Sumimasa Yamashita

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 · 226 citations · Full text

Life Sciences, Genetics, Neurology +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

Clinical spectrum of <i>SCN2A</i> mutations expanding to Ohtahara syndrome

Kazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka et al. · Neurology · 2013 · 196 citations

Life Sciences, Genetics, Molecular Genetics +17

Dominant mutations in ORAI1 cause tubular aggregate myopathy with hypocalcemia via constitutive activation of store-operated Ca2+ channels

Yukari Endo, S. Noguchi, Yuji Hara et al. · Human Molecular Genetics · 2014 · 170 citations · Full text

Life Sciences, Cell Biology, Physiology +17

Mutational analysis of familial and sporadic hyperekplexia

Rita Shiang, Stephen G. Ryan, Yazhen Zhu et al. · Annals of Neurology · 1995 · 128 citations

Life Sciences, Genetics, Molecular Genetics +13