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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: asai 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.
Clinical and genetic characteristics of patients with Doose syndrome.
Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Hinokuma N, et al. Among authors: asai h. Epilepsia Open. 2020 Jul 23;5(3):442-450. doi: 10.1002/epi4.12417. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913952 Free PMC article.
Increased ACE2 and TMPRSS2 expression in ulcerative colitis.
Hamamoto Y, Kawamura M, Uchida H, Hiramatsu K, Katori C, Asai H, Egawa S, Yoshida K. Hamamoto Y, et al. Among authors: asai h. Pathol Res Pract. 2024 Feb;254:155108. doi: 10.1016/j.prp.2024.155108. Epub 2024 Jan 10. Pathol Res Pract. 2024. PMID: 38246035
442 results