神经科学杂志  

J. NEUROL. SCI.

作　　者：郭中孟(译) 

出　　处：《世界核心医学期刊文摘（神经病学分册）》2006年第4期53-57,共5页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：2例华裔共济失调毛细血管扩张症患者的ATM基因突变分析;轴突变性型夏科-马里-图思病4型波兰家族的GDAP1基因Met116Thr新突变;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;多发性硬化症患者的血清和脑脊液IL-15升高;非系统性脉管炎神经病变的临床病理特征与多脉管炎相关神经病变的显微结构：一项对比研究.Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia;A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease;Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene;IL - 15 is elevated in serum and cerebrospinal fluid of patients with multiple sclerosis;Clinicopathologic features of nonsystemic vasculitic neuropathy and microscopic polyangiitis-associated neuropathy： A comparative study.

关 键 词：神经科学杂志 共济失调毛细血管扩张症 CACNA1A基因 脊髓小脑共济失调 基因突变分析 多发性硬化症 临床病理特征 神经病变 IL-15 P1基因 

分 类 号：R651[医药卫生—外科学] R543.7[医药卫生—临床医学]