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

343 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: shimono m. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Clinical study of childhood acute disseminated encephalomyelitis, multiple sclerosis, and acute transverse myelitis in Fukuoka Prefecture, Japan.
Torisu H, Kira R, Ishizaki Y, Sanefuji M, Yamaguchi Y, Yasumoto S, Murakami Y, Shimono M, Nagamitsu S, Masuzaki M, Amamoto M, Kondo R, Uozumi T, Aibe M, Gondo K, Hanai T, Hirose S, Matsuishi T, Shirahata A, Mitsudome A, Hara T. Torisu H, et al. Among authors: shimono m. Brain Dev. 2010 Jun;32(6):454-62. doi: 10.1016/j.braindev.2009.10.006. Epub 2009 Nov 25. Brain Dev. 2010. PMID: 19942388 Free article.
WDR45 mutations in three male patients with West syndrome.
Nakashima M, Takano K, Tsuyusaki Y, Yoshitomi S, Shimono M, Aoki Y, Kato M, Aida N, Mizuguchi T, Miyatake S, Miyake N, Osaka H, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: shimono m. J Hum Genet. 2016 Jul;61(7):653-61. doi: 10.1038/jhg.2016.27. Epub 2016 Mar 31. J Hum Genet. 2016. PMID: 27030146 Review.
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.
Araya N, Takahashi Y, Shimono M, Fukuda T, Kato M, Nakashima M, Matsumoto N, Saitsu H. Araya N, et al. Among authors: shimono m. Hum Genome Var. 2018 Jul 12;5:16. doi: 10.1038/s41439-018-0015-9. eCollection 2018. Hum Genome Var. 2018. PMID: 30083360 Free PMC article.
Genotype-phenotype correlations in alternating hemiplegia of childhood.
Sasaki M, Ishii A, Saito Y, Morisada N, Iijima K, Takada S, Araki A, Tanabe Y, Arai H, Yamashita S, Ohashi T, Oda Y, Ichiseki H, Hirabayashi S, Yasuhara A, Kawawaki H, Kimura S, Shimono M, Narumiya S, Suzuki M, Yoshida T, Oyazato Y, Tsuneishi S, Ozasa S, Yokochi K, Dejima S, Akiyama T, Kishi N, Kira R, Ikeda T, Oguni H, Zhang B, Tsuji S, Hirose S. Sasaki M, et al. Among authors: shimono m. Neurology. 2014 Feb 11;82(6):482-90. doi: 10.1212/WNL.0000000000000102. Epub 2014 Jan 15. Neurology. 2014. PMID: 24431296
Association of physical activity and sleep habits during pregnancy with autistic spectrum disorder in 3-year-old infants.
Nakahara K, Michikawa T, Morokuma S, Hamada N, Ogawa M, Kato K, Sanefuji M, Shibata E, Tsuji M, Shimono M, Kawamoto T, Ohga S, Kusuhara K; Japan Environment and Children’s Study Group. Nakahara K, et al. Among authors: shimono m. Commun Med (Lond). 2022 Apr 5;2:35. doi: 10.1038/s43856-022-00101-y. eCollection 2022. Commun Med (Lond). 2022. PMID: 35603288 Free PMC article.
343 results