Area of research
Molecular Biology · Immunology and Allergy
Research interest
Research interests include Medicine, Muscular dystrophy, Genetics, Phenotype, Frameshift mutation, and LMNA.
uN2CpolyG-mediated p65 nuclear sequestration suppresses the NF-κB-NLRP3 pathway in neuronal intranuclear inclusion disease
<i>CACNA1S</i>-associated triadopathy presenting with myalgia, muscle weakness, and asymptomatic hyperCKemia
Encephalitis-like episodes with cortical edema and enhancement in patients with neuronal intranuclear inclusion disease
Lama1 upregulation prolongs the lifespan of the dyH/dyH mouse model of LAMA2-related congenital muscular dystrophy
<scp>CAG</scp> Repeat Expansion in <scp><i>THAP11</i></scp> Is Associated with a Novel Spinocerebellar Ataxia
Skin biopsy and neuronal intranuclear inclusion disease
The serum IgG antibody level as a biomarker for clinical outcome in patients with cerebral sparganosis after treatment
[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].
A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11
Clinical spectrum and genetic variations of <i>LMNA</i>-related muscular dystrophies in a large cohort of Chinese patients
Variants in <i>MME</i> are associated with autosomal‐recessive distal hereditary motor neuropathy
Phenotype–Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy
Genotype/phenotype analysis in Chinese laminin‐α2 deficient congenital muscular dystrophy patients