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CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis.
Kume K, Kurashige T, Muguruma K, Morino H, Tada Y, Kikumoto M, Miyamoto T, Akutsu SN, Matsuda Y, Matsuura S, Nakamori M, Nishiyama A, Izumi R, Niihori T, Ogasawara M, Eura N, Kato T, Yokomura M, Nakayama Y, Ito H, Nakamura M, Saito K, Riku Y, Iwasaki Y, Maruyama H, Aoki Y, Nishino I, Izumi Y, Aoki M, Kawakami H. Kume K, et al. Among authors: nakayama y. Am J Hum Genet. 2023 Jul 6;110(7):1086-1097. doi: 10.1016/j.ajhg.2023.05.014. Epub 2023 Jun 19. Am J Hum Genet. 2023. PMID: 37339631 Free PMC article.
The Japanese Early-Stage Trial of High-Dose Methylcobalamin for Amyotrophic Lateral Sclerosis (JETALS): Protocol for a Randomized Controlled Trial.
Oki R, Izumi Y, Nodera H, Sato Y, Nokihara H, Kanai K, Sonoo M, Urushitani M, Nishinaka K, Atsuta N, Kohara N, Shimizu T, Kikuchi H, Oda M, Ikeda K, Nagai M, Komai K, Kojima Y, Kuzume D, Isose S, Shimohama S, Abe K, Ito H, Noda K, Ishihara T, Morita M, Shimohata T, Teramukai S, Kagimura T, Noma K, Yanagawa H, Kuwabara S, Kaji R; JETALS. Oki R, et al. JMIR Res Protoc. 2018 Dec 21;7(12):e12046. doi: 10.2196/12046. JMIR Res Protoc. 2018. PMID: 30578206 Free PMC article.
Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan.
Li Y, Ikeda A, Yoshino H, Oyama G, Kitani M, Daida K, Hayashida A, Ogaki K, Yoshida K, Kimura T, Nakayama Y, Ito H, Sugeno N, Aoki M, Miyajima H, Kimura K, Ueda N, Watanabe M, Urabe T, Takanashi M, Funayama M, Nishioka K, Hattori N. Li Y, et al. Among authors: nakayama y. J Hum Genet. 2020 Sep;65(9):771-781. doi: 10.1038/s10038-020-0772-4. Epub 2020 May 13. J Hum Genet. 2020. PMID: 32398759
Efficacy and Safety of Ultrahigh-Dose Methylcobalamin in Early-Stage Amyotrophic Lateral Sclerosis: A Randomized Clinical Trial.
Oki R, Izumi Y, Fujita K, Miyamoto R, Nodera H, Sato Y, Sakaguchi S, Nokihara H, Kanai K, Tsunemi T, Hattori N, Hatanaka Y, Sonoo M, Atsuta N, Sobue G, Shimizu T, Shibuya K, Ikeda K, Kano O, Nishinaka K, Kojima Y, Oda M, Komai K, Kikuchi H, Kohara N, Urushitani M, Nakayama Y, Ito H, Nagai M, Nishiyama K, Kuzume D, Shimohama S, Shimohata T, Abe K, Ishihara T, Onodera O, Isose S, Araki N, Morita M, Noda K, Toda T, Maruyama H, Furuya H, Teramukai S, Kagimura T, Noma K, Yanagawa H, Kuwabara S, Kaji R; Japan Early-Stage Trial of Ultrahigh-Dose Methylcobalamin for ALS (JETALS) Collaborators. Oki R, et al. Among authors: nakayama y. JAMA Neurol. 2022 Jun 1;79(6):575-583. doi: 10.1001/jamaneurol.2022.0901. JAMA Neurol. 2022. PMID: 35532908 Free PMC article. Clinical Trial.
SUMO1 Modification of Tau in Progressive Supranuclear Palsy.
Takamura H, Nakayama Y, Ito H, Katayama T, Fraser PE, Matsuzaki S. Takamura H, et al. Among authors: nakayama y. Mol Neurobiol. 2022 Jul;59(7):4419-4435. doi: 10.1007/s12035-022-02734-5. Epub 2022 May 14. Mol Neurobiol. 2022. PMID: 35567706 Free PMC article.
Comparison of two families with and without ataxia harboring novel variants in PRKCG.
Tada Y, Kume K, Noguchi S, Sekiya T, Nishinaka K, Ishiguchi H, Koh J, Emori S, Nakayama Y, Kurashige T, Izumi Y, Ito H, Sakai N, Kawakami H. Tada Y, et al. Among authors: nakayama y. J Hum Genet. 2022 Oct;67(10):595-599. doi: 10.1038/s10038-022-01057-6. Epub 2022 Jun 28. J Hum Genet. 2022. PMID: 35760954
2,550 results