Michie Shimmoto

Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

Hitoshi Sakuraba, Akihiko Oshima, Y Fukuhara et al. · PubMed · 1990 · 137 citations

Life Sciences, Genetics, Molecular Genetics +11

Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.

Kunihiro Yoshida, Akihiko Oshima, Michie Shimmoto et al. · PubMed · 1991 · 109 citations

Life Sciences, Genetics, Molecular Genetics +11

Human beta-galactosidase gene mutations in morquio B disease.

Akihiko Oshima, Kunihiro Yoshida, Michie Shimmoto et al. · PubMed · 1991 · 83 citations

Life Sciences, Genetics, Molecular Genetics +6

Endothelin-1 in the brain of patients with galactosialidosis: Its abnormal increase and distribution pattern

Kohji Itoh, Kiyomitsu Oyanagi, Hitoshi Takahashi et al. · Annals of Neurology · 2000 · 76 citations · Full text

Life Sciences, Neurology, Neuroscience +11

Protective protein gene mutations in galactosialidosis.

Michie Shimmoto, Y Fukuhara, Kohji Itoh et al. · Journal of Clinical Investigation · 1993 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15