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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, Koide R, Saito M, Sato A, Tanaka T, Hanyu S, Takiyama Y, Nishizawa M, Shimizu N, Nomura Y, Segawa M, Iwabuchi K, Eguchi I, Tanaka H, Takahashi H, Tsuji S. Sanpei K, et al. Among authors: takiyama y. Nat Genet. 1996 Nov;14(3):277-84. doi: 10.1038/ng1196-277. Nat Genet. 1996. PMID: 8896556
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: takiyama y. Am J Hum Genet. 1997 Aug;61(2):336-46. doi: 10.1086/514867. Am J Hum Genet. 1997. PMID: 9311738 Free PMC article.
Maternal anticipation in Machado-Joseph disease (MJD): some maternal factors independent of the number of CAG repeat units may play a role in genetic anticipation in a Japanese MJD family.
Takiyama Y, Shimazaki H, Morita M, Soutome M, Sakoe K, Esumi E, Muramatsu S, Yoshida M, Igarashi S, Tanaka H, Tsuji S, Sasaki H, Wakisaka A, Nakano I, Nishizawa M. Takiyama Y, et al. J Neurol Sci. 1998 Mar 5;155(2):141-5. doi: 10.1016/s0022-510x(98)00012-4. J Neurol Sci. 1998. PMID: 9562258
230 results