/archneur.63.9.1250. Arch Neurol. 2006. PMID: 16966502
Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease.
Ross OA, Wu YR, Lee MC, Funayama M, Chen ML, Soto AI, Mata IF, Lee-Chen GJ, Chen CM, Tang M, Zhao Y, Hattori N, Farrer MJ, Tan EK, Wu RM. Ross OA, et al. Among authors: farrer mj. Ann Neurol. 2008 Jul;64(1):88-92. doi: 10.1002/ana.21405. Ann Neurol. 2008. PMID: 18412265
Genomic investigation of alpha-synuclein multiplication and parkinsonism.
Ross OA, Braithwaite AT, Skipper LM, Kachergus J, Hulihan MM, Middleton FA, Nishioka K, Fuchs J, Gasser T, Maraganore DM, Adler CH, Larvor L, Chartier-Harlin MC, Nilsson C, Langston JW, Gwinn K, Hattori N, Farrer MJ. Ross OA, et al. Among authors: farrer mj. Ann Neurol. 2008 Jun;63(6):743-50. doi: 10.1002/ana.21380. Ann Neurol. 2008. PMID: 18571778 Free PMC article.
449 results