Clinical features and spectrum of NOTCH3 variants in Finnish patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)
Sign Up to like & getrecommendations! Published in 2022 at "Acta Neurologica Scandinavica"
DOI: 10.1111/ane.13703
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by pathogenic variants in the NOTCH3 gene. In Finland, the majority of CADASIL patients carry the pathogenic founder… read more here.
Keywords: arteriopathy subcortical; subcortical infarcts; dominant arteriopathy; autosomal dominant ... See more keywords
Rare NOTCH3 Variants in a Chinese Population-Based Cohort and Its Relationship With Cerebral Small Vessel Disease
Sign Up to like & getrecommendations! Published in 2021 at "Stroke"
DOI: 10.1161/strokeaha.120.032265
Abstract: Supplemental Digital Content is available in the text. Background and Purpose: Researches on rare variants of NOTCH3 in the general Chinese population are lacking. This study aims to describe the spectrum of rare NOTCH3 variants… read more here.
Keywords: vessel disease; rare notch3; notch3 variants; small vessel ... See more keywords
Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000010525
Abstract: Objective To determine the small vessel disease spectrum associated with cysteine-altering NOTCH3 variants in community-dwelling individuals by analyzing the clinical and neuroimaging features of UK Biobank participants harboring such variants. Methods The exome and genome… read more here.
Keywords: cysteine; individuals harboring; notch3 variants; cysteine altering ... See more keywords