Search Results - "Anzai, Mai"

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome by Inui, Takehiko, Anzai, Mai, Takezawa, Yusuke, Endo, Wakaba, Kakisaka, Yosuke, Kikuchi, Atsuo, Onuma, Akira, Kure, Shigeo, Nishino, Ichizo, Ohba, Chihiro, Saitsu, Hirotomo, Matsumoto, Naomichi, Haginoya, Kazuhiro

“…Cerebral, ocular, dental, auricular, skeletal (CODAS) syndrome is a rare autosomal recessive multisystem disorder caused by mutations in LONP1. It is…”
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Leucine-485 deletion variant of BRAF may exhibit the severe end of the clinical spectrum of CFC syndrome by Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Nagai, Koki, Yamamura-Suzuki, Saeko, Anzai, Mai, Takezawa, Yusuke, Sato, Ryo, Okubo, Yukimune, Endo, Wakaba, Inui, Takehiko, Togashi, Noriko, Kikuchi, Atsuo, Niihori, Tetsuya, Aoki, Yoko, Kure, Shigeo, Haginoya, Kazuhiro

“…The genotype-phenotype correlation in BRAF variant in cardio-facio-cutaneous (CFC) syndrome is not clearly defined. Here we report a case with a severe…”
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Outcome of hemiplegic cerebral palsy born at term depends on its etiology by Kitai, Yukihiro, Haginoya, Kazuhiro, Hirai, Satori, Ohmura, Kayo, Ogura, Kaeko, Inui, Takehiko, Endo, Wakaba, Okubo, Yukimune, Anzai, Mai, Takezawa, Yusuke, Arai, Hiroshi

“…Abstract Objectives To elucidate the etiology and its relationship to the outcomes of hemiplegic cerebral palsy (HCP). Participants and methods MR images and…”
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Prolonged mild disturbance of consciousness and acute encephalopathy by Kanamori, Keita, Terashima, Hiroshi, Anzai, Mai, Ishiguro, Akira, Kubota, Masaya

“…Background Acute encephalopathy (AE) is defined by the Japanese guidelines as the acute disturbance of consciousness (Glasgow coma scale [GCS] score ≤11) that…”
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Genomic analysis identifies masqueraders of full‐term cerebral palsy by Takezawa, Yusuke, Kikuchi, Atsuo, Haginoya, Kazuhiro, Niihori, Tetsuya, Numata‐Uematsu, Yurika, Inui, Takehiko, Yamamura‐Suzuki, Saeko, Miyabayashi, Takuya, Anzai, Mai, Suzuki‐Muromoto, Sato, Okubo, Yukimune, Endo, Wakaba, Togashi, Noriko, Kobayashi, Yasuko, Onuma, Akira, Funayama, Ryo, Shirota, Matsuyuki, Nakayama, Keiko, Aoki, Yoko, Kure, Shigeo

“…Objective Cerebral palsy is a common, heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent studies have suggested…”
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First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations by Sato, Ryo, Inui, Takehiko, Endo, Wakaba, Okubo, Yukimune, Takezawa, Yusuke, Anzai, Mai, Morita, Hiroyuki, Saitsu, Hirotomo, Matsumoto, Naomichi, Haginoya, Kazuhiro

“…Abstract The clinical phenotypes of neuronal ceroid lipofuscinoses (NCLs) have been determined based on the age of onset and clinical symptoms. NCLs with onset…”
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Patchy white matter hyperintensity in ring chromosome 18 syndrome by Anzai, Mai, Arai‐Ichinoi, Natsuko, Takezawa, Yusuke, Endo, Wakaba, Inui, Takehiko, Sato, Ryo, Kikuchi, Atsuo, Uematsu, Mitsugu, Kure, Shigeo, Haginoya, Kazuhiro

“…Ring chromosome 18 syndrome is a chromosomal abnormality in which partial deletions occur at both ends of chromosome 18, that is, distally on the short and…”
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A patient with Muenke syndrome manifesting migrating neonatal seizures by Okubo, Yukimune, Kitamura, Taro, Anzai, Mai, Endo, Wakaba, Inui, Takehiko, Takezawa, Yusuke, Suzuki-Muromoto, Sato, Miyabayashi, Takuya, Togashi, Noriko, Oba, Hiroshi, Saitsu, Hirotomo, Matsumoto, Naomichi, Haginoya, Kazuhiro

“…We report a patient with Muenke syndrome who had repetitive apneic spell followed by focal status epilepticus in the early infancy. Ictal EEG showed focal…”
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The efficacy of lamotrigine for atypical absence status epilepticus in a case of perioral myoclonia with absence by Takezawa, Yusuke, Kakisaka, Yosuke, Wakusawa, Keisuke, Ishitobi, Mamiko, Hino-Fukuyo, Naomi, Inui, Takehiko, Endo, Wakaba, Anzai, Mai, Nakasato, Nobukazu, Haginoya, Kazuhiro

“…Perioral myoclonia with absences, which is currently not recognized officially by the International League Against Epilepsy classification, is generalized…”
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FDG-PET study of patients with Leigh syndrome by Haginoya, Kauzhiro, Kaneta, Tomohiro, Togashi, Noriko, Hino-Fukuyo, Naomi, Kobayashi, Tomoko, Uematsu, Mitsugu, Kitamura, Taro, Inui, Takehiko, Okubo, Yukimune, Takezawa, Yusuke, Anzai, Mai, Endo, Wakaba, Miyake, Noriko, Saitsu, Hirotomo, Matsumoto, Naomichi, Kure, Shigeo

“…Abstract We conducted a [18 F]fluorodeoxyglucose positron emission tomography (FDG-PET) study in five patients (median age 11 (range 4–13) years) with Leigh…”
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Patchy white matter hyperintensity in ring chromosome 18 syndrome by Anzai, Mai, Arai-Ichinoi, Natsuko, Takezawa, Yusuke, Endo, Wakaba, Inui, Takehiko, Sato, Ryo, Kikuchi, Atsuo, Uematsu, Mitsugu, Kure, Shigeo, Haginoya, Kazuhiro

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Patchy white matter hyperintensity in ring chromosome 18 syndrome by Anzai, Mai, Arai-Ichinoi, Natsuko, Takezawa, Yusuke, Endo, Wakaba, Inui, Takehiko, Sato, Ryo, Kikuchi, Atsuo, Uematsu, Mitsugu, Kure, Shigeo, Haginoya, Kazuhiro

“…Ring chromosome 18 syndrome is a chromosomal abnormality in which partial deletions occur at both ends of chromosome 18, that is, distally on the short and…”
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