Goro Takada

Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter

Jun‐ichi Nezu, Ikumi Tamai, Asuka Oku et al. · Nature Genetics · 1999 · 559 citations

Life Sciences, Medicine, Genetics +10

Charcot–Marie–Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

Kiyoshi Hayasaka, Masato Himoro, Wataru Sato et al. · Nature Genetics · 1993 · 364 citations

Medicine, Genetics, Neurology +12

De novo mutation of the myelin Po gene in Dejerine–Sottas disease (hereditary motor and sensory neuropathy type III)

Kiyoshi Hayasaka, Masato Himoro, Yukio Sawaishi et al. · Nature Genetics · 1993 · 203 citations

Medicine, Genetics, Neurology +14

Genetic Epidemiology of the Carnitine Transporter OCTN2 Gene in a Japanese Population and Phenotypic Characterization in Japanese Pedigrees with Primary Systemic Carnitine Deficiency

Akio Koizumi, Jun-nichi Nozaki, T. Ohura et al. · Human Molecular Genetics · 1999 · 179 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy

Takayuki Ozawa, Masashi Tanaka, Satoru Sugiyama et al. · Biochemical and Biophysical Research Communications · 1990 · 176 citations

Life Sciences, Genetics, Molecular Genetics +12