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    Article

    The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

    The newly recognized ataxia–ocular apraxia 1 (AOA1; MIM 208920)1,2,3,4 is the most frequent cause of autosomal recessive ataxia in Japan2,4,5,6,7,8,9 and is second only to Friedreich ataxia in Portugal10. It shar...

    Maria-Céu Moreira, Clara Barbot, Nobutada Tachi, Naoki Kozuka… in Nature Genetics (2001)

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    Article

    Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy

    Miyoshi myopathy (MM) is an adult onset, recessive inherited distal muscular dystrophy that we have mapped to human chromosome 2p13. We recently constructed a 3-Mb P1-derived artificial chromosome (PAC) contig...

    **g Liu, Masashi Aoki, Isabel Illa, Chenyan Wu, Michel Fardeau… in Nature Genetics (1998)

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    Article

    Mild ALS in Japan associated with novel SOD mutation

    Masahito Ogasawara, Yoichi Matsubara, Kuniaki Narisawa, Masashi Aoki… in Nature Genetics (1993)