Muneaki Matsuo

Mutations of Neuronal Voltage‐gated Na⁺ Channel α1 Subunit Gene <i>SCN1A</i> in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB)

Goryu Fukuma, Hirokazu Oguni, Yukiyoshi Shirasaka et al. · Epilepsia · 2004 · 187 citations

Life Sciences, Genetics, Molecular Genetics +17

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

Muneaki Matsuo, Masami Togawa, Keiko Hirabaru et al. · Molecular Genetics and Metabolism · 2012 · 137 citations

Medicine, Medicinal Chemistry, Pharmacology +5

HPGCD Outperforms HPBCD as a Potential Treatment for Niemann-Pick Disease Type C During Disease Modeling with iPS Cells

Minami Soga, Yoichi Ishitsuka, Makoto Hamasaki et al. · Stem Cells · 2014 · 101 citations

Life Sciences, Biochemistry, Cell Biology +17

De novo <i>GABRA1</i> mutations in Ohtahara and West syndromes

Hirofumi Kodera, Chihiro Ohba, Mitsuhiro Kato et al. · Epilepsia · 2016 · 92 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Frequent association of autism spectrum disorder in patients with childhood onset epilepsy

Muneaki Matsuo, Toshiyuki Maeda, Kazuya Sasaki et al. · Brain and Development · 2010 · 88 citations

Medicine, Pediatrics, Psychiatry +15