Shen-Xing Murong

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

Wan‐Jin Chen, Yu Lin, Zhi‐Qi Xiong et al. · Nature Genetics · 2011 · 477 citations

Transcriptional Regulation, Mendelian Disorder, Genetic Disorder +6

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

Zhiqiang Wang, Xuejiao Chen, Shen-Xing Murong et al. · Journal of Molecular Medicine · 2011 · 98 citations

Mendelian Disorder, Genetic Disorder, Common Etfdh Mutation +8

Molecular analysis of SMN1, SMN2, NAIP, GTF2H2, and H4F5 genes in 157 Chinese patients with spinal muscular atrophy

Jin He, Qi‐Jie Zhang, Qifang Lin et al. · Gene · 2013 · 56 citations

Genetic Disorder, Medicine, Genetics +9

Mutation analysis of 218 Chinese patients with Wilson disease revealed no correlation between the canine copper toxicosis gene MURR1 and Wilson disease

Zhi‐Ying Wu, Gui‐Xian Zhao, Wan‐Jin Chen et al. · Journal of Molecular Medicine · 2006 · 54 citations

Molecular Diagnostic Techniques, Genetics, Pathogenesis +6

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia

Shi‐Rui Gan, Sheng-Sheng Shi, Jian Wu et al. · BMC Medical Genetics · 2010 · 49 citations · Full text