SPINOCEREBELLAR

作品数：8被引量：4H指数：1
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相关领域：医药卫生更多>>
相关作者：梁秀龄张基伟李洵桦裴中吴超更多>>
相关机构：中山医科大学中山大学附属第一医院首都医科大学更多>>
相关期刊：《Current Medical Science》《Neuroscience Bulletin》《High Technology Letters》《Journal of Biosciences and Medicines》更多>>
相关基金：国家自然科学基金更多>>
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A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex
《Neuroscience Bulletin》2024年第10期1489-1501,共13页Han-Kui Liu Hong-Lin Hao Hui You Feng Feng Xiu-Hong Qi Xiao-Yan Huang Bo Hou Chang-Geng Tian Han Wang Huan-Ming Yang Jian Wang Rui Wu Hui Fang Jiang-Ning Zhou Jian-Guo Zhang Zhen-Xin Zhang 
supported by the NIH-NIA Research Project (R21AG036454);the National Key R&D Program of China (2016YFC0901500);CAMS Innovation Fund for Medical Sciences (2016-12M-1-004);the National Key R&D Program of China (2016YFC1305900);the National Natural Science Foundation of China (3203004);the Strategic Priority Research Program of the Chinese Academy of Sciences (XDB02030001);Shenzhen Municipal of Government of China (JCYJ20170412153248372 and JCYJ20180507183615145).
This study aimed to identify possible pathogenic genes in a 90-member family with a rare combination of multiple neurodegenerative disease phenotypes,which has not been depicted by the known neurodegenerative disease....
关键词：PARKINSONISM Spinocerebellar ataxia CARS gene 
Role of Mutant TBP in Regulation of Myogenesis on Muscle Satellite Cells被引量：1
《Current Medical Science》2019年第5期734-740,共7页Dong-ming ZHAO Sui-qiang ZHU Fu-rong WANG Shan-shan HUANG 
This project was supported by grants from the fundamental Research Funds for the Central Universities(No.2019kfyXKJC075);National Key R&D Program of China(No.2017YFC1310000);National Natural Science Foundation of China(No.81671064,and No.81371222).
In polyglutamine(PolyQ)diseases,mutant proteins cause not only neurological problems but also peripheral tissue abnormalities.Among all systemic damages,skeletal muscle dystrophy is the severest.Previously by studying...
关键词：TATA box binding protein SPINOCEREBELLAR ATAXIA 17 MYOBLAST MYOGENESIS 
Nerve Growth Factor for the Treatment of Spinocerebellar Ataxia Type 3： An Open-label Study被引量：2
《Chinese Medical Journal》2015年第3期291-294,共4页Song Tan Rui-Hao Wang Hui-Xia Niu Chang-He Shi Cheng-Yuan Mao Rui Zhang Bo Song Shi-Lei Sun Xin-Jing Liu Hai-Man Hou Yu-Tao Liu Yuan Gag Hui Fang Xiang-Dong Kong Yu-Ming Xu 
This study was supported by grants from the National Natural Science Foundation of China grant，The Innovation Team Fund of the First Affiliated Hospital of Zhengzhou University and the National Natural Science Foundation of China
Background： Spinocerebellar ataxia type 3 （SCA3） is the most common subtype of SCA worldwide, and runs a slowly progressive and unremitting disease course. There is currently no curable treatment available. Growing...
关键词：Nerve Growth Factor Open-label Study Spinocerebellar Ataxia Type 3 Scale for Assessment and Rating of Ataxia 
Data Classification with Modified Density Weighted Distance Measure for Diffusion Maps
《Journal of Biosciences and Medicines》2014年第4期12-18,共7页Ko-Kung Chen Chih-I Hung Bing-Wen Soong Hsiu-Mei Wu Yu-Te Wu Po-Shan Wang 
Clinical data analysis is of fundamental importance, as classifications and detailed characterizations of diseases help physicians decide suitable management for patients, individually. In our study, we adopt diffusio...
关键词：DIFFUSION MAPS DENSITY Estimation SPINOCEREBELLAR ATAXIA 
Spinocerebellar Ataxia with Oculomotor Apraxia and Severe Corneal Astigmatism
《Open Journal of Ophthalmology》2013年第2期33-36,共4页Paola Michieletto Andrea Martinuzzi Stefano Pensiero 
Purpose: To disclose the association between spinocerebellar ataxia with oculomotor apraxia and high grade (7 diopters) congenital astigmatism. Methods: Single observational case report. A 39-year-old patient affected...
关键词：SPINOCEREBELLAR ATAXIA OCULOMOTOR APRAXIA CORNEAL ASTIGMATISM 
Molecular Cloning and Localization of Human Ataxin2-like Gene
《High Technology Letters》1998年第2期102-106,共5页夏家辉 
Through analysis of EST database, a 1,226bp cDNA assembled from 8 ESTs with significant similarity to human spinocerebellar ataxia2 gene(ataxin2) is found. Based on these sequences, a 4,657bp complete coding cDNA whic...
关键词：SPINOCEREBELLAR ATAXIA HOMOLOGUE Full length cDNA SPLICING form Fluorescence in SITU HYBRIDIZATION 
Trinucleotide repeat expansion of spinocerebellar ataxia (SCA1) found in a Chinese family被引量：1
《Chinese Medical Journal》1998年第2期64-66,共3页蔡涛 喻萍 陈翔 
Abstract Objective To investigate the gene mutation and the ratio of the spinocerebellar ataxia type 1 (SCA1) in Chinese patients with autosomal dominant spinocerebellar ataxia (ADSCA). Method The family material ...
遗传性共济失调的遗传及生化研究
《国际内科学杂志》1989年第1期14-17,共4页徐书雯 梁秀龄 
文献报道遗传性共济失调已有60多种类型,通常为家族遗传性。近年研究发现本病可能有HLA 相关和非相关两型,并发现病人的神经递质和酶在量及代谢方面都发生改变。把症状学、病理发现和脑尸检的生化改变结合起来,将可进一步了解本病的异...
关键词：FA Friedreich ATAXIA Friedreich 共济失调 GABA gamma-aminobutyric acid γ-氨基丁酸 HA hereditary ATAXIA 遗传性共济失调 HCA hereditary cerebellar ATAXIA 遗传性小脑性共济失调 HLA humen leucocyte antigen 人类白细胞抗原 OPCA olivopontocerebellar atrophy 橄榄桥脑小脑萎缩 OPCD olivopontocerebellar degeneration 橄榄桥脑小脑变性 SCA spinocerebellar ATAXIA 脊髓小脑性共济失调 
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