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212 results

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Page 1
De novo ATP1A3 variants cause polymicrogyria.
Miyatake S, Kato M, Kumamoto T, Hirose T, Koshimizu E, Matsui T, Takeuchi H, Doi H, Hamada K, Nakashima M, Sasaki K, Yamashita A, Takata A, Hamanaka K, Satoh M, Miyama T, Sonoda Y, Sasazuki M, Torisu H, Hara T, Sakai Y, Noguchi Y, Miura M, Nishimura Y, Nakamura K, Asai H, Hinokuma N, Miya F, Tsunoda T, Togawa M, Ikeda Y, Kimura N, Amemiya K, Horino A, Fukuoka M, Ikeda H, Merhav G, Ekhilevitch N, Miura M, Mizuguchi T, Miyake N, Suzuki A, Ohga S, Saitsu H, Takahashi H, Tanaka F, Ogata K, Ohtaka-Maruyama C, Matsumoto N. Miyatake S, et al. Among authors: togawa m. Sci Adv. 2021 Mar 24;7(13):eabd2368. doi: 10.1126/sciadv.abd2368. Print 2021 Mar. Sci Adv. 2021. PMID: 33762331 Free PMC article.
Clinical and genetic characteristics of patients with Doose syndrome.
Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Hinokuma N, et al. Among authors: togawa m. Epilepsia Open. 2020 Jul 23;5(3):442-450. doi: 10.1002/epi4.12417. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913952 Free PMC article.
Effect of Intrathecal Baclofen on Delayed-Onset Paroxysmal Dystonia due to Compression Injury Resulting From Congenital and Progressive Spinal Bone Deformities in Chondrodysplasia Punctata.
Okazaki T, Saito Y, Ueda R, Sugihara S, Tamasaki A, Nishimura Y, Ohno K, Togawa M, Ohno T, Horie A, Honda M, Takenaka A, Nagashima H, Maegaki Y. Okazaki T, et al. Among authors: togawa m. Pediatr Neurol. 2016 Mar;56:80-85.e2. doi: 10.1016/j.pediatrneurol.2015.11.011. Epub 2015 Dec 13. Pediatr Neurol. 2016. PMID: 26777981
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
Narita A, Shirai K, Itamura S, Matsuda A, Ishihara A, Matsushita K, Fukuda C, Kubota N, Takayama R, Shigematsu H, Hayashi A, Kumada T, Yuge K, Watanabe Y, Kosugi S, Nishida H, Kimura Y, Endo Y, Higaki K, Nanba E, Nishimura Y, Tamasaki A, Togawa M, Saito Y, Maegaki Y, Ohno K, Suzuki Y. Narita A, et al. Among authors: togawa m. Ann Clin Transl Neurol. 2016 Feb 2;3(3):200-15. doi: 10.1002/acn3.292. eCollection 2016 Mar. Ann Clin Transl Neurol. 2016. PMID: 27042680 Free PMC article.
MECP2 duplication syndrome in both genders.
Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T. Shimada S, et al. Among authors: togawa m. Brain Dev. 2013 May;35(5):411-9. doi: 10.1016/j.braindev.2012.07.010. Epub 2012 Aug 9. Brain Dev. 2013. PMID: 22877836
Early predictors of status epilepticus-associated mortality and morbidity in children.
Maegaki Y, Kurozawa Y, Tamasaki A, Togawa M, Tamura A, Hirao M, Nagao A, Kouda T, Okada T, Hayashibara H, Harada Y, Urushibara M, Sugiura C, Sejima H, Tanaka Y, Matsuda-Ohtahara H, Kasai T, Kishi K, Kaji S, Toyoshima M, Kanzaki S, Ohno K; Status Epilepticus Study Group. Maegaki Y, et al. Among authors: togawa m. Brain Dev. 2015 May;37(5):478-86. doi: 10.1016/j.braindev.2014.08.004. Epub 2014 Sep 2. Brain Dev. 2015. PMID: 25193404
212 results