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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: kanazawa i. Am J Hum Genet. 1997 Aug;61(2):336-46. doi: 10.1086/514867. Am J Hum Genet. 1997. PMID: 9311738 Free PMC article.
Abundant expression and cytoplasmic aggregations of [alpha]1A voltage-dependent calcium channel protein associated with neurodegeneration in spinocerebellar ataxia type 6.
Ishikawa K, Fujigasaki H, Saegusa H, Ohwada K, Fujita T, Iwamoto H, Komatsuzaki Y, Toru S, Toriyama H, Watanabe M, Ohkoshi N, Shoji S, Kanazawa I, Tanabe T, Mizusawa H. Ishikawa K, et al. Among authors: kanazawa i. Hum Mol Genet. 1999 Jul;8(7):1185-93. doi: 10.1093/hmg/8.7.1185. Hum Mol Genet. 1999. PMID: 10369863
The genomic structure and expression of MJD, the Machado-Joseph disease gene.
Ichikawa Y, Goto J, Hattori M, Toyoda A, Ishii K, Jeong SY, Hashida H, Masuda N, Ogata K, Kasai F, Hirai M, Maciel P, Rouleau GA, Sakaki Y, Kanazawa I. Ichikawa Y, et al. Among authors: kanazawa i. J Hum Genet. 2001;46(7):413-22. doi: 10.1007/s100380170060. J Hum Genet. 2001. PMID: 11450850
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S. Ishiura H, et al. Among authors: kanazawa i. J Hum Genet. 2014 Mar;59(3):163-72. doi: 10.1038/jhg.2013.139. Epub 2014 Jan 23. J Hum Genet. 2014. PMID: 24451228
663 results