Nobuhiko Ochi

<i>MLL2</i> and <i>KDM6A</i> mutations in patients with Kabuki syndrome

Noriko Miyake, Eriko Koshimizu, Nobuhiko Okamoto et al. · American Journal of Medical Genetics Part A · 2013 · 174 citations · Full text

Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

Yukio Tanizawa, Kazuhiro Matsuda, Michinori Matsuo et al. · Diabetes · 2000 · 61 citations · Full text

Genetics, Genetic Epidemiology, Molecular Genetics +19

Nonketotic hyperglycinemia: Treatment with NMDA antagonist and consideration of neuropathogenesis

Yukihiro Ohya, Nobuhiko Ochi, Naoki Mizutani et al. · Pediatric Neurology · 1991 · 56 citations

Metabolic Syndrome, Neurophysiology, Medicine +8

Ser‐59 is the major phosphorylation site in αB‐crystallin accumulated in the brains of patients with Alexander's disease

Kanefusa Kato, Yutaka Inaguma, Hidenori Ito et al. · Journal of Neurochemistry · 2001 · 53 citations

Brain Extracts, Pathology, Neurochemical Biomarkers +16

Relationship between the skeletal muscle mass index and physical activity of Japanese children: A cross-sectional, observational study

Tadashi Ito, Hideshi Sugiura, Yuji Ito et al. · PLoS ONE · 2021 · 53 citations · Full text