Rumiko Takayama

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Aya Narita, Kentarou Shirai, Shinji Itamura et al. · Annals of Clinical and Translational Neurology · 2016 · 212 citations · Full text

<i>PIGA</i> mutations cause early-onset epileptic encephalopathies and distinctive features

Mitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami et al. · Neurology · 2014 · 103 citations

Long‐term course of <scp>D</scp>ravet syndrome: A study from an epilepsy center in <scp>J</scp>apan

Rumiko Takayama, Tateki Fujiwara, Hideo Shigematsu et al. · Epilepsia · 2014 · 83 citations

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

Keiko Shimojima, Midori Sugawara, Minobu Shichiji et al. · Journal of Human Genetics · 2011 · 82 citations · Full text

Loss-of-function Mutation, Genetic Disorder, Genetics +8

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome

Masako Sakauchi, Hirokazu Oguni, Ikuko Kato et al. · Epilepsia · 2011 · 79 citations · Full text