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 · 551 citations

Sodium Homeostasis, Genetics, Inherited Metabolic Disease +3

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 · 363 citations

Neurodegenerative Diseases, Peripheral Nerves, Genetic Disorder +8

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

Hereditary Motor, Neurobiology Of Disease, Dejerine–sottas Disease +14

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

Cardiac Muscle, Cardiomyopathy, Heart Failure +9

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 · 176 citations · Full text