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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: matsumoto n, matsumoto h. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay.
Saitsu H, Watanabe M, Akita T, Ohba C, Sugai K, Ong WP, Shiraishi H, Yuasa S, Matsumoto H, Beng KT, Saitoh S, Miyatake S, Nakashima M, Miyake N, Kato M, Fukuda A, Matsumoto N. Saitsu H, et al. Among authors: matsumoto n, matsumoto h. Sci Rep. 2016 Jul 20;6:30072. doi: 10.1038/srep30072. Sci Rep. 2016. PMID: 27436767 Free PMC article.
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Belal H, Nakashima M, Matsumoto H, Yokochi K, Taniguchi-Ikeda M, Aoto K, Amin MB, Maruyama A, Nagase H, Mizuguchi T, Miyatake S, Miyake N, Iijima K, Nonoyama S, Matsumoto N, Saitsu H. Belal H, et al. Among authors: matsumoto n, matsumoto h. Hum Mutat. 2018 Aug;39(8):1070-1075. doi: 10.1002/humu.23550. Epub 2018 May 25. Hum Mutat. 2018. PMID: 29768694
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
Iwasawa S, Yanagi K, Kikuchi A, Kobayashi Y, Haginoya K, Matsumoto H, Kurosawa K, Ochiai M, Sakai Y, Fujita A, Miyake N, Niihori T, Shirota M, Funayama R, Nonoyama S, Ohga S, Kawame H, Nakayama K, Aoki Y, Matsumoto N, Kaname T, Matsubara Y, Shoji W, Kure S. Iwasawa S, et al. Among authors: matsumoto n, matsumoto h. Ann Neurol. 2019 Jun;85(6):927-933. doi: 10.1002/ana.25481. Epub 2019 Apr 25. Ann Neurol. 2019. PMID: 30945334
Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy.
Shibata A, Kasai M, Hoshino A, Miyagawa T, Matsumoto H, Yamanaka G, Kikuchi K, Kuki I, Kumakura A, Hara S, Shiihara T, Yamazaki S, Ohta M, Yamagata T, Takanashi JI, Kubota M, Oka A, Mizuguchi M. Shibata A, et al. Among authors: matsumoto h. Brain Dev. 2019 Nov;41(10):862-869. doi: 10.1016/j.braindev.2019.07.008. Epub 2019 Jul 24. Brain Dev. 2019. PMID: 31351739
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: matsumoto n, matsumoto h. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
HPeV3-associated acute encephalitis/encephalopathy among Japanese infants.
Abe Y, Ohno T, Matsumoto H, Daimon Y, Kurahashi H, Takayama R, Sakaguchi Y, Tanabe S, Tanaka F, Miyamoto Y, Kawano A, Yamanouchi H. Abe Y, et al. Among authors: matsumoto h. Brain Dev. 2021 Apr;43(4):528-537. doi: 10.1016/j.braindev.2020.12.010. Epub 2021 Jan 8. Brain Dev. 2021. PMID: 33423809
SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.
Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. Uehara DT, et al. Among authors: matsumoto h. J Hum Genet. 2016 Apr;61(4):335-43. doi: 10.1038/jhg.2015.154. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740234
4,914 results