PLA2G6相关论文
A novel PLA2G6 gene mutation causes autosomal recessive early-onset parkinsonism with typical clinic
Objective Mutations in the PLA2G6 gene at the PARK14 locus have been reported in complicated parkinsonism patients.To as......
Clinical, neuropathological and genetic study of chinese patients with infantile neuroaxonal dystrop
Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegerative disorder involving both central ner......
目的 对一例PLA2G6基因突变引起的早发型帕金森病(early-onset parkinsonism,EOP)患者进行报道及随访,提高对EOP患者认识及治疗.方......
目的探讨1个中国不典型神经轴索营养不良家系临床表现、影像学特点及基因突变情况。方法收集2016年7月至河南省人民医院就诊的1个......
目的通过分析26例中国婴儿神经轴索营养不良(INAD)患儿的临床表型及遗传学特点,为开展该病的分子诊断及遗传咨询打下基础。方法对......
期刊
ue＊M＃’＃dkB4＃＃8＃”专利申请号:00109“7公开号:1278062申请日:00.06.23公开日:00.12.27申请人地址:（100084川C京市海淀区清华园申请人:清......
研究背景：帕金森病(Parkinson’s disease, PD)又称震颤麻痹(Paralysis agitans),是发病率仅次于阿尔兹海默病的第二大神经退行性疾......
背景帕金森病(Parkinson’s disease,PD)是一种常见的神经系统退行性疾病。多数病人为散发,但少数基因突变也可引起遗传性的帕金森......
