Ikuya Nonaka

机构：National Center of Neurology and Psychiatry

发表论文 738 篇 · 总被引 31511 次 · h-index 80

代表论文

• CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations (2020 · Acta Neuropathologica Communications · 被引 120)
• Biallelic Mutations in MYPN , Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy (2016 · The American Journal of Human Genetics · 被引 83)
• Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy (2017 · Human Molecular Genetics · 被引 70)
• A Nationwide Survey on Danon Disease in Japan (2018 · International Journal of Molecular Sciences · 被引 49)
• Psychiatric and neurodevelopmental aspects of Becker muscular dystrophy (2019 · Neuromuscular Disorders · 被引 48)
• Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy (2021 · Brain · 被引 42)