Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

by Hua-Xu Liu, Chuan-Qiang Pu, Qiang Shi, Yu-Tong Zhang, Rui Ban
Published 2018-01-01

Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy

by Yu-Tong Zhang, Chuan-Qiang Pu, Rui Ban, Hua-Xu Liu, Qiang Shi, Xiang-Hui Lu
Published 2018-01-01

Reply to “Mitochondrial tRNA Glutamic Acid Variant 14709T>C Manifesting as Myoclonic Epilepsy with Ragged Red Fibers”

by Rui Ban, Jun-Hong Guo, Chuan-Qiang Pu, Qiang Shi, Hua-Xu Liu, Yu-Tong Zhang
Published 2018-01-01

A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient

by Rui Ban, Jun-Hong Guo, Chuan-Qiang Pu, Qiang Shi, Hua-Xu Liu, Yu-Tong Zhang
Published 2018-01-01

Oculopharyngeal Weakness, Hypophrenia, Deafness, and Impaired Vision: A Novel Autosomal Dominant Myopathy with Rimmed Vacuoles

by Ting Chen, Xiang-Hui Lu, Hui-Fang Wang, Rui Ban, Hua-Xu Liu, Qiang Shi, Qian Wang, Xi Yin, Chuan-Qiang Pu
Published 2016-01-01