Toshinobu Matsuura

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Toshinobu Matsuura, James S. Sutcliffe, Ping Fang et al. · Nature Genetics · 1997 · 875 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations in the 4-Hydroxyphenylpyruvic Acid Dioxygenase Gene Are Responsible for Tyrosinemia Type III and Hawkinsinuria

Kaede Tomoeda, Hisataka Awata, Toshinobu Matsuura et al. · Molecular Genetics and Metabolism · 2000 · 96 citations

Life Sciences, Genetics, Molecular Genetics +11

Retrospective survey of urea cycle disorders: Part 1. Clinical and laboratory observations of thirty‐two Japanese male patients with ornithine transcarbamylase deficiency

Iwao Matsuda, Noriyuki Nagata, Toshinobu Matsuura et al. · American Journal of Medical Genetics · 1991 · 54 citations

Life Sciences, Biochemistry, Pediatrics +17

A “dystrophic” variant of autosomal recessive myotonia congenita caused by novel mutations in the <i>CLCN1</i> gene

Shinichiro Nagamitsu, Toshinobu Matsuura, Mehrdad Khajavi et al. · Neurology · 2000 · 48 citations

Life Sciences, Genetics, Molecular Genetics +14

Genetic mutations in exons 3 and 4 of the pancreatic secretory trypsin inhibitor in patients with pancreatitis

Kinuko Kuwata, Masahiko Hirota, Hiroki Sugita et al. · Journal of Gastroenterology · 2001 · 47 citations

Medicine, Genetics, Molecular Genetics +10