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94 results

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Page 1
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. Among authors: togashi n. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
De novo KCNT1 mutations in early-onset epileptic encephalopathy.
Ohba C, Kato M, Takahashi N, Osaka H, Shiihara T, Tohyama J, Nabatame S, Azuma J, Fujii Y, Hara M, Tsurusawa R, Inoue T, Ogata R, Watanabe Y, Togashi N, Kodera H, Nakashima M, Tsurusaki Y, Miyake N, Tanaka F, Saitsu H, Matsumoto N. Ohba C, et al. Among authors: togashi n. Epilepsia. 2015 Sep;56(9):e121-8. doi: 10.1111/epi.13072. Epub 2015 Jul 3. Epilepsia. 2015. PMID: 26140313 Free article.
FDG-PET study of patients with Leigh syndrome.
Haginoya K, Kaneta T, Togashi N, Hino-Fukuyo N, Kobayashi T, Uematsu M, Kitamura T, Inui T, Okubo Y, Takezawa Y, Anzai M, Endo W, Miyake N, Saitsu H, Matsumoto N, Kure S. Haginoya K, et al. Among authors: togashi n. J Neurol Sci. 2016 Mar 15;362:309-13. doi: 10.1016/j.jns.2016.02.008. Epub 2016 Feb 4. J Neurol Sci. 2016. PMID: 26944169
A patient with Muenke syndrome manifesting migrating neonatal seizures.
Okubo Y, Kitamura T, Anzai M, Endo W, Inui T, Takezawa Y, Suzuki-Muromoto S, Miyabayashi T, Togashi N, Oba H, Saitsu H, Matsumoto N, Haginoya K. Okubo Y, et al. Among authors: togashi n. Brain Dev. 2017 Nov;39(10):873-876. doi: 10.1016/j.braindev.2017.05.007. Epub 2017 May 24. Brain Dev. 2017. PMID: 28551036
A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
Suzuki-Muromoto S, Wakusawa K, Miyabayashi T, Sato R, Okubo Y, Endo W, Inui T, Togashi N, Kato A, Oba H, Nakashima M, Saitsu H, Matsumoto N, Haginoya K. Suzuki-Muromoto S, et al. Among authors: togashi n. J Hum Genet. 2018 Jun;63(6):749-753. doi: 10.1038/s10038-018-0432-0. Epub 2018 Mar 19. J Hum Genet. 2018. PMID: 29556033
Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation.
Takeguchi R, Haginoya K, Uchiyama Y, Fujita A, Nagura M, Takeshita E, Inui T, Okubo Y, Sato R, Miyabayashi T, Togashi N, Saito T, Nakagawa E, Sugai K, Nakashima M, Saitsu H, Matsumoto N, Sasaki M. Takeguchi R, et al. Among authors: togashi n. Brain Dev. 2018 Sep;40(8):728-732. doi: 10.1016/j.braindev.2018.04.002. Epub 2018 Apr 23. Brain Dev. 2018. PMID: 29699863
Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms.
Endo W, Ikemoto S, Togashi N, Miyabayashi T, Nakajima E, Hamano SI, Shibuya M, Sato R, Takezawa Y, Okubo Y, Inui T, Kato M, Sengoku T, Ogata K, Hamanaka K, Mizuguchi T, Miyatake S, Nakashima M, Matsumoto N, Haginoya K. Endo W, et al. Among authors: togashi n. Brain Dev. 2020 Feb;42(2):199-204. doi: 10.1016/j.braindev.2019.10.006. Epub 2019 Nov 15. Brain Dev. 2020. PMID: 31735425
94 results