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De novo ATP1A3 variants cause polymicrogyria.
Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H, Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y, Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N, Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama C, Matsumoto N. Miyatake S, et al. Among authors: torisu h. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
Founder effect of the C9 R95X mutation in Orientals.
Khajoee V, Ihara K, Kira R, Takemoto M, Torisu H, Sakai Y, Guanjun J, Hee PM, Tokunaga K, Hara T. Khajoee V, et al. Among authors: torisu h. Hum Genet. 2003 Mar;112(3):244-8. doi: 10.1007/s00439-002-0870-8. Epub 2003 Jan 9. Hum Genet. 2003. PMID: 12596049
[Host genetic factors for the development of SSPE].
Kusuhara K, Torisu H, Kira R, Hara T. Kusuhara K, et al. Among authors: torisu h. Nihon Rinsho. 2007 Aug;65(8):1467-74. Nihon Rinsho. 2007. PMID: 17695285 Review. Japanese.
74 results