Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Ru‐Xu Zhang"'
Publikováno v:
Chinese Medical Journal, Vol 133, Iss 21, Pp 2616-2618 (2020)
Externí odkaz:
https://doaj.org/article/aff949136c41435c987e8273a14491d4
Autor:
Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 2, Pp 151-155 (2018)
Background: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in
Externí odkaz:
https://doaj.org/article/fee17a5d887a41639c572b5efa7e0fbc
Autor:
Ru-xu ZHANG, Bei-sha TANG
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 17, Iss 8, Pp 566-572 (2017)
Charcot-Marie-Tooth disease (CMT) comprises a group of monogenic inherited peripheral neuropathies with highly clinical and genetic heterogeneity, more than 80 causative genes have been cloned at present. Usually starts in childhood or juvinile perio
Externí odkaz:
https://doaj.org/article/12832c1a6fd04e639126a45d9a13c813
Autor:
Chang‐Qing Gao, Shan‐Ni Wang, Mei‐Mei Wang, Jing‐Jing Li, Jiao‐Jiao Qiao, Juan‐Juan Huang, Xu‐Xiang Zhang, Ya‐Qin Xiang, Qian Xu, Jun‐Ling Wang, Zheng‐Hua Liu, Jian‐Gang Wang, Zhi‐Heng Chen, Ping‐An Hu, Zhi Song, Shao‐Juan Gu, Ru‐Xu Zhang, Li‐Fang Lei, Ke‐Bin Zhan, Yi‐Ting Long, Yang Zhang, Min Ye, Zhe Zhong, Yun‐Bo Liu, Chen Zhang, Zheng‐Ming He, Xiang Fang, Jian‐Guo Peng, Chun‐Yu Wang, Hui Xu, Bing‐Hua Xia, Lu Shen, Bei‐Sha Tang, Cui‐Wei Zheng, Ya‐An Li, Ji‐Feng Guo
Publikováno v:
Movement Disorders. 37:1807-1816
The diagnostic criteria for Parkinson's disease (PD) remain complex, which is especially problematic for nonmovement disorder experts. A test is required to establish a diagnosis of PD with improved accuracy and reproducibility.The study aimed to inv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4063f295a99d6b220cd1c6e79b029dd3
https://doi.org/10.1002/mds.29180
https://doi.org/10.1002/mds.29180
Autor:
Jin He, Xiao‐Xuan Liu, Ming‐Ming Ma, Jing‐Jing Lin, Jun Fu, Yi‐Kun Chen, Guo‐Rong Xu, Liu‐Qing Xu, Zhi‐Fei Fu, Dan Xu, Wen‐Feng Chen, Chun‐Yan Cao, Yan Shi, Yi‐Heng Zeng, Jing Zhang, Xiao‐Chun Chen, Ru‐Xu Zhang, Ning Wang, Marina Kennerson, Dong‐Sheng Fan, Wan‐Jin Chen
Publikováno v:
Annals of neurologyReferences.
Despite the increasing number of genes associated with Charcot-Marie-Tooth (CMT) disease, many patients currently still lack appropriate genetic diagnosis for this disease. Autosomal dominant mutations in aminoacyl-tRNA synthetases (ARSs) have been i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a94aaebeb3fb265fbe72b211e64e423
https://pubmed.ncbi.nlm.nih.gov/36088542
https://pubmed.ncbi.nlm.nih.gov/36088542
Autor:
Xin, Zhao, Ming-Ming, Jiang, Yi-Zhou, Yan, Lei, Liu, Yong-Zhi, Xie, Xiao-Bo, Li, Zheng-Mao, Hu, Xiao-Hong, Zi, Kun, Xia, Bei-Sha, Tang, Ru-Xu, Zhang
Publikováno v:
Chinese Medical Journal
Background: SH3TC2, PMP2, and BSCL2 genes are related to autosomal recessive (AR) Charcot-Marie-Tooth (CMT) disease type 1, autosomal dominant (AD)-CMT1, and AD-CMT2, respectively. Pathogenic variants in these three genes were not well documented in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1997d44fb9b03320d971b718fd4b5e8a
https://pubmed.ncbi.nlm.nih.gov/29336362
https://pubmed.ncbi.nlm.nih.gov/29336362
Autor:
Ru-xu, Zhang, Bei-sha, Tang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 29(5)
Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wastin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::89b8d999bec6b728e84fa934f1b93593
https://pubmed.ncbi.nlm.nih.gov/23042392
https://pubmed.ncbi.nlm.nih.gov/23042392
Autor:
Ya-jing, Zhan, Xiao-hong, Zi, Lin, Li, Xiao-bo, Li, Shun-xiang, Huang, Lan, Li, Xi-gui, Li, Zheng-mao, Hu, Qian, Pan, Kun, Xia, Bei-sha, Tang, Ru-xu, Zhang
Publikováno v:
Zhonghua yi xue za zhi. 92(21)
To analyze the mutation of CX32 gene and related clinical features in Chinese Han patients with Charcot-Marie-Tooth (CMT) disease.Thirty-four CMT families, from 2004 to 2011 at Departments of Neurology, Xiangya Hospital, Third Xiangya Hospital and Na
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3ce4c9ec6c810efbe711b5c75d1c2b6e
https://pubmed.ncbi.nlm.nih.gov/22944031
https://pubmed.ncbi.nlm.nih.gov/22944031
Autor:
Ru-xu, Zhang, Xi, Yang, Xiao-hong, Zi, Xiao-bo, Li, Kun, Xia, Ting, Liu, San-mei, Liu, Lin, Li, Ya-jing, Zhan, Lan, Li, Qian, Pan, Bei-sha, Tang
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(5)
To observe the cellular expression of (R127W) HSPB1 and its influence on neurofilament light chain (NFL) self-assembly and co-localization with NFL.Eukaryotic expression vectors pEGFPN1-(wt) HSPB1 and pEGFPN1- (R127W) HSPB1 were constructed. Hela cel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9a66c37475804e282fe73d98b5d1b684
https://pubmed.ncbi.nlm.nih.gov/21983720
https://pubmed.ncbi.nlm.nih.gov/21983720
Publikováno v:
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 28(5)
To study the effect of Charcot-Marie-Tooth 2L disease causing gene K141N mutation in heat shock protein B8 gene (HSPB8) on cell viability.By using liposome transfection technique, (wt)HSPB8, (K141N)HSPB8 eukaryotic expression vector and green fluores
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9422ce75e0b4e440bc8136c7d6838c8b
https://pubmed.ncbi.nlm.nih.gov/21983727
https://pubmed.ncbi.nlm.nih.gov/21983727