Mitsuko Nakashima

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Hirotomo Saitsu, Taki Nishimura, Kazuhiro Muramatsu et al. · Nature Genetics · 2013 · 471 citations

Cell Autophagy, Neurodegenerative Diseases, Mitophagy +10

Human genetic variation database, a reference database of genetic variations in the Japanese population

Koichiro Higasa, Noriko Miyake, Jun Yoshimura et al. · Journal of Human Genetics · 2016 · 294 citations · Full text

A SNP in the ABCC11 gene is the determinant of human earwax type

Koh-ichiro Yoshiura, Akira Kinoshita, Takafumi Ishida et al. · Nature Genetics · 2006 · 292 citations · Full text

Allelic Variant, Genetic Disorder, Natural Sciences +10

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

Kazuyuki Nakamura, Hirofumi Kodera, Tenpei Akita et al. · The American Journal of Human Genetics · 2013 · 228 citations · Full text

G Protein-coupled Receptor, Genetic Disorder, Genetics +8

Clinical spectrum of early onset epileptic encephalopathies caused by <scp><i>KCNQ2</i></scp> mutation

Mitsuhiro Kato, Takanori Yamagata, Masaya Kubota et al. · Epilepsia · 2013 · 222 citations · Full text