Shen-Xing Murong
Fujian Medical University(CN)First Affiliated Hospital of Fujian Medical University(CN)
Publications by Year
Research Areas
Neurogenetic and Muscular Disorders Research, Muscle Physiology and Disorders, RNA modifications and cancer, RNA Research and Splicing, Genetic Neurodegenerative Diseases
Most-Cited Works
- → Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia(2011)477 cited
- → Molecular analysis of 51 unrelated pedigrees with late-onset multiple acyl-CoA dehydrogenation deficiency (MADD) in southern China confirmed the most common ETFDH mutation and high carrier frequency of c.250G>A(2011)98 cited
- → Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy(2013)57 cited
- → Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease(2006)54 cited
- → High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia(2010)50 cited
- → Novel SLC20A2 mutations identified in southern Chinese patients with idiopathic basal ganglia calcification(2013)46 cited
- → A novel mutation in thesenataxingene identified in a Chinese patient with sporadic amyotrophic lateral sclerosis(2008)42 cited
- → Molecular Diagnosis and Prophylactic Therapy for Presymptomatic Chinese Patients With Wilson Disease(2003)40 cited
- → New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy(2015)32 cited
- → Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing(2013)24 cited