Concepedia
Statistics
Publications
5
Citations
311
H-Index
Active since
2011
Affiliations
Utano Hospital(Current)
National Hospital Organization
Yokohama City University
Yamagata University
Shiga Medical Center for Children
Souichi Mukaida is an author at Utano Hospital specializing in molecular genetics, genetics, and neurogenetics.
Publications per year
2011–2018
<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
Medicine, Genetics, Neurology +17
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 · 84 citations
Medicine, Genetics, Molecular Genetics +10
De novo hotspot variants in <i>CYFIP2</i> cause early‐onset epileptic encephalopathy
Mitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto et al. · Annals of Neurology · 2018 · 83 citations
Life Sciences, Molecular Biology, Molecular Genetics +17
Anti-myelin oligodendrocyte glycoprotein (MOG) antibodies in a Japanese boy with recurrent optic neuritis
R. Tsuburaya, Naoki Miki, Keiko Tanaka et al. · Brain and Development · 2014 · 29 citations · Full text
Medicine, Immunology, Neurology +16
Japanese multiple epidermal growth factor 10 (MEGF10) myopathy with novel mutations: A phenotype–genotype correlation
K. Takayama, Satomi Mitsuhashi, Je-Young Shin et al. · Neuromuscular Disorders · 2016 · 23 citations
Life Sciences, Genetics, Molecular Genetics +10
1–5 of 5