Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency
Inui, Takehiko, Wada, Yoichi, Shibuya, Moriei, Arai-Ichinoi, Natsuko, Okubo, Yukimune, Endo, Wakaba, Uchida, Toshihiko, Togashi, Noriko, Naito, Etsuo, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.03.2022)
Published in Brain & development (Tokyo. 1979) (01.03.2022)
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Journal Article
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2
Narishige, Yuta, Yaoita, Hisao, Shibuya, Moriei, Ikeda, Miki, Kodama, Kaori, Kawashima, Aritomo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Tanaka, Soichiro, Kobayashi, Yasuko, Onuma, Akira, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (01.04.2022)
Published in The Tohoku Journal of Experimental Medicine (01.04.2022)
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Journal Article
Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature
Shibuya, Moriei, Togashi, Noriko, Inui, Takehiko, Okubo, Yukimune, Endo, Wakaba, Miyabayashi, Takuya, Sato, Ryo, Takezawa, Yusuke, Kodama, Kaori, Ikeda, Miki, Kawashima, Aritomo, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (01.01.2022)
Published in The Tohoku Journal of Experimental Medicine (01.01.2022)
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Journal Article
Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy
Togashi, Noriko, Fujita, Atsushi, Shibuya, Moriei, Uneoka, Saki, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Jin, Kazutaka, Matsumoto, Naomichi, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.10.2020)
Published in Brain & development (Tokyo. 1979) (01.10.2020)
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Journal Article
Two cases of persistent falcine and occipital sinuses
Inui, Takehiko, Shibuya, Moriei, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Togashi, Noriko, Shimanuki, Yoshihisa, Mori, Harushi, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.01.2021)
Published in Brain & development (Tokyo. 1979) (01.01.2021)
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Journal Article
A patient with early-onset SMAX3 and a novel variant of ATP7A
Shibuya, Moriei, Yaoita, Hisao, Kodama, Kaori, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.01.2022)
Published in Brain & development (Tokyo. 1979) (01.01.2022)
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Journal Article
The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy
Shibuya, Moriei, Shichiji, Minobu, Ikeda, Miki, Kodama, Kaori, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Nagao, Mika, Sato, Kaname, Sato, Takatoshi, Kanzaki, Masato, Segawa, Osamu, Masui, Kenta, Ishigaki, Keiko, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (01.01.2024)
Published in The Tohoku Journal of Experimental Medicine (01.01.2024)
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Journal Article
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, Wakaba, Ikemoto, Satoru, Togashi, Noriko, Miyabayashi, Takuya, Nakajima, Erika, Hamano, Shin-ichiro, Shibuya, Moriei, Sato, Ryo, Takezawa, Yusuke, Okubo, Yukimune, Inui, Takehiko, Kato, Mitsuhiro, Sengoku, Toru, Ogata, Kazuhiro, Hamanaka, Kohei, Mizuguchi, Takeshi, Miyatake, Satoko, Nakashima, Mitsuko, Matsumoto, Naomichi, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.02.2020)
Published in Brain & development (Tokyo. 1979) (01.02.2020)
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Journal Article
Reduced efficacy of perampanel in patients with severe motor and intellectual disabilities syndrome and drug-resistant epilepsy: A single-center analysis from Japan
Togashi, Noriko, Inui, Takehiko, Okubo, Yukimune, Endo, Wakaba, Shibuya, Moriei, Miyabayashi, Takuya, Sato, Ryo, Kodama, Kaori, Ikeda, Miki, Haginoya, Kazuhiro
Published in Epilepsy research (01.11.2021)
Published in Epilepsy research (01.11.2021)
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Journal Article
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
Okubo, Yukimune, Shibuya, Moriei, Nakamura, Haruhiko, Kawashima, Aritomo, Kodama, Kaori, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Aihara, Yu, Shirota, Matsuyuki, Funayama, Ryo, Niihori, Tetsuya, Fujita, Atsushi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kure, Shigeo, Kikuchi, Atsuo, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.10.2023)
