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Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome.
Miyatake S, Yoshida K, Koshimizu E, Doi H, Yamada M, Miyaji Y, Ueda N, Tsuyuzaki J, Kodaira M, Onoue H, Taguri M, Imamura S, Fukuda H, Hamanaka K, Fujita A, Satoh M, Miyama T, Watanabe N, Kurita Y, Okubo M, Tanaka K, Kishida H, Koyano S, Takahashi T, Ono Y, Higashida K, Yoshikura N, Ogata K, Kato R, Tsuchida N, Uchiyama Y, Miyake N, Shimohata T, Tanaka F, Mizuguchi T, Matsumoto N. Miyatake S, et al. Among authors: yoshida k. Brain. 2022 Apr 29;145(3):1139-1150. doi: 10.1093/brain/awab363. Brain. 2022. PMID: 35355059
Adult or late-onset triple A syndrome: case report and literature review.
Nakamura K, Yoshida K, Yoshinaga T, Kodaira M, Shimojima Y, Takei Y, Morita H, Kayanuma K, Ikeda S. Nakamura K, et al. Among authors: yoshida k. J Neurol Sci. 2010 Oct 15;297(1-2):85-8. doi: 10.1016/j.jns.2010.07.006. Epub 2010 Aug 1. J Neurol Sci. 2010. PMID: 20674935 Review.
Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, Ikeda S, Kato R, Tsurusaki Y, Miyake N, Saitsu H, Sakai H, Miyatake S, Shiina M, Nukina N, Koyano S, Tsuji S, Kuroiwa Y, Matsumoto N. Doi H, et al. Among authors: yoshida k. Am J Hum Genet. 2011 Aug 12;89(2):320-7. doi: 10.1016/j.ajhg.2011.07.012. Am J Hum Genet. 2011. PMID: 21835308 Free PMC article.
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation.
Doi H, Ushiyama M, Baba T, Tani K, Shiina M, Ogata K, Miyatake S, Fukuda-Yuzawa Y, Tsuji S, Nakashima M, Tsurusaki Y, Miyake N, Saitsu H, Ikeda S, Tanaka F, Matsumoto N, Yoshida K. Doi H, et al. Among authors: yoshida k. Sci Rep. 2014 Nov 24;4:7132. doi: 10.1038/srep07132. Sci Rep. 2014. PMID: 25417924 Free PMC article.
Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7).
Yahikozawa H, Yoshida K, Sato S, Hanyu N, Doi H, Miyatake S, Matsumoto N. Yahikozawa H, et al. Among authors: yoshida k. Hum Genome Var. 2015 Mar 26;2:15012. doi: 10.1038/hgv.2015.12. eCollection 2015. Hum Genome Var. 2015. PMID: 27081526 Free PMC article.
MTCL1 plays an essential role in maintaining Purkinje neuron axon initial segment.
Satake T, Yamashita K, Hayashi K, Miyatake S, Tamura-Nakano M, Doi H, Furuta Y, Shioi G, Miura E, Takeo YH, Yoshida K, Yahikozawa H, Matsumoto N, Yuzaki M, Suzuki A. Satake T, et al. Among authors: yoshida k. EMBO J. 2017 May 2;36(9):1227-1242. doi: 10.15252/embj.201695630. Epub 2017 Mar 10. EMBO J. 2017. PMID: 28283581 Free PMC article.
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