Mizue Iai

机构：Kanagawa Children's Medical Center

发表论文 58 篇 · 总被引 1274 次 · h-index 21

代表论文

• PIGA mutations cause early-onset epileptic encephalopathies and distinctive features (2014 · Neurology · 被引 104)
• Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy (2019 · Nature Communications · 被引 72)
• Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene (2015 · Journal of Neurology · 被引 58)
• Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy (2014 · Journal of Human Genetics · 被引 35)
• Japanese Leigh syndrome case treated with EPI-743 (2017 · Brain and Development · 被引 27)
• De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality (2021 · Human Molecular Genetics · 被引 26)