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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: saito m. Am J Hum Genet. 1997 Aug;61(2):336-46. doi: 10.1086/514867. Am J Hum Genet. 1997. PMID: 9311738 Free PMC article.
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: saito m. Nat Genet. 1996 Nov;14(3):277-84. doi: 10.1038/ng1196-277. Nat Genet. 1996. PMID: 8896556
Localization of a gene for an autosomal recessive form of juvenile Parkinsonism to chromosome 6q25.2-27.
Matsumine H, Saito M, Shimoda-Matsubayashi S, Tanaka H, Ishikawa A, Nakagawa-Hattori Y, Yokochi M, Kobayashi T, Igarashi S, Takano H, Sanpei K, Koike R, Mori H, Kondo T, Mizutani Y, Schäffer AA, Yamamura Y, Nakamura S, Kuzuhara S, Tsuji S, Mizuno Y. Matsumine H, et al. Among authors: saito m. Am J Hum Genet. 1997 Mar;60(3):588-96. Am J Hum Genet. 1997. PMID: 9042918 Free PMC article.
Autosomal recessive juvenile parkinsonism.
Saito M, Maruyama M, Ikeuchi K, Kondo H, Ishikawa A, Yuasa T, Tsuji S. Saito M, et al. Brain Dev. 2000 Sep;22 Suppl 1:S115-7. doi: 10.1016/s0387-7604(00)00137-6. Brain Dev. 2000. PMID: 10984671 Review.
8,384 results