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Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.
Sato T, Oyake M, Nakamura K, Nakao K, Fukusima Y, Onodera O, Igarashi S, Takano H, Kikugawa K, Ishida Y, Shimohata T, Koide R, Ikeuchi T, Tanaka H, Futamura N, Matsumura R, Takayanagi T, Tanaka F, Sobue G, Komure O, Takahashi M, Sano A, Ichikawa Y, Goto J, Kanazawa I, et al. Sato T, et al. Among authors: kanazawa i. Hum Mol Genet. 1999 Jan;8(1):99-106. doi: 10.1093/hmg/8.1.99. Hum Mol Genet. 1999. PMID: 9887337
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