論文 - 三木 康生
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A small trinucleotide expansion in the TBP gene gives rise to a sporadic case of SCA17 with abnormal putaminal findings on MRI.
Mitsunori Watanabe, Natsuki Monai, Mandy Jackson, Yukiko Yamamoto-Watanabe, Yoshio Ikeda, Chieko Suzuki, Masahiko Tomiyama, Takeshi Kawarabayashi, Tamaki Kimura, Yusuke Seino, Yasuhito Wakasaya, Yasuo Miki, Etsuro Matsubara, Mikio Shoji
Internal medicine (Tokyo, Japan) 47 ( 24 ) 2179 - 2182 2008年12月
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A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy.
Chieko Suzuki, Mitsunori Watanabe, Masahiko Tomiyama, Kazuhiro Sugimoto, Eiji Nanba, Mandy Jackson, Tamaki Kimura, Yusuke Seino, Yasuhito Wakasaya, Takeshi Kawarabayashi, Yasuo Miki, Yukiko Yamamoto-Watanabe, Mikio Shoji
European neurology 60 ( 6 ) 310 - 311 2008年10月