Anna Cho
Seoul National University Bundang Hospital(KR)Medical University of Vienna(AT)
Publications by Year
Research Areas
Muscle Physiology and Disorders, Epilepsy research and treatment, Genetics and Neurodevelopmental Disorders, RNA Research and Splicing, Genomics and Rare Diseases
Most-Cited Works
- → Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders(2015)116 cited
- → Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice(2014)75 cited
- → Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy)(2013)66 cited
- → Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy(2017)65 cited
- → Clinical applications of next‐generation sequencing‐based gene panel in patients with muscular dystrophy: Korean experience(2015)50 cited
- → Pantothenate kinase‐associated neurodegeneration in Korea: recurrent R440P mutation in PANK2 and outcome of deep brain stimulation(2011)40 cited