Increased Expression of the NOD-like Receptor Family, Pyrin Domain Containing 3 Inflammasome in Dermatomyositis and Polymyositis is a Potential Contributor to Their Pathogenesis

por Yin, Xi, Han, Gen-Cheng, Jiang, Xing-Wei, Shi, Qiang, Pu, Chuan-Qiang
Publicado 2016

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

por Liu, Hua-Xu, Pu, Chuan-Qiang, Shi, Qiang, Zhang, Yu-Tong, Ban, Rui
Publicado 2018

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

por Ban, Rui, Guo, Jun-Hong, Pu, Chuan-Qiang, Shi, Qiang, Liu, Hua-Xu, Zhang, Yu-Tong
Publicado 2018

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

por Ban, Rui, Guo, Jun-Hong, Pu, Chuan-Qiang, Shi, Qiang, Liu, Hua-Xu, Zhang, Yu-Tong
Publicado 2018

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

por Zhang, Yu-Tong, Pu, Chuan-Qiang, Ban, Rui, Liu, Hua-Xu, Shi, Qiang, Lu, Xiang-Hui
Publicado 2018

A Novel AGRN Mutation Leads to Congenital Myasthenic Syndrome Only Affecting Limb-girdle Muscle

por Zhang, Ying, Dai, Yi, Han, Jing-Na, Chen, Zhao-Hui, Ling, Li, Pu, Chuan-Qiang, Cui, Li-Ying, Huang, Xu-Sheng
Publicado 2017

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

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

Chinese Specific Characteristics of Sporadic Creutzfeldt-Jakob Disease: A Retrospective Analysis of 57 Cases

por Zhao, Wei, Zhang, Jia-Tang, Xing, Xiao-Wei, Huang, De-Hui, Tian, Cheng-Lin, Jia, Wei-Quan, Huang, Xu-Sheng, Wu, Wei-Ping, Pu, Chuan-Qiang, Lang, Sen-Yang, Yu, Sheng-Yuan
Publicado 2013

HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy

por Li, Moyi, Zhuang, Yan, Batra, Ranjan, Thomas, James D., Li, Mao, Nutter, Curtis A., Scotti, Marina M., Carter, Helmut A., Wang, Zhan Jun, Huang, Xu-Sheng, Pu, Chuan Qiang, Swanson, Maurice S., Xie, Wei
Publicado 2020