Hirofumi Maruyama

Mutations of optineurin in amyotrophic lateral sclerosis

Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito et al. · Nature · 2010 · 1.2K citations

Amyotrophic Lateral Sclerosis, Neurological Disorder, Neurology +4

Safety and efficacy of rituximab in neuromyelitis optica spectrum disorders (RIN-1 study): a multicentre, randomised, double-blind, placebo-controlled trial

Masayuki Tahara, Tomoko Oeda, Kazumasa Okada et al. · The Lancet Neurology · 2020 · 347 citations

Ocular Disease, Ophthalmology, Eye Health +5

Molecular features of the CAG repeats and clinical manifestation of Machado--Joseph disease

Hirofumi Maruyama, Shinya Nakamura, Zenjiro Matsuyama et al. · Human Molecular Genetics · 1995 · 210 citations

Molecular Diagnostic Techniques, Mendelian Disorder, Cag Repeats +15

Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis

Taizo Sato, Kuniaki Seyama, Hiroaki Fujii et al. · Journal of Human Genetics · 2002 · 153 citations · Full text

Immunology, Pathology, Mutation Analysis +8

Type 2 Diabetes Mellitus in Obese Mouse Model Induced by Monosodium Glutamate

Mitsunobu Nagata, Wataru Suzuki, Seiichi Iizuka et al. · EXPERIMENTAL ANIMALS · 2006 · 144 citations · Full text

Obesity, Metabolic Syndrome, Body Composition +14