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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: nishino i. 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.
Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.
Suzuki N, Mori-Yoshimura M, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M. Suzuki N, et al. Among authors: nishino i. J Neuromuscul Dis. 2023;10(4):555-566. doi: 10.3233/JND-230029. J Neuromuscul Dis. 2023. PMID: 37125562 Free PMC article. Clinical Trial.
Efficacy confirmation study of aceneuramic acid administration for GNE myopathy in Japan.
Mori-Yoshimura M, Suzuki N, Katsuno M, Takahashi MP, Yamashita S, Oya Y, Hashizume A, Yamada S, Nakamori M, Izumi R, Kato M, Warita H, Tateyama M, Kuroda H, Asada R, Yamaguchi T, Nishino I, Aoki M. Mori-Yoshimura M, et al. Among authors: nishino i. Orphanet J Rare Dis. 2023 Aug 11;18(1):241. doi: 10.1186/s13023-023-02850-y. Orphanet J Rare Dis. 2023. PMID: 37568154 Free PMC article. Clinical Trial.
Branchpoints as potential targets of exon-skipping therapies for genetic disorders.
Ohara H, Hosokawa M, Awaya T, Hagiwara A, Kurosawa R, Sako Y, Ogawa M, Ogasawara M, Noguchi S, Goto Y, Takahashi R, Nishino I, Hagiwara M. Ohara H, et al. Among authors: nishino i. Mol Ther Nucleic Acids. 2023 Jul 17;33:404-412. doi: 10.1016/j.omtn.2023.07.011. eCollection 2023 Sep 12. Mol Ther Nucleic Acids. 2023. PMID: 37547287 Free PMC article.
749 results