A case of 49,XXXYY followed-up from infancy to adulthood with review of literature
Kanno, Junko, Miura, Akinobu, Kawashima, Sayaka, Shima, Hirohito, Suzuki, Dai, Kamimura, Miki, Fujiwara, Ikuma, Kamimura, Masayuki, Uematsu, Mitsugu, Kudo, Masataka, Kikuchi, Atsuo
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Published in Endocrine Journal (01.01.2024)
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Age-Related Recovery of Daily Living Activity After 1-Stage Complete Corpus Callosotomy: A Retrospective Analysis of 41 Cases
Ukishiro, Kazushi, Osawa, Shin-Ichiro, Iwasaki, Masaki, Kakisaka, Yosuke, Jin, Kazutaka, Uematsu, Mitsugu, Yamamoto, Tetsuya, Tominaga, Teiji, Nakasato, Nobukazu
Published in Neurosurgery (01.05.2022)
Published in Neurosurgery (01.05.2022)
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CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate
Suzuki, Toshimitsu, Tatsukawa, Tetsuya, Sudo, Genki, Delandre, Caroline, Pai, Yun Jin, Miyamoto, Hiroyuki, Raveau, Matthieu, Shimohata, Atsushi, Ohmori, Iori, Hamano, Shin-Ichiro, Haginoya, Kazuhiro, Uematsu, Mitsugu, Takahashi, Yukitoshi, Morimoto, Masafumi, Fujimoto, Shinji, Osaka, Hitoshi, Oguni, Hirokazu, Osawa, Makiko, Ishii, Atsushi, Hirose, Shinichi, Kaneko, Sunao, Inoue, Yushi, Moore, Adrian Walton, Yamakawa, Kazuhiro
Published in Scientific reports (17.05.2022)
Published in Scientific reports (17.05.2022)
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The Onset of Interictal Spike-Related Ripples Facilitates Detection of the Epileptogenic Zone
Numata-Uematsu, Yurika, Uematsu, Mitsugu, Sakuraba, Rie, Iwasaki, Masaki, Osawa, Shinichiro, Jin, Kazutaka, Nakasato, Nobukazu, Kure, Shigeo
Published in Frontiers in neurology (04.11.2021)
Published in Frontiers in neurology (04.11.2021)
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Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord
Uematsu, Mitsugu, Haginoya, Kazuhiro, Kikuchi, Atsuo, Hino-Fukuyo, Naomi, Ishii, Keiko, Shiihara, Takashi, Kato, Mitsuhiro, Kamei, Atsushi, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.10.2016)
Published in Brain & development (Tokyo. 1979) (01.10.2016)
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The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation
Abe, Yu, Aihara, Yu, Endo, Wakaba, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Uematsu, Mitsugu, Kure, Shigeo
Published in Molecular genetics and metabolism reports (01.03.2021)
Published in Molecular genetics and metabolism reports (01.03.2021)
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Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations
Inui, Takehiko, Kobayashi, Satoru, Ashikari, Yuka, Sato, Ryo, Endo, Wakaba, Uematsu, Mitsugu, Oba, Hiroshi, Saitsu, Hirotomo, Matsumoto, Naomichi, Kure, Shigeo, Haginoya, Kazuhiro
Published in Brain & development (Tokyo. 1979) (01.05.2016)
Published in Brain & development (Tokyo. 1979) (01.05.2016)
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Clinical profiles for seizure remission and developmental gains after total corpus callosotomy
Iwasaki, Masaki, Uematsu, Mitsugu, Hino-Fukuyo, Naomi, Osawa, Shin-ichiro, Shimoda, Yoshiteru, Jin, Kazutaka, Nakasato, Nobukazu, Tominaga, Teiji
Published in Brain & development (Tokyo. 1979) (01.01.2016)
Published in Brain & development (Tokyo. 1979) (01.01.2016)
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Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia
Hasegawa, Setsuko, Kumada, Satoko, Tanuma, Naoyuki, Tsuji-Hosokawa, Atsumi, Kashimada, Ayako, Mizuno, Tomoko, Moriyama, Kengo, Sugawara, Yuji, Shirai, Ikuko, Miyata, Yohane, Nishida, Hiroya, Mashimo, Hideaki, Hasegawa, Takeshi, Hosokawa, Takatoshi, Hisakawa, Hiroaki, Uematsu, Mitsugu, Fujine, Akio, Miyata, Rie, Sakuma, Hiroshi, Kashimada, Kenichi, Imai, Kohsuke, Morio, Tomohiro, Hayashi, Masaharu, Mizutani, Shuki, Takagi, Masatoshi
Published in Pediatric neurology (01.11.2019)
Published in Pediatric neurology (01.11.2019)
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Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation
