A novel mutation in the GNE gene and a linkage disequilibrium in Japanese pedigrees
Arai, Aki, Tanaka, Keiko, Ikeuchi, Takeshi, Igarashi, Shuichi, Kobayashi, Hisashi, Asaka, Tomoya, Date, Hidetoshi, Saito, Masaaki, Tanaka, Hajime, Kawasaki, Sari, Uyama, Eiichiro, Mizusawa, Hidehiro, Fukuhara, Nobuyoshi, Tsuji, Shoji
Published in Annals of neurology (01.10.2002)
Published in Annals of neurology (01.10.2002)
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Autosomal recessive spastic paraplegia with hypoplastic corpus callosum, multisystem degeneration and ubiquitinated eosinophilic granules
WAKABAYASHI, Koichi, KOBAYASHI, Hisashi, KAWASAKI, Sari, KONDO, Hiroshi, TAKAHASHI, Hitoshi
Published in Acta neuropathologica (2001)
Published in Acta neuropathologica (2001)
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Dandy–Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient
Tohyama, Jun, Kato, Mitsuhiro, Kawasaki, Sari, Harada, Naoki, Kawara, Hiroki, Matsui, Takeshi, Akasaka, Noriyuki, Ohashi, Tsukasa, Kobayashi, Yu, Matsumoto, Naomichi
Published in American journal of medical genetics. Part A (01.01.2011)
Published in American journal of medical genetics. Part A (01.01.2011)
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Linkage of autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum to chromosome 15q13-15
Shibasaki, Yoko, Tanaka, Hajime, Iwabuchi, Kiyoshi, Kawasaki, Sari, Kondo, Hiroshi, Uekawa, Kazutoshi, Ueda, Masayuki, Kamiya, Tatsushi, Katayama, Yasuo, Nakamura, Akinori, Takashima, Hiroshi, Nakagawa, Masanori, Masuda, Masayuki, Utsumi, Hiroya, Nakamuro, Takuya, Tada, Kazuo, Kurohara, Kazuhiro, Inoue, Ken, Koike, Fumihiko, Sakai, Tetsuo, Tsuji, Shoji, Kobayashi, Hisashi
Published in Annals of neurology (01.07.2000)
Published in Annals of neurology (01.07.2000)
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Journal Article
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient
Tohyama, Jun, Kato, Mitsuhiro, Kawasaki, Sari, Harada, Naoki, Kawara, Hiroki, Matsui, Takeshi, Akasaka, Noriyuki, Ohashi, Tsukasa, Kobayashi, Yu, Matsumoto, Naomichi
Published in American Journal of Medical Genetics Part A (01.01.2011)
Published in American Journal of Medical Genetics Part A (01.01.2011)
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