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Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.
Ishikawa K, Tanaka H, Saito M, Ohkoshi N, Fujita T, Yoshizawa K, Ikeuchi T, Watanabe M, Hayashi A, Takiyama Y, Nishizawa M, Nakano I, Matsubayashi K, Miwa M, Shoji S, Kanazawa I, Tsuji S, Mizusawa H. Ishikawa K, et al. Among authors: tanaka h. Am J Hum Genet. 1997 Aug;61(2):336-46. doi: 10.1086/514867. Am J Hum Genet. 1997. PMID: 9311738 Free PMC article.
Close associations between prevalences of dominantly inherited spinocerebellar ataxias with CAG-repeat expansions and frequencies of large normal CAG alleles in Japanese and Caucasian populations.
Takano H, Cancel G, Ikeuchi T, Lorenzetti D, Mawad R, Stevanin G, Didierjean O, Dürr A, Oyake M, Shimohata T, Sasaki R, Koide R, Igarashi S, Hayashi S, Takiyama Y, Nishizawa M, Tanaka H, Zoghbi H, Brice A, Tsuji S. Takano H, et al. Among authors: tanaka h. Am J Hum Genet. 1998 Oct;63(4):1060-6. doi: 10.1086/302067. Am J Hum Genet. 1998. PMID: 9758625 Free PMC article.
The gene for Machado-Joseph disease maps to human chromosome 14q.
Takiyama Y, Nishizawa M, Tanaka H, Kawashima S, Sakamoto H, Karube Y, Shimazaki H, Soutome M, Endo K, Ohta S, et al. Takiyama Y, et al. Among authors: tanaka h. Nat Genet. 1993 Jul;4(3):300-4. doi: 10.1038/ng0793-300. Nat Genet. 1993. PMID: 8358439
Pure cerebellar ataxia phenotype in Machado-Joseph disease.
Ishikawa K, Mizusawa H, Igarashi S, Takiyama Y, Tanaka H, Ohkoshi N, Shoji S, Tsuji S. Ishikawa K, et al. Among authors: tanaka h. Neurology. 1996 Jun;46(6):1776-7. doi: 10.1212/wnl.46.6.1776. Neurology. 1996. PMID: 8649595 No abstract available.
Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.
Igarashi S, Takiyama Y, Cancel G, Rogaeva EA, Sasaki H, Wakisaka A, Zhou YX, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, Dürr A, Rogaev EI, Sherrington R, Tsuda T, Ikeda M, Cassa E, Nishizawa M, Benomar A, Julien J, Weissenbach J, Wang GX, Agid Y, St George-Hyslop PH, Brice A, Tsuji S. Igarashi S, et al. Among authors: tanaka h. Hum Mol Genet. 1996 Jul;5(7):923-32. doi: 10.1093/hmg/5.7.923. Hum Mol Genet. 1996. PMID: 8817326
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