Nakamura, Haruhiko, Uematsu, Mitsugu, Numata-Uematsu, Yurika, Abe, Yu, Endo, Wakaba, Kikuchi, Atsuo, Takezawa, Yusuke, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Niihori, Tetsuya, Aoki, Yoko, Haginoya, Kazuhiro, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.05.2018)
Published in Brain & development (Tokyo. 1979) (01.05.2018)
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Leigh syndrome-like MRI changes in a patient with biallelic HPDL variants treated with ketogenic diet
Numata-Uematsu, Yurika, Uematsu, Mitsugu, Yamamoto, Toshiyuki, Saitsu, Hirotomo, Katata, Yu, Oikawa, Yoshitsugu, Saijyo, Naoya, Inui, Takehiko, Murayama, Kei, Ohtake, Akira, Osaka, Hitoshi, Takanashi, Jun-ichi, Kure, Shigeo, Inoue, Ken
Published in Molecular genetics and metabolism reports (01.12.2021)
Published in Molecular genetics and metabolism reports (01.12.2021)
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Novel missense mutation in CLN8 in late infantile neuronal ceroid lipofuscinosis: The first report of a CLN8 mutation in Japan
Katata, Yu, Uematsu, Mitsugu, Sato, Hiroki, Suzuki, Sato, Nakayama, Tojo, Kubota, Yuki, Kobayashi, Tomoko, Hino-Fukuyo, Naomi, Saitsu, Hirotomo, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.03.2016)
Published in Brain & development (Tokyo. 1979) (01.03.2016)
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Reversible brain atrophy in glutaric aciduria type 1
Numata-Uematsu, Yurika, Sakamoto, Osamu, Kakisaka, Yosuke, Okubo, Yukimune, Oikawa, Yoshitsugu, Arai-Ichinoi, Natsuko, Kure, Shigeo, Uematsu, Mitsugu
Published in Brain & development (Tokyo. 1979) (01.06.2017)
Published in Brain & development (Tokyo. 1979) (01.06.2017)
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Clinical features and long-term outcome of a group of Japanese children with inflammatory central nervous system disorders and seropositivity to myelin-oligodendrocyte glycoprotein antibodies
Hino-Fukuyo, Naomi, Haginoya, Kazuhiro, Nakashima, Ichiro, Sato, Douglas Kazutoshi, Takahashi, Toshiyuki, Misu, Tatsuro, Fujihara, Kazuo, Hirose, Mieko, Kakisaka, Yosuke, Uematsu, Mitsugu, Kobayashi, Tomoko, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.10.2015)
Published in Brain & development (Tokyo. 1979) (01.10.2015)
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Patchy white matter hyperintensity in ring chromosome 18 syndrome
Anzai, Mai, Arai‐Ichinoi, Natsuko, Takezawa, Yusuke, Endo, Wakaba, Inui, Takehiko, Sato, Ryo, Kikuchi, Atsuo, Uematsu, Mitsugu, Kure, Shigeo, Haginoya, Kazuhiro
Published in Pediatrics international (01.09.2016)
Published in Pediatrics international (01.09.2016)
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Mucolipidosis IV: A milder form with novel mutations and serial MRI findings
Shiihara, Takashi, Watanabe, Mio, Moriyama, Kengo, Maruyama, Yasuhiro, Kikuchi, Atsuo, Arai-Ichinoi, Natsuko, Uematsu, Mitsugu, Sameshima, Kiyoko
Published in Brain & development (Tokyo. 1979) (01.09.2016)
Published in Brain & development (Tokyo. 1979) (01.09.2016)
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Acute encephalitis with refractory, repetitive partial seizures: Pathological findings and a new therapeutic approach using tacrolimus
Sato, Yuko, Numata-Uematsu, Yurika, Uematsu, Mitsugu, Kikuchi, Atsuo, Nakayama, Tojo, Kakisaka, Yosuke, Kobayashi, Tomoko, Hino-Fukuyo, Naomi, Suzuki, Hiroyoshi, Takahashi, Yukitoshi, Saito, Yoshiaki, Tanuma, Naoyuki, Hayashi, Masaharu, Iwasaki, Masaki, Haginoya, Kazuhiro, Kure, Shigeo
Published in Brain & development (Tokyo. 1979) (01.09.2016)
Published in Brain & development (Tokyo. 1979) (01.09.2016)
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Abdominal and lower back pain in pediatric idiopathic stabbing headache
Kakisaka, Yosuke, Ohara, Tomoichiro, Hino-Fukuyo, Naomi, Uematsu, Mitsugu, Kure, Shigeo
Published in Pediatrics (Evanston) (01.01.2014)
Published in Pediatrics (Evanston) (01.01.2014)
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Lateralization of interictal spikes after corpus callosotomy
Iwasaki, Masaki, Nakasato, Nobukazu, Kakisaka, Yosuke, Kanno, Akitake, Uematsu, Mitsugu, Haginoya, Kazuhiro, Tominaga, Teiji
Published in Clinical neurophysiology (01.11.2011)
Published in Clinical neurophysiology (01.11.2011)
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