Area of research
Epidemiology · Genetics
Research interest
Research interests include Spinal muscular atrophy, SMA*, Medicine, Biology, Motor neuron, and Neuroradiology.
Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2
Long-term impact of nusinersen on motor and electrophysiological outcomes in adolescent and adult spinal muscular atrophy: insights from a multicenter retrospective study
Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China
Diagnosis of Challenging Spinal Muscular Atrophy Cases with Long-Read Sequencing
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study