Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Yang-Qi Xu"'
Publikováno v:
Chinese Journal of Contemporary Neurology and Neurosurgery, Vol 17, Iss 7, Pp 507-512 (2017)
Background Paroxysmal kinesigenic dyskinesia (PKD) is a disorder characterized by recurrent and brief dystonic or choreoathetoid attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. We aimed to investi
Externí odkaz:
https://doaj.org/article/124cd1cb4f0e4298b3ae23a676ec7d42
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 4, Pp 477-479 (2018)
Externí odkaz:
https://doaj.org/article/dd3a0b05576540e2b494e56c23e9874a
Publikováno v:
Jichu yixue yu linchuang, Vol 41, Iss 12, Pp 1724-1729 (2021)
Objective To explore the effect of over-expression of triggering receptor on dementia model after traumatic brain injury (TBI) in rat model and potential mechanism. Methods Rats were randomly divided into control group and TBI test groups of 2, 5, 7,
Externí odkaz:
https://doaj.org/article/444fd383ba0144faa03e4838d09bd4ee
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
Autor:
Yan Wang, Li Cao, Xiao-Li Liu, Sheng-Di Chen, Xiao-Jun Huang, Ze-Yu Zhu, Chao Zhang, Yang-Qi Xu, Hai-Yan Zhou, Wo-Tu Tian, Xing-Hua Luan, Fei-Xia Zhan
Publikováno v:
Clinical Neurophysiology. 129:2435-2441
Objective To unravel if there was muscular ion channel dysfunction in paroxysmal kinesigenic dyskinesia (PKD) patients using the exercises tests (ET). Methods Sixty PKD patients including 28 PRRT2 mutations carriers were enrolled in this study, as we
Autor:
Xiao-Li Liu, Xiao-Rong Liu, Yang-Qi Xu, Hui-Dong Tang, Xiao-Jun Huang, Xiao-Meng Yin, Xia-Nan Guo, Qing Liu, Sheng Zeng, Mei Zhang, Wo-Tu Tian, Sheng-Di Chen, Li Cao, Xiao Mao, Jun-Yi Shen, Beisha Tang, Wei-Guo Tang
Publikováno v:
Movement Disorders. 33:459-467
Background Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal dyskinesia. Approximately half of the cases of paroxysmal kinesigenic dyskinesia worldwide are attributable to proline-rich transmembrane protein 2 mutations. Objectiv
Publikováno v:
Chinese Medical Journal, Vol 131, Iss 4, Pp 477-479 (2018)
Chinese Medical Journal
Chinese Medical Journal
Autor:
Sheng-Di Chen, Li Cao, Hui-Dong Tang, Xiao-Jun Huang, Xiao-Li Liu, Ying Wang, Wo-Tu Tian, Xing-Hua Luan, Yang-Qi Xu, Hai-Yan Zhou
Publikováno v:
Seizure. 57
Purpose To describe the clinical and genetic features of a Chinese progressive myoclonus epilepsy (PME) patient related with SCARB2 mutation without renal impairment and review 27 SCARB2 -related PME patients from 11 countries. Methods The patient wa
Autor:
Wo-Tu, Tian, Xiao-Jun, Huang, Xiao, Mao, Qing, Liu, Xiao-Li, Liu, Sheng, Zeng, Xia-Nan, Guo, Jun-Yi, Shen, Yang-Qi, Xu, Hui-Dong, Tang, Xiao-Meng, Yin, Mei, Zhang, Wei-Guo, Tang, Xiao-Rong, Liu, Bei-Sha, Tang, Sheng-Di, Chen, Li, Cao
Publikováno v:
Movement disorders : official journal of the Movement Disorder Society. 33(3)
Paroxysmal kinesigenic dyskinesia is the most common type of paroxysmal dyskinesia. Approximately half of the cases of paroxysmal kinesigenic dyskinesia worldwide are attributable to proline-rich transmembrane protein 2 mutations.The objective of thi
Autor:
Yang-Qi Xu, Jian-Fang Ma, Wo-Tu Tian, Li Cao, Guanjun Li, Sheng-Di Chen, Xiao-Li Liu, Hui-Dong Tang, Jun-Yi Shen, Binyin Li, Rong Fang
Publikováno v:
Aging and Disease
Our study aimed to identify the underlying causes in patients with early onset dementia by clinical and genetic exploration. We recruited a group of 38 patients with early-onset dementia. Firstly, hexanucleotide repeat expansions in C9ORF72 gene were