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Clinical and Pathological Features of FTDP-17 with MAPT p.K298_H299insQ Mutation.
Morino H, Kurashige T, Matsuda Y, Ono M, Sahara N, Miyasaka T, Soeda Y, Shimada H, Yamazaki Y, Takahashi T, Izumi Y, Ito H, Maruyama H, Higuchi M, Arihiro K, Suhara T, Takashima A, Kawakami H. Morino H, et al. Among authors: izumi y. Mov Disord Clin Pract. 2024 Jun;11(6):720-727. doi: 10.1002/mdc3.14042. Epub 2024 Apr 11. Mov Disord Clin Pract. 2024. PMID: 38605589
[Spinocerebellar ataxia type 8(SCA 8)].
Izumi Y, Maruyama H, Kawakami H. Izumi Y, et al. No To Shinkei. 2001 Jan;53(1):34-40. No To Shinkei. 2001. PMID: 11211728 Review. Japanese. No abstract available.
CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca2+ homeostasis.
Ikeda A, Meng H, Taniguchi D, Mio M, Funayama M, Nishioka K, Yoshida M, Li Y, Yoshino H, Inoshita T, Shiba-Fukushima K, Okubo Y, Sakurai T, Amo T, Aiba I, Saito Y, Saito Y, Murayama S, Atsuta N, Nakamura R, Tohnai G, Izumi Y, Morita M, Tamura A, Kano O, Oda M, Kuwabara S, Yamashita T, Sone J, Kaji R, Sobue G, Imai Y, Hattori N. Ikeda A, et al. Among authors: izumi y. PNAS Nexus. 2024 Jul 30;3(8):pgae319. doi: 10.1093/pnasnexus/pgae319. eCollection 2024 Aug. PNAS Nexus. 2024. PMID: 39131911 Free PMC article.
2,146 results