Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Chuan Qiang Pu"'
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 13, Pp 1569-1574 (2018)
Background: Myoclonic epilepsy with ragged red fibers (MERRF) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle. T-to-C transition at nucleotide position 14709 in the mitochond
Externí odkaz:
https://doaj.org/article/96c7f518425545c7aadf4837d84f1db4
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 4, Pp 448-453 (2018)
Background: Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype cor
Externí odkaz:
https://doaj.org/article/9f169a28d9b4410f97331da6c807493d
Autor:
Ying Zhang, Yi Dai, Jing-Na Han, Zhao-Hui Chen, Li Ling, Chuan-Qiang Pu, Li-Ying Cui, Xu-Sheng Huang
Publikováno v:
Chinese Medical Journal, Vol 130, Iss 19, Pp 2279-2282 (2017)
Background: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous disorders caused by impaired neuromuscular transmission. The defect of AGRN was one of the causes of CMS through influencing the development an
Externí odkaz:
https://doaj.org/article/c08976ceeaa34795bab6750c50d01fe5
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 24, Pp 2986-2988 (2018)
Externí odkaz:
https://doaj.org/article/ee61e3e9412f4fdda4c221263b39f139
Autor:
Ting Chen, Xiang-Hui Lu, Hui-Fang Wang, Rui Ban, Hua-Xu Liu, Qiang Shi, Qian Wang, Xi Yin, Chuan-Qiang Pu
Publikováno v:
Chinese Medical Journal, Vol 129, Iss 15, Pp 1805-1810 (2016)
Background: Myopathies with rimmed vacuoles are a heterogeneous group of muscle disorders with progressive muscle weakness and varied clinical manifestations but similar features in muscle biopsies. Here, we describe a novel autosomal dominant myopat
Externí odkaz:
https://doaj.org/article/23d680d879704f7dba3425571bfedb06
Publikováno v:
Chinese Medical Journal, Vol 129, Iss 9, Pp 1047-1052 (2016)
Background: Dermatomyositis (DM) and polymyositis (PM) are common inflammatory myopathies whose immunopathogenic mechanisms remain poorly understood. The NOD-like receptor family, pyrin domain containing 3 (NLRP3) inflammasome is a type of cytoplasmi
Externí odkaz:
https://doaj.org/article/78ad104050be4fcbb4e5667ac37fac51
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 20, Pp 2519-2520 (2018)
Externí odkaz:
https://doaj.org/article/fed3ef382d954e4d9c633469a687c98b
Autor:
Jing Wu, Li Guo, Yong-Jun Wang, Qiang Dong, Xin Yang, Hao Wang, David Wang, Jing Jing, Hao Li, Shuo Wang, Chen Wang, Xia Meng, Hai-Bo Wang, Lin-Hong Wang, Yong Jiang, Li-Ping Liu, Yi-long Wang, An-ding Xu, Yi Yang, Zhong-Rong Miao, Ji-Zong Zhao, Tong Zhang, Bo Hu, Ning Wang, Peng Xie, Gang Zhao, Ying Shi, Hong-Qiu Gu, Zi-Xiao Li, Yi Zhai, Xing-Quan Zhao, Chun-Juan Wang, Bei-Sha Tang, Chang Yin, Chuan-Qiang Pu, Dong-Shen Fan, Dong Zhou, Jin-Sheng Zeng, Lan-Xia Gan, Li-Min Wang, Li-Ying Cui, Mei-Jia Zhu, Ming Lou, Tao Feng, Wen-Hua Zhao, Xu-Dong Ma, Xun-Ming Ji, Yi-Ming Deng, Yu-Ming Xu, Yu-Ping Wang, Xiao-Yuan Niu
Publikováno v:
Stroke and Vascular Neurology, Vol, Iss
China faces the greatest challenge from stroke in the world. The death rate for cerebrovascular diseases in China was 149.49 per 100 000, accounting for 1.57 million deaths in 2018. It ranked third among the leading causes of death behind malignant t
Autor:
Wei Zhao, Jia-Tang Zhang, Xiao-Wei Xing, De-Hui Huang, Cheng-Lin Tian, Wei-Quan Jia, Xu-Sheng Huang, Wei-Ping Wu, Chuan-Qiang Pu, Sen-Yang Lang, Sheng-Yuan Yu
Publikováno v:
PLoS ONE, Vol 8, Iss 3, p e58442 (2013)
ObjectiveSporadic Creutzfeldt-Jakob disease (sCJD) is a fatal and transmissible neurodegenerative disorder. However, no studies have reported Chinese specific characteristics of sCJD. We aimed to identify differences in sCJD between Chinese patients
Externí odkaz:
https://doaj.org/article/010f4af5ede546b6bb59d59cc65533a9
Autor:
Yan Zhuang, Zhan Jun Wang, Mao Li, Xu-Sheng Huang, Helmut A. Carter, Marina M. Scotti, Wei Xie, Moyi Li, James D. Thomas, Ranjan Batra, Chuan Qiang Pu, Maurice S. Swanson, Curtis A. Nutter
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America
Significance Myotonic dystrophy type 1 (DM1) is a model for RNA-mediated disease in microsatellite expansion disorders. DM1 is caused by CTG expansions (CTGexp) and expression of CUGexp RNAs that sequester muscleblind-like (MBNL) proteins, while also