Zobrazeno 1 - 10
of 44
pro vyhledávání: '"Xiaohong Zi"'
Publikováno v:
Genetic Testing and Molecular Biomarkers. 22:398-402
Essential tremor (ET) is one of the most common adult-onset movement disorders. ET and Parkinson's disease (PD) overlap clinically and pathologically, which prompted this investigation into the association of PD risk variants in ET patients. This stu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bee1ef06bcba9065a124915208b6636
https://doi.org/10.1089/gtmb.2017.0277
https://doi.org/10.1089/gtmb.2017.0277
Autor:
Lei Liu, Xiaohong Zi, Yongzhi Xie, Yi-Zhou Yan, Ruxu Zhang, Zhengmao Hu, Beisha Tang, Xin Zhao, Mingming Jiang, Kun Xia, Xiaobo Li
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://explore.openaire.eu/search/publication?articleId=doi_dedup___::16dfe3724475e7382f3ad577b5f99f3e
https://doi.org/10.4103/0366-6999.222331
https://doi.org/10.4103/0366-6999.222331
Publikováno v:
Brain Research. 1662:57-64
Neurodegenerative disorders have attracted attention in last decades due to their high incidence in the world. The p53/miR-34a axis triggers apoptosis and suppresses viability in multiple types of cells, but little is known about its role in neurodeg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b56e4a96117d162c2e3c2b412a0ce723
https://doi.org/10.1016/j.brainres.2017.01.034
https://doi.org/10.1016/j.brainres.2017.01.034
Autor:
Kun Xia, Zhong-liang Hu, Xiurong Li, Xiaohong Zi, Bei Sha Tang, Lei Liu, Shunxiang Huang, Zhang Rx, Xin Zhao, Yongzhi Xie
Publikováno v:
Clinical Genetics. 91:881-891
The aim of this study is to explore the phenotypic and genotypic features of X-linked Charcot-Marie-Tooth (CMT) disease in the mainland of China and to study the cellular effects of six novel Gap junction protein beta-1 variants. We identified 25 mis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a24241652f93d02744bb046cc47e615
https://doi.org/10.1111/cge.12913
https://doi.org/10.1111/cge.12913
Publikováno v:
Neuroscience Letters. 643:131-137
Alzheimer's disease (AD), one of the most common neurodegenerative diseases, is characterized by extracellular deposition of amyloid-β (Aβ) peptide, and neuro-inflammatory processes mediated by microglial activation are known to play a pivotal role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22a5b70607e0f25b128fd3e501a7bad6
https://doi.org/10.1016/j.neulet.2017.02.017
https://doi.org/10.1016/j.neulet.2017.02.017
Publikováno v:
Neuromuscular Disorders. 27:193-199
IGHMBP2 mutations had been exclusively associated with spinal muscular atrophy with respiratory distress type I. However, increasing AR-CMT2S cases without respiratory failure caused by IGHMBP2 mutations have been reported in the past two years. We d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0a2f6ca115e86b496dcb56978a871a6
https://doi.org/10.1016/j.nmd.2016.11.008
https://doi.org/10.1016/j.nmd.2016.11.008
Autor:
Shunxiang Huang, Lei Liu, Xiaobo Li, Kun Xia, Xiaohong Zi, Yajin Zhan, Ruxu Zhang, Beisha Tang, Yongzhi Xie, Zhengmao Hu
Publikováno v:
Journal of the Peripheral Nervous System. 21:38-44
Charcot-Marie-Tooth disease 2A (CMT2A), caused by mutations in the mitofusin 2 gene (MFN2), is the most common CMT2 subtype. The aim of our study is to assess the frequency and summarize the genetic and clinical characteristics of Chinese CMT2A patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c629cf6ab87b01037845ad542a466675
https://doi.org/10.1111/jns.12159
https://doi.org/10.1111/jns.12159
Autor:
Xiaohong Zi, Zhengmao Hu, Ruxu Zhang, Xiaobo Li, Lixiang Wu, Lei Liu, Kun Xia, Yongzhi Xie, Yajing Zhan, Beisha Tang, Junling Wang
Publikováno v:
Neurology. 84:2430-2437
Objective: To identify the underlying genetic cause in a consanguineous Chinese family segregating distal hereditary motor neuropathy (dHMN) in an autosomal recessive pattern. Methods: We used whole-exome sequencing and homozygosity mapping to detect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19ca05e6a6f7fdac03b0635ce1fafc2a
https://doi.org/10.1212/wnl.0000000000001680
https://doi.org/10.1212/wnl.0000000000001680
Autor:
Zhengmao Hu, Lei Liu, Ying Peng, Yongzhi Xie, Yajing Zhan, Xiaobo Li, Xiaohong Zi, Ruxu Zhang, Lingqian Wu, Beisha Tang, Kun Xia, Mingming Jiang
Publikováno v:
Muscle & Nerve. 52:69-75
Introduction: Most cases of Charcot-Marie-Tooth (CMT) disease are caused by mutations in the peripheral myelin protein 22 gene (PMP22), including heterozygous duplications (CMT1A), deletions (HNPP), and point mutations (CMT1E). Methods: Single-nucleo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::905abe067ae11034d126a3e26d12ad64
https://doi.org/10.1002/mus.24550
https://doi.org/10.1002/mus.24550
Publikováno v:
Journal of Molecular Neuroscience. 55:815-820
The pathological mechanism of Alzheimer's disease (AD) needs to be elucidated. The Bcl-2 associated athanogene 5 (Bag5) is an important member in the Bag family. However, the role of Bag5 in AD has not yet been elucidated. In this study, we found tha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b0dfc64e92933067f456ea45430e90f
https://doi.org/10.1007/s12031-014-0433-1
https://doi.org/10.1007/s12031-014-0433-1