Published in Brain & development (Tokyo. 1979) (01.10.2023)
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Journal Article
Multiple Cerebral Hemorrhages and White Matter Lesions Developing after Severe hMPV Pneumonia in a Patient with Trisomy 13: A Case Report and Review of the Literature
Shibuya, Moriei, Togashi, Noriko, Inui, Takehiko, Okubo, Yukimune, Endo, Wakaba, Miyabayashi, Takuya, Sato, Ryo, Takezawa, Yusuke, Kodama, Kaori, Ikeda, Miki, Kawashima, Aritomo, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (2022)
Published in The Tohoku Journal of Experimental Medicine (2022)
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Journal Article
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant
Shibuya, Moriei, Uneoka, Saki, Onuma, Akira, Kodama, Kaori, Endo, Wakaba, Okubo, Yukimune, Inui, Takehiko, Togashi, Noriko, Nakashima, Ichiro, Hino-Fukuyo, Naomi, Ida, Hiroyuki, Miyatake, Satoko, Matsumoto, Naomichi, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.11.2021)
Published in Brain & development (Tokyo. 1979) (01.11.2021)
Get full text
Journal Article
The Clinical Course and Treatment of a Case of Refractory Systemic Juvenile Myasthenia Gravis Successfully Treated with Thymectomy
Shibuya, Moriei, Shichiji, Minobu, Ikeda, Miki, Kodama, Kaori, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Nagao, Mika, Sato, Kaname, Sato, Takatoshi, Kanzaki, Masato, Segawa, Osamu, Masui, Kenta, Ishigaki, Keiko, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (2023)
Published in The Tohoku Journal of Experimental Medicine (2023)
Get full text
Journal Article
Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2
Narishige, Yuta, Yaoita, Hisao, Shibuya, Moriei, Ikeda, Miki, Kodama, Kaori, Kawahima, Aritomo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Tanaka, Soichiro, Kobayashi, Yasuko, Onuma, Akira, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro
Published in The Tohoku Journal of Experimental Medicine (2022)
Published in The Tohoku Journal of Experimental Medicine (2022)
Get full text
Journal Article
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A
Okubo, Yukimune, Shibuya, Moriei, Nakamura, Haruhiko, Kawashima, Aritomo, Kodama, Kaori, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Aihara, Yu, Shirota, Matsuyuki, Funayama, Ryo, Niihori, Tetsuya, Fujita, Atsushi, Nakayama, Keiko, Aoki, Yoko, Matsumoto, Naomichi, Kure, Shigeo, Kikuchi, Atsuo, Haginoya, Kazuhiro
Published in Brain & development (01.10.2023)
Published in Brain & development (01.10.2023)
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Intravenous ketogenic diet therapy for neonatal-onset pyruvate dehydrogenase complex deficiency
Inui, Takehiko, Wada, Yoichi, Shibuya, Moriei, Arai-Ichinoi, Natsuko, Okubo, Yukimune, Endo, Wakaba, Uchida, Toshihiko, Togashi, Noriko, Naito, Etsuo, Haginoya, Kazuhiro
Published in Brain & development (01.03.2022)
Published in Brain & development (01.03.2022)
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Report
A patient with early-onset SMAX3 and a novel variant of ATP7A
Shibuya, Moriei, Yaoita, Hisao, Kodama, Kaori, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Takayama, Jun, Tamiya, Gen, Kikuchi, Atsuo, Kure, Shigeo, Haginoya, Kazuhiro
Published in Brain & development (01.01.2022)
Published in Brain & development (01.01.2022)
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Report
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant
Shibuya, Moriei, Uneoka, Saki, Onuma, Akira, Kodama, Kaori, Endo, Wakaba, Okubo, Yukimune, Inui, Takehiko, Togashi, Noriko, Nakashima, Ichiro, Hino-Fukuyo, Naomi, Ida, Hiroyuki, Miyatake, Satoko, Matsumoto, Naomichi, Haginoya, Kazuhiro
Published in Brain & development (01.11.2021)
Published in Brain & development (01.11.2021)
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Fifteen-year follow-up of a patient with a DHDDS variant with non-progressive early onset myoclonic tremor and rare generalized epilepsy
Togashi, Noriko, Fujita, Atsushi, Shibuya, Moriei, Uneoka, Saki, Miyabayashi, Takuya, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Jin, Kazutaka, Matsumoto, Naomichi, Haginoya, Kazuhiro
Published in Brain & development (01.10.2020)
Published in Brain & development (01.10.2020)
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