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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: satoh m. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
Biallelic COLGALT1 variants are associated with cerebral small vessel disease.
Miyatake S, Schneeberger S, Koyama N, Yokochi K, Ohmura K, Shiina M, Mori H, Koshimizu E, Imagawa E, Uchiyama Y, Mitsuhashi S, Frith MC, Fujita A, Satoh M, Taguri M, Tomono Y, Takahashi K, Doi H, Takeuchi H, Nakashima M, Mizuguchi T, Takata A, Miyake N, Saitsu H, Tanaka F, Ogata K, Hennet T, Matsumoto N. Miyatake S, et al. Among authors: satoh m. Ann Neurol. 2018 Dec;84(6):843-853. doi: 10.1002/ana.25367. Epub 2018 Nov 30. Ann Neurol. 2018. PMID: 30412317
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: satoh m. Brain. 2022 Apr 29;145(3):1139-1150. doi: 10.1093/brain/awab363. Brain. 2022. PMID: 35355059
Rapid and comprehensive diagnostic method for repeat expansion diseases using nanopore sequencing.
Miyatake S, Koshimizu E, Fujita A, Doi H, Okubo M, Wada T, Hamanaka K, Ueda N, Kishida H, Minase G, Matsuno A, Kodaira M, Ogata K, Kato R, Sugiyama A, Sasaki A, Miyama T, Satoh M, Uchiyama Y, Tsuchida N, Hamanoue H, Misawa K, Hayasaka K, Sekijima Y, Adachi H, Yoshida K, Tanaka F, Mizuguchi T, Matsumoto N. Miyatake S, et al. Among authors: satoh m. NPJ Genom Med. 2022 Oct 26;7(1):62. doi: 10.1038/s41525-022-00331-y. NPJ Genom Med. 2022. PMID: 36289212 Free PMC article.
2,879 results