Mitsugu Uematsu

<i><scp>GRIN</scp>1</i> mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders

Chihiro Ohba, Masaaki Shiina, Jun Tohyama et al. · Epilepsia · 2015 · 92 citations · Full text

Acute encephalopathy in children with Dravet syndrome

Akihisa Okumura, Mitsugu Uematsu, George Imataka et al. · Epilepsia · 2011 · 67 citations · Full text

Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases

Tetsuro Matsuhashi, Takeya Sato, Shin‐ichiro Kanno et al. · EBioMedicine · 2017 · 67 citations · Full text

Mitophagy, Molecular Biology, Mitochondrial Atp Production +20

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

Naomi Hino‐Fukuyo, Atsuo Kikuchi, Natsuko Arai‐Ichinoi et al. · Human Genetics · 2015 · 62 citations

Mendelian Disorder, Autoimmune Disease, Genomic Analysis Identifies +14

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome

Tojo Nakayama, Ikuo Ogiwara, Koichi Ito et al. · Human Mutation · 2010 · 57 citations