Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Surgery
Reference32 articles.
1. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Yanagawa;Neurology,2002
2. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease;Hara;N Engl J Med,2009
3. Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification;Fukutake;J Stroke Cerebrovasc Dis,2011
4. Histopathologic analysis of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): a report of a new genetically confirmed case and comparison to 2 previous cases;Ito;J Neuropathol Exp Neurol,2016
5. A novel mutation in the HTRA1 gene causes CARASIL without alopecia;Nishimoto;Neurology,2011
Cited by 11 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Progress in the Study of the Role and Mechanism of HTRA1 in Diseases Related to Vascular Abnormalities;International Journal of General Medicine;2024-04
2. Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy;Frontiers in Genetics;2023-09-18
3. Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease;International Journal of General Medicine;2023-03
4. Report of two pedigrees with heterozygous HTRA1 variants‐related cerebral small vessel disease and literature review;Molecular Genetics & Genomic Medicine;2022-08-10
5. HtrA1L364P leads to cognitive dysfunction and vascular destruction through TGF‐β/Smad signaling pathway in CARASIL model mice;Brain and Behavior;2022-07-15
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