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Chédiak-Higashi syndrome presenting as a hereditary spastic paraplegia.
Koh K, Tsuchiya M, Ishiura H, Shimazaki H, Nakamura T, Hara H, Suzuyama K, Takahashi M, Tsuji S, Takiyama Y; Japan Spastic Paraplegia Research Consortium. Koh K, et al. Among authors: tsuji s. J Hum Genet. 2022 Feb;67(2):119-121. doi: 10.1038/s10038-021-00977-z. Epub 2021 Sep 6. J Hum Genet. 2022. PMID: 34483340
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: tsuji s. 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: tsuji s. Hum Mol Genet. 1996 Jul;5(7):923-32. doi: 10.1093/hmg/5.7.923. Hum Mol Genet. 1996. PMID: 8817326
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: tsuji s. Nat Genet. 1996 Nov;14(3):277-84. doi: 10.1038/ng1196-277. Nat Genet. 1996. PMID: 8896556
Single sperm analysis of the CAG repeats in the gene for Machado-Joseph disease (MJD1): evidence for non-Mendelian transmission of the MJD1 gene and for the effect of the intragenic CGG/GGG polymorphism on the intergenerational instability.
Takiyama Y, Sakoe K, Soutome M, Namekawa M, Ogawa T, Nakano I, Igarashi S, Oyake M, Tanaka H, Tsuji S, Nishizawa M. Takiyama Y, et al. Among authors: tsuji s. Hum Mol Genet. 1997 Jul;6(7):1063-8. doi: 10.1093/hmg/6.7.1063. Hum Mol Genet. 1997. PMID: 9215676
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: tsuji s. Am J Hum Genet. 1997 Aug;61(2):336-46. doi: 10.1086/514867. Am J Hum Genet. 1997. PMID: 9311738 Free PMC article.
2,708 results