A Japanese Family of Spinocerebellar Ataxia Type 21: Clinical and Neuropathological Studies.

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第一作者： Hiroyuki,Yahikozawa

第一单位： Department of Neurology, Nagano Red Cross Hospital, 5-22-1 Wakasato, Nagano, 380-8582, Japan.

作者： Hiroyuki,Yahikozawa ^[1] ; Satoko,Miyatake ^[2] ; Toshiaki,Sakai ^[3] ; Takeshi,Uehara ^[4] ; Mitsunori,Yamada ^[5] ; Norinao,Hanyu ^[1] ; Yasuhiro,Futatsugi ^[6] ; Hiroshi,Doi ^[7] ; Shigeru,Koyano ^[7] ; Fumiaki,Tanaka ^[7] ; Atsushi,Suzuki ^[8] ; Naomichi,Matsumoto ^[2] ; Kunihiro,Yoshida ^[9]

作者单位： Department of Neurology, Nagano Red Cross Hospital, 5-22-1 Wakasato, Nagano, 380-8582, Japan. ^[1] Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. ^[2] Department of Neurology, Nagano Matsushiro General Hospital, 183 Matsushiro, Nagano, 381-1231, Japan. ^[3] Department of Pathology, Nagano Matsushiro General Hospital, 183 Matsushiro, Nagano, 381-1231, Japan. ^[4] Department of Brain Disease Research, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan. ^[5] Department of Rehabilitation, Nagano Red Cross Hospital, 5-22-1 Wakasato, Nagano, 380-8582, Japan. ^[6] Department of Neurology and Stroke Medicine, Yokohama City University Graduate School of Medicine, 3-9 Fukuura, Kanazawa-ku, Yokohama, 236-0004, Japan. ^[7] Molecular Cellular Biology Laboratory, Yokohama City University Graduate School of Medical Life Science, 1-7-29 Suehiro-cho, Tsurumi-ku, Yokohama, 230-0045, Japan. ^[8] Department of Brain Disease Research, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, 390-8621, Japan. kyoshida@shinshu-u.ac.jp. ^[9]

关键词 Cerebellar ataxia SCA21 TMEM240 Whole exome sequencing