Hiroshi Doi

Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease

Motomasa Tanaka, Yoko Machida, Sanyong Niu et al. · Nature Medicine · 2004 · 778 citations

Life Sciences, Neurology, Neuroscience +16

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi et al. · Nature Genetics · 2012 · 522 citations

Life Sciences, Genetics, Molecular Genetics +7

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

Jun Sone, Satomi Mitsuhashi, Atsushi Fujita et al. · Nature Genetics · 2019 · 509 citations

Life Sciences, Molecular Genetics, Neuroscience +14

Homozygous c.14576G&gt;A variant of <i>RNF213</i> predicts early-onset and severe form of moyamoya disease

Satoko Miyatake, Noriko Miyake, Hajime Touho et al. · Neurology · 2012 · 303 citations

Life Sciences, Genetics, Molecular Genetics +17

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma‐Lotta Lehtokari et al. · The American Journal of Human Genetics · 2013 · 224 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8