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- Keywords spinocerebellar ataxia type 6;clinical features;trinucleotide repeat;allele; 脊髓小脑型共济失调6型;临床特征;三核苷酸重复;等位基因;
- spinocerebellar ataxia type 6 脊髓小脑型共济失调6型
- 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 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。
- Spinocerebellar ataxia type 2: PolyQ repeat variation in the CACNA1A calcium channel modifies age of onset 脊髓小脑共济失调2型:CACNA1A基因钙通道修饰中的PolyQ重复变异对发病年龄的影响
- Keywords spinocerebellar ataxia type 1;intermediate repeat;fragment analysis;clinical variation; 脊髓小脑共济失调1型;中等重复;片段分析;临床变异性;
- spinocerebellar ataxia type 1 脊髓小脑共济失调1型
- 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 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；
- Type 6 enclosures are intended for use indoors and out-doors where occasional submersion is encountered. 类型6外壳适用于偶尔会出现浸水情况的室内和室外应用。
- The Type 6 contained an electric motor driving a rotor mounted on a stem, the end of which actuated a linkage. 6号包含一个电机驱动的陀螺转子，转子装配在一个杆上，杆的末端驱使一个连接器。
- This command prevents the generation of a syslog message when a type 6 LSA is received. 这个命令会阻止产生日志信息，当收到类型6的LSA时。
- Type 6 enclosures are intended for use indoorsout-doors where occasional submersion is encountered. 类型6外壳适用于偶尔会出现浸水情况的室内和室外应用。
- 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。
- Type 6 is a special class of applications with requirements that are better satisfied by traditional cluster technology than by grid technology. 类型6是一种特殊的应用程序,与网格技术相比,传统的群集技术能够更好地满足其需求。
