Masumi Ishikawa

A gene on <i>SCA4</i> locus causes dominantly inherited pure cerebellar ataxia

Utako Nagaoka, M. Takashima, Kinya Ishikawa et al. · Neurology · 2000 · 83 citations

Life Sciences, Genetics, Molecular Genetics +17

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in <i>CHST14</i> (mcEDS-<i>CHST14</i>)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki et al. · Journal of Medical Genetics · 2021 · 42 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Familial 14-Mb deletion at 21q11.2–q21.3 and variable phenotypic expression

Keiko Wakui, Atsushi Toyoda, Takeo Kubota et al. · Journal of Human Genetics · 2002 · 21 citations

Life Sciences, Genetics, Molecular Genetics +16

A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8

Tsuneaki Yoshinaga, Katsuya Nakamura, Masumi Ishikawa et al. · Human Genome Variation · 2017 · 18 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Local thrombolytic therapy for superior mesenteric artery embolism: complications and long-term clinical follow-up.

Toshio Yamaguchi, Mitsuru Saeki, Y Iwasaki et al. · PubMed · 1999 · 17 citations

Medicine, Internal Medicine, Surgery +14