Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

769 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
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.
Anti-NXP2 Antibody-positive Juvenile Dermatomyositis with Characteristic Fascial Thickening on Muscle Ultrasound and Improvement with Immunotherapy.
Fukushima K, Yoshida T, Yamazaki H, Takamatsu N, Nagai T, Osaki Y, Harada M, Nishino I, Okiyama N, Sugie K, Izumi Y. Fukushima K, et al. Among authors: nishino i. Intern Med. 2024 Jun 15;63(12):1813-1817. doi: 10.2169/internalmedicine.2720-23. Epub 2023 Nov 6. Intern Med. 2024. PMID: 37926535 Free PMC article.
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.
769 results