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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. 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.
[Huntington disease].
Doi H, Kuroiwa Y, Doi H, Nukina N. Doi H, et al. Nihon Rinsho. 2004 Jan;62 Suppl:102-7. Nihon Rinsho. 2004. PMID: 15011329 Review. Japanese. No abstract available.
Proteomics of polyglutamine aggregates.
Mitsui K, Doi H, Nukina N. Mitsui K, et al. Among authors: doi h. Methods Enzymol. 2006;412:63-76. doi: 10.1016/S0076-6879(06)12005-4. Methods Enzymol. 2006. PMID: 17046652 Review.
1,580 results