A novel homozygous mutation in ATP13A2 gene causing pure hereditary spastic paraplegiaPARKINSONISM & RELATED DISORDERSIF3.42021-05-013PREAI
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathyJOURNAL OF MEDICAL GENETICSIF3.72021-04-028OAAI
Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C MyopathyCHINESE MEDICAL JOURNALIF7.32018-12-206OAAI
Reply to Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red FibersCHINESE MEDICAL JOURNALIF7.32018-10-200OAAI
A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese PatientCHINESE MEDICAL JOURNALIF7.32018-07-058OAAI
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe DiseaseCHINESE MEDICAL JOURNALIF7.32018-02-202OAAI
Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed VacuolesCHINESE MEDICAL JOURNALIF7.32016-08-052OAAI
Metabolic and genetic factors affecting the productivity of pyrimidine nucleoside in Bacillus subtilisMicrobial Cell FactoriesIF4.92015-04-1547OAAI
Metabolic profiling analysis of the degradation of phenol and 4-chlorophenol by Pseudomonas sp cbp1-3BIOCHEMICAL ENGINEERING JOURNALIF3.82014-09-0120PREAI