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[会议论文] 作者：Zhi-Ying Wu,
来源：The 6th FAONS Congress and 11th Biennial Conference of CNS(第 年份：2015
Paroxysmal kinesigenic dyskinesia(PKD)is an autosomal dominant movement disorder with characteristics of involuntary attacks precipitated by sudden movements....
[期刊论文] 作者：Miao Xu,Zhi-Ying Wu,
来源：中华医学杂志（英文版） 年份：2015
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[期刊论文] 作者：Juan-Juan Xie,Zhi-Ying Wu,,
来源：Neuroscience Bulletin 年份：2017
Wilson’s disease(WD) is an autosomal recessive disorder of copper metabolism. Its incidence is higher in China than in western countries. ATP7 B is the causati...
[会议论文] 作者：Shi-Rui Gan,Zhi-Ying Wu,
来源：2009江苏省心血管病学学术会议 年份：2009
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[会议论文] 作者：Shi-Rui Gan,Zhi-Ying Wu,
来源：2009江苏省心血管病学学术会议 年份：2009
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EN-151 High frequency of Machado-Joseph disease was identified in Chinese kindreds with autosomal do
[会议论文] 作者：Shi-Rui Gan,Zhi-Ying Wu,
来源：第十二届全国神经病学学术会议 年份：2009
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[期刊论文] 作者：Yi Dong,Zhi-Ying WU,
来源：世界儿科杂志（英文版） 年份：2021
Hepatolenticular degeneration,also known as Wilson\'s dis-ease (WD),is an autosomal recessive disorder of copper dysfunction.The causative gene ATP7B encodes a copper transporting P-type ATPase,and the pathogenic mutations within ATP7B may ......
[期刊论文] 作者：Hong-Lei Li,Yan-Bin Zhang,Zhi-Ying Wu,,
来源：Neuroscience Bulletin 年份：2017
Huntington disease(HD) is a progressive autosomal dominantly inherited neurodegenerative disorder, characterized with the typical manifestations of involuntary...
Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family:coexistence of a PRRT2 m
[期刊论文] 作者：Hong-Fu Li,Wan-Jin Chen,Wang Ni,Zhi-Ying Wu,,
来源：Neuroscience Bulletin 年份：2014
Paroxysmal kinesigenic dyskinesia(PKD) and myotonia congenita(MC) are independent disorders that share some clinical features. We aimed to investigate the seque...
[期刊论文] 作者：Hong-Fu Li,Wan-Jin Chen,Wang Ni,Zhi-Ying Wu,
来源：神经科学通报（英文版） 年份：2014
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[会议论文] 作者：Hui-Ling Xiong,Qiao-Juan Zheng,Jian-Jun Wu,Yan Chen,Zhi-Ying Wu,
来源：2009江苏省心血管病学学术会议 年份：2009
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[期刊论文] 作者：Qi-Bing Liu,Zhen-Xin Li,Gui-Xian Zhao,Hai Yu,Zhi-Ying Wu,
来源：神经科学通报（英文版） 年份：2014
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[期刊论文] 作者：Qiu-shi Wang,Wei Zhang,Min Zhong,Jin-wen Ma,Zhi-ying Wu,Gui-qiang Wang,
来源：黑龙江科技信息 年份：2015
本文通过对荣华二采区10...
[会议论文] 作者：Ying Liu,Gui-Xian Zhao,Hai Yu,Chuan-Zhen Lv,Zhen-Xin Li,Zhi-Ying Wu,
来源：中华医学会第十七次全国神经病学学术会议 年份：2014
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Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsio
[期刊论文] 作者：Yulan Chen,Dianfu Chen,Shaoyun Zhao,Gonglu Liu,Hongfu Li,Zhi-Ying Wu,
来源：医学前沿 年份：2021
Proline-rich transmembrane protein 2(PRRT2)is the leading cause of paroxysmal kinesigenic dyskinesia(PKD),benign familial infantile epilepsy(BFIE),and infantile convulsions with choreoathetosis(ICCA).Reduced penetrance of PRRT2 has been obs......
Variants in the promoter region of CYP7A1 are associated with neuromyelitis optica but not with mult
[期刊论文] 作者：Gui-Xian Zhao,Ying Liu,Zhen-Xin Li,Chuan-Zhen Lv,Anthony Traboulsee,A.Dessa Sadovnick,Zhi-Ying Wu,,
来源：Neuroscience Bulletin 年份：2013
Multiple sclerosis(MS)and neuromyelitis optica(NMO)are common autoimmune demyelinating disorders of the central nervous system.The exact etiology of each remain...
A novel PCYT2 mutation identified in a Chinese consanguineous family with hereditary spastic paraple
[期刊论文] 作者：Qiao Wei,Wen-Jiao Luo,Hao Yu,Pei-Shan Wang,Hai-Lin Dong,Hong-Fu Li,Zhi-Ying Wu,
来源：遗传学报 年份：2021
Hereditary spastic paraplegia(HSP)is a rare neurodegenerative disease due to a length-dependent distal axonopathy of the cortico-spinal tract(Fink,2006).HSP has highly clinical heterogeneity and is classified into pure and complex forms acc......
[会议论文] 作者：Sushan Luo,Xin Cheng,Jia-hong Lu,Jie Lin,Kai Qiao,Chong-bo Zhao,Zhi-ying Wu,Yin Wang,
来源：The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie 年份：2013
Andersen-Tawil syndrome (ATS) is a rare muscle channelopathy associated with cardiac disturbances and dysmorphic features.Aim To investigate the phenotypes and genotypes of Chinese patients with ATS,...
Three-Dimensional Heterogeneity of Cerebellar Interposed Nucleus-Recipient Zones in the Thalamic Nuc
[期刊论文] 作者：Kuang-Yi Ma,Xin-Yu Cai,Xin-Tai Wang,Zhao-Xiang Wang,Wan-Meng Huang,Zhi-Ying Wu,Zhou-Yan Feng,Ying Shen,
来源：神经科学通报（英文版） 年份：2021
The cerebellum is conceptualized as a processor of complex movements and is also endowed with roles in cognitive and emotional behaviors.Although the axons of deep cerebellar nuclei are known to project to primary thalamic nuclei,macroscopi......
[期刊论文] 作者：Xiao-Yan Li,Yan-Bin Zhang,Miao Xu,Hong-Rong Cheng,Yi Dong,Wang Ni,Hong-Lei Li,Zhi-Ying Wu,
来源：神经科学通报（英文版） 年份：2019
Huntington\'s disease (HD) is an autosomal dominant degenerative disease that mainly encompasses movement,cognition,and behavioral symptoms.The apolipoprotein E (APOE) gene is thought to be associated with many neurodegenerative diseases.He......
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