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Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n.
Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H. Sato N, et al. Among authors: takahashi m, takahashi y. Am J Hum Genet. 2009 Nov;85(5):544-57. doi: 10.1016/j.ajhg.2009.09.019. Epub 2009 Oct 29. Am J Hum Genet. 2009. PMID: 19878914 Free PMC article.
[Molecular genetic approach to spinocerebellar ataxias].
Ishikawa K, Ishiguro T, Takahashi M, Sato N, Amino T, Niimi Y, Mizusawa H. Ishikawa K, et al. Among authors: takahashi m. Rinsho Shinkeigaku. 2009 Nov;49(11):907-9. doi: 10.5692/clinicalneurol.49.907. Rinsho Shinkeigaku. 2009. PMID: 20030245 Review. Japanese.
The carboxy-terminal fragment of alpha(1A) calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells.
Ishiguro T, Ishikawa K, Takahashi M, Obayashi M, Amino T, Sato N, Sakamoto M, Fujigasaki H, Tsuruta F, Dolmetsch R, Arai T, Sasaki H, Nagashima K, Kato T, Yamada M, Takahashi H, Hashizume Y, Mizusawa H. Ishiguro T, et al. Among authors: takahashi m, takahashi h. Acta Neuropathol. 2010 Apr;119(4):447-64. doi: 10.1007/s00401-009-0630-0. Epub 2009 Dec 31. Acta Neuropathol. 2010. PMID: 20043227 Free PMC article.
Reduced brain-derived neurotrophic factor (BDNF) mRNA expression and presence of BDNF-immunoreactive granules in the spinocerebellar ataxia type 6 (SCA6) cerebellum.
Takahashi M, Ishikawa K, Sato N, Obayashi M, Niimi Y, Ishiguro T, Yamada M, Toyoshima Y, Takahashi H, Kato T, Takao M, Murayama S, Mori O, Eishi Y, Mizusawa H. Takahashi M, et al. Among authors: takahashi h. Neuropathology. 2012 Dec;32(6):595-603. doi: 10.1111/j.1440-1789.2012.01302.x. Epub 2012 Mar 7. Neuropathology. 2012. PMID: 22393909
Cytoplasmic location of α1A voltage-gated calcium channel C-terminal fragment (Cav2.1-CTF) aggregate is sufficient to cause cell death.
Takahashi M, Obayashi M, Ishiguro T, Sato N, Niimi Y, Ozaki K, Mogushi K, Mahmut Y, Tanaka H, Tsuruta F, Dolmetsch R, Yamada M, Takahashi H, Kato T, Mori O, Eishi Y, Mizusawa H, Ishikawa K. Takahashi M, et al. Among authors: takahashi h. PLoS One. 2013;8(3):e50121. doi: 10.1371/journal.pone.0050121. Epub 2013 Mar 7. PLoS One. 2013. PMID: 23505410 Free PMC article.
Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.
Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H. Yuan JH, et al. Among authors: takahashi m. J Hum Genet. 2018 Mar;63(3):281-287. doi: 10.1038/s10038-017-0388-5. Epub 2018 Jan 10. J Hum Genet. 2018. PMID: 29321516
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