Mizue Iai

Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood

Chihiro Ohba, Hitoshi Osaka, Mizue Iai et al. · Neurogenetics · 2013 · 120 citations

Medicine, Neurology, Neuroscience +16

De Novo Mutations in<i>SLC35A2</i>Encoding a UDP-Galactose Transporter Cause Early-Onset Epileptic Encephalopathy

Hirofumi Kodera, Kazuyuki Nakamura, Hitoshi Osaka et al. · Human Mutation · 2013 · 108 citations

Medicine, Genetics, Molecular Genetics +17

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

Mitsuhiro Kato, Hirotomo Saitsu, Yoshiko Murakami et al. · Neurology · 2014 · 104 citations

Medicine, Genetics, Molecular Genetics +17

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy

Atsushi Takata, Mitsuko Nakashima, Hirotomo Saitsu et al. · Nature Communications · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene

Masayuki Sasaki, Chihiro Ohba, Mizue Iai et al. · Journal of Neurology · 2015 · 58 citations

Life Sciences, Genetics, Molecular Genetics +16