Area of research
Molecular Biology · Cellular and Molecular Neuroscience
Research interest
Research interests include Medicine, Genetics, Biology, Myopathy, Cohort, and Internal medicine.
Translation of GGC repeats into a toxic polyglycine protein in oculopharyngodistal myopathy type 2
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
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
Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
Plasma exchange versus intravenous immunoglobulin in AChR subtype myasthenic crisis: A prospective cohort study
High-risk screening of late-onset Pompe disease: A different early portrait in China
Molecular landscape of<i>DYSF</i>mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
5′ UTR CGG repeat expansion in<i>GIPC1</i>is associated with oculopharyngodistal myopathy
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
LIMB GIRDLE MUSCULAR DYSTROPHIES
Congenital muscular dystrophies in China
Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies
Congenital muscular dystrophy with fatty liver and infantile-onset cataract caused by TRAPPC11 mutations: broadening of the phenotype
Clinical features and <i>ETFDH</i> mutation spectrum in a cohort of 90 Chinese patients with late‐onset multiple acyl‐CoA dehydrogenase deficiency