2014年6月17日
;82 (24)
文章
扩大的表型TUBB4A相关hypomyelinating脑白质病
聪Miyatake,仁大阪,渡边Shiina,小松佐佐木,Jun-ichi Takanashi,Kazuhiro Haginoya,Takahito和田,正文森本晃司,Naoki安藤,跟Ikuta,这样中岛美嘉,manuscript Tsurusaki,Noriko宅一生,理事长绪方Kazuhiro,Naomichi松本,Hirotomo Saitsu
第一次出版2014年5月21日,
DOI: https://doi.org/10.1212/WNL.0000000000000535
聪Miyatake
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
仁大阪
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
渡边Shiina
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
小松佐佐木
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
Jun-ichi Takanashi
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
Kazuhiro Haginoya
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
Takahito和田
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
正文森本晃司
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
Naoki安藤
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
跟Ikuta
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
这样中岛美嘉
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
manuscript Tsurusaki
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
Noriko宅一生
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
理事长绪方Kazuhiro
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
Naomichi松本
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
Hirotomo Saitsu
从人类遗传学的部门(克里,M.N.,Y.T.,N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of Medicine; Division of Neurology (H.O.), Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama; Department of Pediatrics (H.O.), Jichi Medical School, Tochigi; Department of Child Neurology (M. Sasaki), National Center of Neurology and Psychiatry, Tokyo; Department of Pediatrics (J.-i.T.), Kameda Medical Center, Chiba; Department of Pediatric Neurology (K.H.), Takuto Rehabilitation Center for Children, Sendai; Genetic Counselling and Clinical Research Unit (T.W.), Kyoto University School of Public Health; Department of Pediatrics (M.M.), Graduate School of Medical Science, Kyoto Prefectural University of Medicine; Department of Neonatology and Pediatrics (N.A.), Nagoya City University Graduate School of Medical Sciences; and Department of Neurology (Y.I.), Tokyo Metropolitan Children's Medical Center, Japan.
扩大的表型TUBB4A相关hypomyelinating脑白质病
聪Miyatake,仁大阪,渡边Shiina,小松佐佐木,Jun-ichiTakanashi,KazuhiroHaginoya,Takahito和田,正文森本晃司,Naoki安藤,跟Ikuta,这样中岛美嘉,manuscript公司Tsurusaki,Noriko宅一生,KazuhiroOgata,Naomichi松本,HirotomoSaitsu
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2014年6月,
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DOI:10.1212 / WNL.0000000000000535
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