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

1,208 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: shirai k. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856 Free article.
De novo PHACTR1 mutations in West syndrome and their pathophysiological effects.
Hamada N, Ogaya S, Nakashima M, Nishijo T, Sugawara Y, Iwamoto I, Ito H, Maki Y, Shirai K, Baba S, Maruyama K, Saitsu H, Kato M, Matsumoto N, Momiyama T, Nagata KI. Hamada N, et al. Among authors: shirai k. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246. Brain. 2018. PMID: 30256902
KCNT1-positive epilepsy of infancy with migrating focal seizures successfully treated with nonnarcotic antitussive drugs after treatment failure with quinidine: A case report.
Takase C, Shirai K, Matsumura Y, Watanabe T, Watanabe A, Hirasawa-Inoue A, Mizuguchi T, Matsumoto N, Sugai K, Hayashi M. Takase C, et al. Among authors: shirai k. Brain Dev. 2020 Sep;42(8):607-611. doi: 10.1016/j.braindev.2020.05.002. Epub 2020 Jun 3. Brain Dev. 2020. PMID: 32505479
A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.
Akutsu Y, Shirai K, Takei A, Goto Y, Aoyama T, Watanabe A, Imamura M, Enokizono T, Ohto T, Hori T, Suzuki K, Hayashi M, Masumoto K, Inoue K. Akutsu Y, et al. Among authors: shirai k. Am J Med Genet A. 2018 May;176(5):1195-1199. doi: 10.1002/ajmg.a.38657. Am J Med Genet A. 2018. PMID: 29681101
Stimulus-induced reflex epileptic spasms in 5p- syndrome.
Shirai K, Saito Y, Yokoyama A, Nishimura Y, Tamasaki A, Maegaki Y. Shirai K, et al. Brain Dev. 2016 Feb;38(2):261-5. doi: 10.1016/j.braindev.2015.08.002. Epub 2015 Aug 18. Brain Dev. 2016. PMID: 26298410
1,208 results