Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Xing-wang SONG"'
Autor:
Si-Xiu Li, Na He, Jian-Xiang Liao, Xin-Guo Lu, Wen-Guang Hu, Xiao-Rong Liu, Wei-Ping Liao, Xing-Wang Song, Bin Li
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract The LONP1 gene encodes Lon protease, which is responsible for degrading damaged or misfolded proteins and binding mitochondrial DNA. Previously, LONP1 variants have been identified in patients with cerebral, ocular, dental, auricular, and sk
Externí odkaz:
https://doaj.org/article/fdc0c5b5768348d28439a1582f30355d
Autor:
Wen-Bin Li, Nan-Xiang Shen, Chao Zhang, Huan-Cheng Xie, Zong-Yan Li, Li Cao, Li-Zhi Chen, Yuan-jin Zeng, Cui-Xia Fan, Qian Chen, Yi-Wu Shi, Xing-Wang Song
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene and displays an inherited autosomal recessive pattern. In this study, we identified eight P
Externí odkaz:
https://doaj.org/article/4b3c1263d5d345f4a8900d051b8c1342
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 18, Iss 4, Pp 272-277 (2018)
Objective To investigate the features of clinical phenotype and gene mutation of progressive myoclonic epilepsy (PME). Methods and Results The main clinical features of a 43-year-old man were photosensitive seizures, progressive cerebellar ataxia and
Externí odkaz:
https://doaj.org/article/931cf8d175b143b796787c37a7b93759
Autor:
Wen‐Jun Zhang, Tao Su, Wei-Wen Deng, Min‐Zhi Zhuang, Xiao-Rong Liu, Ting-Ting Ye, Meng Xu, Xing-Wang Song, Jie Wang, Long‐Shan Xie, Yong-Hong Yi, Na He, Qian‐Yi Wu, Bing-Mei Li, Wei-Ping Liao, Shao‐Ping Huang, Yi-Wu Shi, Xuan Guo
Publikováno v:
CNS Neuroscience & Therapeutics
Aims CHD4 gene, encoding chromodomain helicase DNA‐binding protein 4, is a vital gene for fetal development. In this study, we aimed to explore the association between CHD4 variants and idiopathic epilepsy. Methods Trios‐based whole‐exome seque
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01e9aef620a0f65c89a70a3b14c3818f
http://europepmc.org/articles/PMC8446219
http://europepmc.org/articles/PMC8446219
Autor:
Wen-Bin, Li, Nan-Xiang, Shen, Chao, Zhang, Huan-Cheng, Xie, Zong-Yan, Li, Li, Cao, Li-Zhi, Chen, Yuan-Jin, Zeng, Cui-Xia, Fan, Qian, Chen, Yi-Wu, Shi, Xing-Wang, Song
Publikováno v:
Frontiers in aging neuroscience. 14
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder caused by mutations in the mitochondrial pantothenate kinase 2 (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::af65eb6545ab3bccb2be755a3d265cea
https://pubmed.ncbi.nlm.nih.gov/35462688
https://pubmed.ncbi.nlm.nih.gov/35462688
Autor:
Fei-Xia Zhan, Yan Wang, Yang-Qi Xu, Xing-wang Song, Li Cao, Wo-Tu Tian, Chao Zhang, Ze-Yu Zhu
Publikováno v:
Clinical Neurology and Neurosurgery. 177:92-96
Objectives To describe the clinical and genetic features of a Chinese peroxisome biogenesis disorder 6B patient with PEX10 mutations and review PEX10–related peroxisomal disorders. Patients and methods The proband is a 7-year-old boy with mild ment
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e35dd6cfb07ff77e1b65c62054704079
https://doi.org/10.1016/j.clineuro.2019.01.004
https://doi.org/10.1016/j.clineuro.2019.01.004
Publikováno v:
Zhongguo Dang Dai Er Ke Za Zhi
OBJECTIVE: To evaluate the efficacy and safety of cyclophosphamide as a second-line drug in the treatment of children with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis. METHODS: Six children with anti-NMDAR encephalitis, who showed poor re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cb7ae75759b8227476046531d391ebbd
https://pubmed.ncbi.nlm.nih.gov/28606234
https://pubmed.ncbi.nlm.nih.gov/28606234
Autor:
Bin Xiao, Xiang-Xiang Cui, Kun Xia, Zhi-gao Long, Xing-Wang Song, Hong Jiang, Lu Shen, Junling Wang, Xinxiang Yan, Lifang Lei, Qian Pan, Jifeng Guo, Beisha Tang
Publikováno v:
Movement Disorders. 24:2007-2011
To investigate the prevalence and clinical feature(s) of Parkinson's disease (PD) patients with expanded (ATXN2 and MJD1) genes of spinocerebellar ataxia type 2 and 3 (SCA2 and SCA3/MJD) in a mainland Chinese population, CAG triplet repeat expansions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7c53b475468485c8adb2a1c7fbf5eed5
https://doi.org/10.1002/mds.22727
https://doi.org/10.1002/mds.22727
Publikováno v:
Journal of Dispersion Science and Technology. 30:1015-1019
Synergistic effect for lowering interfacial tension in alkyl benzene sulfonates mixtures-alkane systems was studied by spinning drop tensiometer. The results show that surfactant mixtures of similar structure tend to give the same γmin for the same
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4efbfbe9327382582eccd760d8a1d234
https://doi.org/10.1080/01932690802701481
https://doi.org/10.1080/01932690802701481
Autor:
Mei-Mei Gao, Xing-Wang Song, Wei Di, Zhuo-Fang Hao, Wei-Ping Liao, Yi-Wu Shi, Yong-Hong Yi, Yu-liang Wang, Zhi-yong Zeng, Sheng-qiang Chen, Bin Tang, Yue-Sheng Long
Publikováno v:
neurogenetics. 12:93-95
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9ee5d75605e6481c6a2f297e5b10540
https://doi.org/10.1007/s10048-010-0258-1
https://doi.org/10.1007/s10048-010-0258-1