您要查找的是不是：
- A story of a brave man who despite his spinocerebellar ataxia refuses to give up volunteering. 一个罹患小脑萎缩症患者、不因生病放弃做志工的故事。
- Objective To study the gene mutation and clinical characteristics of hereditary spinocerebellar ataxia type 7 (SCA7). 摘要目的研究中国人遗传性脊髓小脑型共济失调(SCA)7型(SCA7)的基因突变和临床特征。
- We report two brothers with a progressive cerebellar syndrome due to spinocerebellar ataxia type 8 (SCA8). 我们报告了两个患有渐进性小脑综合征的兄弟，是由于8型脊髓小脑共济失调(SCA8)所致。
- Objective To explore the clinical and molecular biological characteristics of spinocerebellar ataxia type 3 (SCA3). 摘要目的探讨脊髓小脑性共济失调(SCA)3型的临床与分子生物学特征。
- Objective To explore SCA3 gene mutation in the patients with inherited spinocerebellar ataxia. 目的探讨遗传性脊髓小脑型共济失调(SCA)病人SCA3基因突变的意义。
- Methods:Fragment analysis based on CEQ8000 sequencer were applied to analyze the CAG repeat of SCA1 gene in two autosomal dominant inherited spinocerebellar ataxia pedigrees. 方法:采用基于CEQ8000核酸分析仪的片段分析方法对2个表型为常染色体显性遗传脊髓小脑共济失调家系进行SCA1基因CAG重复序列突变检测,并分析其临床特征。
- Tzu Chi volunteer Cai Caizhong from Kaohsiung contracted spinocerebellar ataxia two years ago.The disease gradually destroys his ability to move and talk. 住在高雄的慈济志工蔡财忠两年前被发现罹患小脑萎缩症，语言能力以及行动开始退化；
- Objective:To investigate the clinical features of the cases with intermediate Cytosine-Adenine-Guanine(CAG) repeat alleles of spinocerebellar ataxia type 1(SCA1). 目的:探讨脊髓小脑共济失调1型(SCA1)中等重复动态突变患者临床表型特征。
- The history of the research of cerebellar ataxia, and the different classifications of ataxia were reviewed. The pathogenesis and treatments of spinocerebellar ataxia were summarizd. 回顾小脑性共济失调的研究历史、分类,介绍脊髓小脑共济失调的病因机制和治疗方法。
- Objective To construct spinocerebellar ataxia 3 (SCA3) eukarotic expression vector with enhanced green fluorescent protein (EGFP) as report gene and to observe its expression in PC12 cells. 目的构建以增强型绿色荧光蛋白(EGFP)作为报告基因、带有脊髓小脑性共济失调3型(SCA3)基因的真核细胞表达载体,并转染PC12细胞,观察外源基因的表达情况。
- Abstract: The history of the research of cerebellar ataxia, and the different classifications of ataxia were reviewed.The pathogenesis and treatments of spinocerebellar ataxia were summarizd. 摘 要: 回顾小脑性共济失调的研究历史、分类，介绍脊髓小脑共济失调的病因机制和治疗方法。
- hereditary spinocerebellar ataxia 遗传性脊髓小脑性共济失调
- Minimum prevalence of spinocerebellar ataxia 17 in the north east of England 英格兰东北部17型脊髓小脑性共济失调的最低患病率
- A DETECTION OF SCA_3 MUTATION IN PATIENTS WITH INHERITED SPINOCEREBELLAR ATAXIA 遗传性脊髓小脑型共济失调病人SCA_3基因突变检测
- Keywords spinocerebellar ataxia 7;trinucleotide repeat;mutation detection; 脊髓小脑性共济失调7型;三核苷酸重复;突变检测;
- Keywords hereditary spinocerebellar ataxia;trinucleotide repeat;gene diagnosis; 遗传性脊髓小脑型共济失调;三核苷酸重复;基因诊断;
- Keywords Spinocerebellar ataxia Gene Trinucleotide repeat Dynamic mutation; 脊髓小脑型共济失调;基因;三核苷酸重复;动态突变;
- A study of clinical analysis and genetic polymorphism in hereditary spinocerebellar ataxia with psychiatric symptoms 遗传性共济失调伴精神障碍的临床及遗传研究
- Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene 早发非波动性脊髓小脑共济失调与CACNA1A基因的一种新错义突变
- Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis 脊髓小脑共济失调7型患者桥脑萎缩先于小脑变性:MRI容量分析
