Ryuki Hirano

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Keiko Kobayashi, David S. Sinasac, Mikio Iijima et al. · Nature Genetics · 1999 · 409 citations

Mitochondrial Biogenesis, Mitochondrial Function, Genetic Disorder +9

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

Ryuki Hirano, Heidrun Interthal, Cheng Huang et al. · The EMBO Journal · 2007 · 140 citations · Full text

Molecular Neuroscience, Neurological Disorder, Neuroanatomy +9

Early clinical signs and imaging findings in Gerstmann–Straussler–Scheinker syndrome (Pro102Leu)

H. Arata, Hiroshi Takashima, Ryuki Hirano et al. · Neurology · 2006 · 71 citations

<i>SET binding factor 2 (SBF2)</i> mutation causes CMT4B with juvenile onset glaucoma

Ryuki Hirano, Hiroshi Takashima, Fujio Umehara et al. · Neurology · 2004 · 42 citations

Genetics, Genetic Epidemiology, Molecular Biology +20

Suppression of Discoidin Domain Receptor 1 by RNA Interference Attenuates Lung Inflammation

Wataru Matsuyama, Masaki Watanabe, Yuko Shirahama et al. · The Journal of Immunology · 2006 · 38 citations