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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

847 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Spinal muscular atrophy: from gene discovery to clinical trials.
Nurputra DK, Lai PS, Harahap NI, Morikawa S, Yamamoto T, Nishimura N, Kubo Y, Takeuchi A, Saito T, Takeshima Y, Tohyama Y, Tay SK, Low PS, Saito K, Nishio H. Nurputra DK, et al. Among authors: nishio h. Ann Hum Genet. 2013 Sep;77(5):435-63. doi: 10.1111/ahg.12031. Epub 2013 Jul 23. Ann Hum Genet. 2013. PMID: 23879295 Review.
Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan.
Okamoto K, Fukuda M, Saito I, Urate R, Maniwa S, Usui D, Motoki T, Jogamoto T, Aibara K, Hosokawa T, Konishi Y, Arakawa R, Mori K, Ishii E, Saito K, Nishio H. Okamoto K, et al. Among authors: nishio h. Brain Dev. 2019 Jan;41(1):36-42. doi: 10.1016/j.braindev.2018.07.016. Epub 2018 Aug 6. Brain Dev. 2019. PMID: 30093179
Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.
Okamoto K, Motoki T, Saito I, Urate R, Aibara K, Jogamoto T, Fukuda M, Wakamoto H, Maniwa S, Kondo Y, Toda Y, Goji A, Mori T, Soga T, Konishi Y, Nagai S, Takami Y, Tokorodani C, Nishiuchi R, Usui D, Ando R, Tada S, Yamanishi Y, Nagai M, Arakawa R, Saito K, Nishio H, Ishii E, Eguchi M. Okamoto K, et al. Among authors: nishio h. Brain Dev. 2020 Sep;42(8):594-602. doi: 10.1016/j.braindev.2020.05.004. Epub 2020 Jun 3. Brain Dev. 2020. PMID: 32505480
Clinical phenotypes of spinal muscular atrophy patients with hybrid SMN gene.
Niba ETE, Nishio H, Wijaya YOS, Lai PS, Tozawa T, Chiyonobu T, Yamadera M, Okamoto K, Awano H, Takeshima Y, Saito T, Shinohara M. Niba ETE, et al. Among authors: nishio h. Brain Dev. 2021 Feb;43(2):294-302. doi: 10.1016/j.braindev.2020.09.005. Epub 2020 Oct 6. Brain Dev. 2021. PMID: 33036822
A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study.
Shinohara M, Niba ETE, Wijaya YOS, Takayama I, Mitsuishi C, Kumasaka S, Kondo Y, Takatera A, Hokuto I, Morioka I, Ogiwara K, Tobita K, Takeuchi A, Nishio H; SMA-NBS PILOT STUDY GROUP. Shinohara M, et al. Among authors: nishio h. Int J Neonatal Screen. 2019 Nov 12;5(4):41. doi: 10.3390/ijns5040041. eCollection 2019 Dec. Int J Neonatal Screen. 2019. PMID: 33072999 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 33561069
Dried Blood Spot Screening System for Spinal Muscular Atrophy with Allele-Specific Polymerase Chain Reaction and Melting Peak Analysis.
Wijaya YOS, Nishio H, Niba ETE, Shiroshita T, Kato M, Bouike Y, Tode C, Ar Rochmah M, Harahap NIF, Nurputra DK, Okamoto K, Saito T, Takeuchi A, Lai PS, Yamaguchi S, Shinohara M. Wijaya YOS, et al. Among authors: nishio h. Genet Test Mol Biomarkers. 2021 Apr;25(4):293-301. doi: 10.1089/gtmb.2020.0312. Genet Test Mol Biomarkers. 2021. PMID: 33877896
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
Kimizu T, Ida S, Okamoto K, Awano H, Niba ETE, Wijaya YOS, Okazaki S, Shimomura H, Lee T, Tominaga K, Nabatame S, Saito T, Hamazaki T, Sakai N, Saito K, Shintaku H, Nozu K, Takeshima Y, Iijima K, Nishio H, Shinohara M. Kimizu T, et al. Among authors: nishio h. Int J Neonatal Screen. 2021 Jul 20;7(3):45. doi: 10.3390/ijns7030045. Int J Neonatal Screen. 2021. PMID: 34287247 Free PMC article.
847 results