携带新的NOTCH3基因突变的CADASIL一家系报道
Novel mutation of NOTCH3 gene in a pedigree with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy
摘要
常染色体显性遗传合并皮质下梗死和白质脑病(cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, CADASIL)是一种进展性的脑小血管疾病.主要表现为偏头痛,脯卒中和脑白质病变,一些患者还有认知障碍。
出处
《中华神经医学杂志》
CSCD
北大核心
2017年第7期738-739,共2页
Chinese Journal of Neuromedicine
二级参考文献35
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共引文献2
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1郑晓明,包华.脑小血管病的研究进展[J].中国医药科学,2018,8(16):32-37.
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2李静雅,王君,莫卫焱,任歆,汪琦,周卫东.糖皮质激素受体基因NR3C1 rs7701443和rs2963156多态性与脑小血管病的相关性分析[J].中国医药导报,2021,18(16):42-45. 被引量:1
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1李重霖,毕桂南,石胜良.脑小血管病与卒中后抑郁[J].国际脑血管病杂志,2017,25(4):371-374. 被引量:8
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2赵敏,刘方.无脑回畸形患儿的临床表现及基因分析[J].临床儿科杂志,2017,35(7):519-521.
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3张宾,潘洁敏.低分子肝素钙在进展型脑血栓治疗中的临床价值观察[J].中国医药科学,2017,7(10):35-38. 被引量:6
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4《卒中后认知障碍管理专家共识(2017)》防治要点[J].实用心脑肺血管病杂志,2017,25(6):37-37. 被引量:6