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
Gene Diagnosis and CAG Repeat Analysis of Spinocerebellar Ataxia Cases of Guangxi Region Treating Four Refractory and Relapse Acute Myelocytic Leukemia Patients with Sequential Dual Induction Chemotherapy: FA Combined with Priming Chemotherapy 脊髓小脑性共济失调病人的基因诊断和CAG重复扩增研究FA+CAG序贯双诱导治疗复发难治急性髓系白血病4例
Molecular Diagnostic Methods for Wilson Disease, Huntington Disease and Spinocerebellar Ataxia 肝豆状核变性、亨廷顿病和遗传性共济失调的分子诊断方法研究
Molecular Genetic Diagnosis and Clinical Analysis of Characteristics of Spinocerebellar Ataxia Type 2 脊髓小脑性共济失调2型的分子遗传学诊断及临床分析
The Clinical Features and Molecular Biology Studies on Hereditary Spinocerebellar Ataxia Type 3 in Ningxia Area 宁夏地区遗传性脊髓小脑性共济失调3型的临床与分子研究
Analysis of the gene mutation and clinical characteristic of hereditary spinocerebellar ataxia type 7 遗传性脊髓小脑性共济失调7型的基因突变及临床特征分析
Since the identification of the first gene responsible for spinocerebellar ataxia type 1 ( SCA1) in 1993, an increasing number of genes and chromosomal loci have been characterized. 自从1993年,第一个SCA亚型(SCA1)被鉴定以来,不断有新的位点被发现,到目前为止至少发现有27种SCA亚型。
Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6 中国大陆汉族人群SCA各亚型的突变频率分析及SCA6的临床和分子特征
Establishment of germplasm repository of spinocerebellar ataxia 脊髓小脑性共济失调遗传种质库的建立
Detection of trinucleotide repeat expansions in the study of hereditary spinocerebellar ataxia ( SCA) and its clinical significance 三核苷酸重复的检测在脊髓小脑型共济失调的应用研究
Analysis of the clinical features and genetic mutation of spinocerebellar ataxia type 6 from Chinese kindreds 脊髓小脑型共济失调6型患者的临床特征及基因突变分析
To study the molecular genetic diagnosis and clinical characteristics of spinocerebellar ataxia type 12 ( SCA12). 【目的】研究分析脊髓小脑性共济失调12型(SCA12)的分子诊断及临床表现特征。
Role of cell apoptosis in the molecular pathogenesis of spinocerebellar ataxia type 3 细胞凋亡在脊髓小脑性共济失调3型发病机制中的作用
Objective To explore SCA 3 gene mutation in the patients with inherited spinocerebellar ataxia. 1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。
Objective To study the clinical features and genetic mutation frequency of spinocerebellar ataxia ( SCA) type 6 from Chinese kindreds. 目的研究脊髓小脑型共济失调(SCA)6型的临床特征和基因突变频率。
Frequency of different subtypes of spinocerebellar ataxia in the Han nationality of Hunan province in China 湖南汉族人群遗传性脊髓小脑型共济失调患者三核苷酸突变频率分布
Objective To study the role of cell apoptosis in the molecular pathogenesis of spinocerebellar ataxia type 3 ( SCA3). 目的研究细胞凋亡在脊髓小脑性共济失调3型(SCA3)分子发病机制中的作用。
We diagnosised 2 spinocerebellar ataxia type 3 pedigrees, including 20 familial patients, for the first time in the Three Gorge Reservoir Area. 3. 三峡库区首次确诊2个脊髓小脑性共济失调3型家系,其中有20名家系患者。
The clinical features of the spinocerebellar ataxia include ataxa, dysarthria, dysmetria et al. The gene diagnosis can be used as diagnostic criteria and the detection of repeats times of CAG can provide an effective way for the genetic and presymptomatic diagnosis. 临床特征有共济失调、构音障碍,基因诊断是一种准确的诊断方法和标准,CAG重复序列数目的检测对于基因诊断和症状前诊断是一种十分有效的方法。
Spinocerebellar ataxia type 3/ Machado-Joseph disease ( SCA3/ MJD) is a kind of autosomal dominant disease, which is characterized by degeneration of neurons and accumulation of aberrant protein aggregates in affected neurons. 脊髓小脑型共济失调Ⅲ型/马查多-约瑟夫病(SCA3/MJD),是一种以神经细胞变性、细胞核内蛋白聚集体形成为病理特征的常染色体显性遗传病。
We diagnosised 1 sporadic patients of spinocerebellar ataxia type 3 for the first time in the Three Gorge Reservoir Area. 4. 三峡库区首次确诊1名脊髓小脑性共济失调3型散发患者。