Skip to main content

5 Result(s)

within Masashi Aoki Remove this filter Biomedicine, general Remove this filter

and

  1. No Access

    Article

    Modeling sporadic ALS in iPSC-derived motor neurons identifies a potential therapeutic agent

    Amyotrophic lateral sclerosis (ALS) is a heterogeneous motor neuron disease for which no effective treatment is available, despite decades of research into SOD1-mutant familial ALS (FALS). The majority of ALS pat...

    Koki Fujimori, Mitsuru Ishikawa, Asako Otomo, Naoki Atsuta… in Nature Medicine (2018)

  2. Article

    Open Access

    Phase I clinical trial results of aceneuramic acid for GNE myopathy in Japan

    GNE myopathy (distal myopathy with rimmed vacuoles) is a rare intractable muscle disease caused by the mutations in GNE gene, with no therapeutic agents at present. The mutations in GNE (UDP-N-acetylglucosamine 2...

    Naoki Suzuki, Masaaki Kato, Hitoshi Warita… in Translational Medicine Communications (2018)

    Download PDF (1354 KB) View Article

  3. No Access

    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)

  4. No Access

    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)

  5. No Access

    Article

    Mild ALS in Japan associated with novel SOD mutation

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