Area of research
Clinical Biochemistry · Cellular and Molecular Neuroscience
Research interest
Research interests include Metabolism and Genetic Disorders, Hereditary Neurological Disorders, Mitochondrial Function and Pathology, and Muscle Physiology and Disorders.
A novel splice‐site mutation in <scp>CHMP2B</scp> associated with frontotemporal dementia: The first report from China and literature review
Characterization of 31 Patients with Riboflavin-Responsive Multiple acyl-CoA Dehydrogenase Deficiency
Identification of Hub Genes and Biological Pathways in Inclusion Body Myositis Using Bioinformatics Analysis
DOAJ (DOAJ: Directory of Open Access Journals) 2022cited by 5position: middle
Case Report: A Novel Splice-Site Mutation in DNAJB6 Associated With Juvenile-Onset Proximal–Distal Myopathy in a Chinese Patient
MORC2 p.R252W Mutant Axonal Charcot–Marie–Tooth Disease Causes Peripheral Neuropathies and Pathological Myofiber Destruction
A case of reversible splenial lesion syndrome secondary to Fanconi syndrome with white matter swelling as the main manifestation
A family with riboflavin-reactive lipid deposition myopathy caused by a novel compound heterozygous mutation in the electron transfer flavoprotein dehydrogenase gene
Neutral lipid storage disease with myopathy presenting asymmetrical muscle weakness: a case report.
PubMed 2020cited by 2position: middle