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Novel mutation in HPRT1 causing a splicing error with multiple variations.
Baba S, Saito T, Yamada Y, Takeshita E, Nomura N, Yamada K, Wakamatsu N, Sasaki M. Baba S, et al. Nucleosides Nucleotides Nucleic Acids. 2017 Jan 2;36(1):1-6. doi: 10.1080/15257770.2016.1163381. Epub 2016 Oct 18. Nucleosides Nucleotides Nucleic Acids. 2017. PMID: 27754763
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: baba s. Brain. 2018 Nov 1;141(11):3098-3114. doi: 10.1093/brain/awy246. Brain. 2018. PMID: 30256902
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: baba s. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Efficacy of long-term adrenocorticotropic hormone therapy for West syndrome: A retrospective multicenter case series.
Baba S, Okanishi T, Homma Y, Yoshida T, Goto T, Fukasawa T, Kobayashi S, Kamei A, Fujii Y, Hino-Fukuyo N, Yamada K, Daida A, Kawawaki H, Hoshino H, Sejima H, Ishida Y, Okazaki T, Inui T, Kanai S, Motoi H, Itamura S, Nishimura M, Enoki H, Fujimoto A. Baba S, et al. Epilepsia Open. 2021 May 28;6(2):402-412. doi: 10.1002/epi4.12497. eCollection 2021 Jun. Epilepsia Open. 2021. PMID: 34095686 Free PMC article.
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A, Kato M, Sugano H, Iimura Y, Suzuki H, Tohyama J, Fukuda M, Ito Y, Baba S, Okanishi T, Enoki H, Fujimoto A, Yamamoto A, Kawamura K, Kato S, Honda R, Ono T, Shiraishi H, Egawa K, Shirai K, Yamamoto S, Hayakawa I, Kawawaki H, Saida K, Tsuchida N, Uchiyama Y, Hamanaka K, Miyatake S, Mizuguchi T, Nakashima M, Saitsu H, Miyake N, Kakita A, Matsumoto N. Fujita A, et al. Among authors: baba s. Acta Neuropathol Commun. 2023 Mar 2;11(1):33. doi: 10.1186/s40478-023-01532-x. Acta Neuropathol Commun. 2023. PMID: 36864519 Free PMC article.
Intraventricular hemorrhage volume and younger age at surgery may be risk factors for postoperative hydrocephalus after hemispherotomy in children.
Yoshitomi M, Iijima K, Kosugi K, Takayama Y, Kimura Y, Kaneko Y, Kawashima T, Tachimori H, Sumitomo N, Baba S, Saito T, Nakagawa E, Morioka M, Iwasaki M. Yoshitomi M, et al. Among authors: baba s. J Neurosurg Pediatr. 2023 Dec 29;33(3):193-198. doi: 10.3171/2023.11.PEDS23408. Print 2024 Mar 1. J Neurosurg Pediatr. 2023. PMID: 38157528
2,893 results