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CADASIL: Blood test versus skin biopsy? [PDF]

, 2002
Thomas N. Helm, Klaus F. Helm
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"CADASIL coma": an underdiagnosed acute encephalopathy [PDF]

, 2003
F Schön +5 more
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First report of a p.Cys484Tyr Notch3 mutation in a CADASIL patient with acute bilateral multiple subcortical infarcts—case report and brief review

BMC Neurology
Background CADASIL(Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)is an inherited small vessel disease caused by mutations in NOTCH3 gene.
Weili Liu +6 more
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伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病患者大脑中动脉闭塞血管内治疗1例并文献复习 Endovascular Treatment of Middle Cerebral Artery Occlusion in Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report and Literature Review

Zhongguo cuzhong zazhi
伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy，CADASIL）是NOTCH3基因突变所致的遗传性脑小血管病，主要病变血管为颅内小动脉，累及大脑皮质和颅内大/中动脉的报道较罕见，目前缺乏特效治疗方法。本文报道1例大脑中动脉急性闭塞成功接受血管内治疗的CADASIL病例，并结合文献进行讨论 ...
刘昱君，刘雷媛，徐炳东，韩建邦，杨冰，丁燕，杨英，孟珩，张玉生 (LIU Yujun, LIU Leiyuan, XU Bingdong, HAN Jianbang, YANG Bing, DING Yan, YANG Ying, MENG Heng, ZHANG Yusheng )
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Cerebral Hemodynamics in CADASIL Before and After Acetazolamide Challenge Assessed With MRI Bolus Tracking