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Page 1
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Nakamura K, Kato M, Osaka H, Yamashita S, Nakagawa E, Haginoya K, Tohyama J, Okuda M, Wada T, Shimakawa S, Imai K, Takeshita S, Ishiwata H, Lev D, Lerman-Sagie T, Cervantes-Barragán DE, Villarroel CE, Ohfu M, Writzl K, Gnidovec Strazisar B, Hirabayashi S, Chitayat D, Myles Reid D, Nishiyama K, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Hayasaka K, Matsumoto N, Saitsu H. Nakamura K, et al. Among authors: hirabayashi s. Neurology. 2013 Sep 10;81(11):992-8. doi: 10.1212/WNL.0b013e3182a43e57. Epub 2013 Aug 9. Neurology. 2013. PMID: 23935176
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Yoneda Y, Haginoya K, Kato M, Osaka H, Yokochi K, Arai H, Kakita A, Yamamoto T, Otsuki Y, Shimizu S, Wada T, Koyama N, Mino Y, Kondo N, Takahashi S, Hirabayashi S, Takanashi J, Okumura A, Kumagai T, Hirai S, Nabetani M, Saitoh S, Hattori A, Yamasaki M, Kumakura A, Sugo Y, Nishiyama K, Miyatake S, Tsurusaki Y, Doi H, Miyake N, Matsumoto N, Saitsu H. Yoneda Y, et al. Among authors: hirabayashi s. Ann Neurol. 2013 Jan;73(1):48-57. doi: 10.1002/ana.23736. Epub 2012 Dec 7. Ann Neurol. 2013. PMID: 23225343
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: hirabayashi s. J Hum Genet. 2016 Jun;61(6):527-31. doi: 10.1038/jhg.2016.9. Epub 2016 Feb 18. J Hum Genet. 2016. PMID: 26888482
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: hirabayashi s. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
A nationwide survey of pediatric acquired demyelinating syndromes in Japan.
Yamaguchi Y, Torisu H, Kira R, Ishizaki Y, Sakai Y, Sanefuji M, Ichiyama T, Oka A, Kishi T, Kimura S, Kubota M, Takanashi J, Takahashi Y, Tamai H, Natsume J, Hamano S, Hirabayashi S, Maegaki Y, Mizuguchi M, Minagawa K, Yoshikawa H, Kira J, Kusunoki S, Hara T. Yamaguchi Y, et al. Among authors: hirabayashi s. Neurology. 2016 Nov 8;87(19):2006-2015. doi: 10.1212/WNL.0000000000003318. Epub 2016 Oct 14. Neurology. 2016. PMID: 27742816 Free PMC article.
A novel PAK3 pathogenic variant identified in two siblings from a Japanese family with X-linked intellectual disability: case report and review of the literature.
Iida A, Takano K, Takeshita E, Abe-Hatano C, Hirabayashi S, Inaba Y, Kosugi S, Kamatani Y, Momozawa Y, Kubo M, Nakagawa E, Inoue K, Goto YI. Iida A, et al. Among authors: hirabayashi s. Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003988. doi: 10.1101/mcs.a003988. Print 2019 Dec. Cold Spring Harb Mol Case Stud. 2019. PMID: 31444167 Free PMC article. Review.
394 results