High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders
Kobayashi, Yu, Tohyama, Jun, Kato, Mitsuhiro, Akasaka, Noriyuki, Magara, Shinichi, Kawashima, Hideshi, Ohashi, Tsukasa, Shiraishi, Hideaki, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Brain & development (Tokyo. 1979) (01.03.2016)
Published in Brain & development (Tokyo. 1979) (01.03.2016)
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Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis
Hiraiwa, Akiko, Matsui, Kou, Nakayama, Yumi, Komatsubara, Takao, Magara, Shinichi, Kobayashi, Yu, Hojo, Moemi, Kato, Mitsuhiro, Yamamoto, Toshiyuki, Tohyama, Jun
Published in Brain & development (Tokyo. 1979) (01.03.2021)
Published in Brain & development (Tokyo. 1979) (01.03.2021)
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Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement
Hori, Ikumi, Otomo, Takanobu, Nakashima, Mitsuko, Miya, Fuyuki, Negishi, Yutaka, Shiraishi, Hideaki, Nonoda, Yutaka, Magara, Shinichi, Tohyama, Jun, Okamoto, Nobuhiko, Kumagai, Takeshi, Shimoda, Konomi, Yukitake, Yoshiya, Kajikawa, Daigo, Morio, Tomohiro, Hattori, Ayako, Nakagawa, Motoo, Ando, Naoki, Nishino, Ichizo, Kato, Mitsuhiro, Tsunoda, Tatsuhiko, Saitsu, Hirotomo, Kanemura, Yonehiro, Yamasaki, Mami, Kosaki, Kenjiro, Matsumoto, Naomichi, Yoshimori, Tamotsu, Saitoh, Shinji
Published in Scientific reports (14.06.2017)
Published in Scientific reports (14.06.2017)
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The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children
Magara, Shinichi, Komatsubara, Takao, Hojo, Moemi, Kobayashi, Yu, Yoshino, Mihoko, Saitoh, Akihiko, Tohyama, Jun
Published in Brain & development (Tokyo. 1979) (01.02.2019)
Published in Brain & development (Tokyo. 1979) (01.02.2019)
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Severe leukoencephalopathy with cortical involvement and peripheral neuropathy due to FOLR1 deficiency
Kobayashi, Yu, Tohyama, Jun, Akiyama, Tomoyuki, Magara, Shinichi, Kawashima, Hideshi, Akasaka, Noriyuki, Nakashima, Mitsuko, Saitsu, Hirotomo, Matsumoto, Naomichi
Published in Brain & development (Tokyo. 1979) (01.03.2017)
Published in Brain & development (Tokyo. 1979) (01.03.2017)
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Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy
Komatsubara, Takao, Kobayashi, Yu, Hiraiwa, Akiko, Magara, Shinichi, Hojo, Moemi, Ono, Takeshi, Okazaki, Kenichi, Fukuda, Masafumi, Tohyama, Jun
Published in Epilepsia open (01.06.2022)
Published in Epilepsia open (01.06.2022)
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De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders
Akita, Tenpei, Aoto, Kazushi, Kato, Mitsuhiro, Shiina, Masaaki, Mutoh, Hiroki, Nakashima, Mitsuko, Kuki, Ichiro, Okazaki, Shin, Magara, Shinichi, Shiihara, Takashi, Yokochi, Kenji, Aiba, Kaori, Tohyama, Jun, Ohba, Chihiro, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Annals of clinical and translational neurology (01.03.2018)
Published in Annals of clinical and translational neurology (01.03.2018)
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Journal Article
Megalencephaly, polymicrogyria and ribbon-like band heterotopia: A new cortical malformation
Kobayashi, Yu, Magara, Shinichi, Okazaki, Kenichi, Komatsubara, Takao, Saitsu, Hirotomo, Matsumoto, Naomichi, Kato, Mitsuhiro, Tohyama, Jun
Published in Brain & development (Tokyo. 1979) (01.11.2016)
Published in Brain & development (Tokyo. 1979) (01.11.2016)
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Gómez–López-Hernández syndrome in a Japanese patient: A case report
Kobayashi, Yu, Kawashima, Hideshi, Magara, Shinichi, Akasaka, Noriyuki, Tohyama, Jun
Published in Brain & development (Tokyo. 1979) (01.03.2015)
Published in Brain & development (Tokyo. 1979) (01.03.2015)
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Neuropsychiatric Disorder Associated with Group G Streptococcus Infection
Saitoh, Akihiko, Sakuma, Hiroshi, Tohyama, Jun, Magara, Shinichi, Ohashi, Tsukasa, Yamazaki, Sawako, Okumura, Rie, Hayashi, Masaharu
Published in Case reports in pediatrics (01.01.2018)
Published in Case reports in pediatrics (01.01.2018)
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Two Cases of Pseudohypoparathyroidism Type Ia in Duozygotic Twins with Different Phenotypes
Nagasaki, Keisuke, Shimomura, Yutaka, Suyama, Takayuki, Magara, Shinichi, Ogawa, Yohei, Hiura, Makoto, Kikuchi, Toru, Uchiyama, Makoto
Published in Clinical Pediatric Endocrinology (2005)
Published in Clinical Pediatric Endocrinology (2005)
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Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation
Ohashi, Tsukasa, Akasaka, Noriyuki, Kobayashi, Yu, Magara, Shinichi, Kawashima, Hideshi, Matsumoto, Naomichi, Saitsu, Hirotomo, Tohyama, Jun
Published in Epileptic disorders (01.06.2014)
Published in Epileptic disorders (01.06.2014)
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Journal Article
Neuropsychiatrie Disorder Associated with Group G Streptococcus Infection
Okumura, Rie, Yamazaki, Sawako, Ohashi, Tsukasa, Magara, Shinichi, Tohyama, Jun, Sakuma, Hiroshi, Hayashi, Masaharu, Saitoh, Akihiko
Published in Case reports in pediatrics (01.01.2018)
Published in Case reports in pediatrics (01.01.2018)
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Journal Article
Two Cases of Pseudohypoparathyroidism Type Ia in Duozygotic Twins with Different Phenotypes
Keisuke Nagasaki, Yutaka Shimomura, Takayuki Suyama, Shinichi Magara, Yohei Ogawa, Makoto Hiura, Toru Kikuchi, Makoto Uchiyama
Published in Clinical Pediatric Endocrinology (2005)
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Published in Clinical Pediatric Endocrinology (2005)
Journal Article
De novo variants in CAMK 2A and CAMK 2B cause neurodevelopmental disorders
Akita, Tenpei, Aoto, Kazushi, Kato, Mitsuhiro, Shiina, Masaaki, Mutoh, Hiroki, Nakashima, Mitsuko, Kuki, Ichiro, Okazaki, Shin, Magara, Shinichi, Shiihara, Takashi, Yokochi, Kenji, Aiba, Kaori, Tohyama, Jun, Ohba, Chihiro, Miyatake, Satoko, Miyake, Noriko, Ogata, Kazuhiro, Fukuda, Atsuo, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in Annals of clinical and translational neurology (01.03.2018)
Published in Annals of clinical and translational neurology (01.03.2018)
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Journal Article
Polymicrogyria with calcification in Pallister-Killian syndrome detected by microarray analysis
Hiraiwa, Akiko, Matsui, Kou, Nakayama, Yumi, Komatsubara, Takao, Magara, Shinichi, Kobayashi, Yu, Hojo, Moemi, Kato, Mitsuhiro, Yamamoto, Toshiyuki, Tohyama, Jun
Published in Brain & development (01.03.2021)
Published in Brain & development (01.03.2021)
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