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Article

Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Jul 2013

Choi Jay Chol, Lee Keun-Hwa, Song Sook-Keun, Lee Jung Seok, Kang Sa-Yoon, Kang Ji-Hoon

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder of cerebral small blood vessels caused by mutations in the NOTCH3 gene. The initial detection of CADASIL may be more difficult among Asian populations because common clinical phenotypes and neuroimaging findings are not frequently found in these populations. The purpose of...

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Source

Identifiers

PMID: 22133740
DOI: 10.1016/j.jstrokecerebrovasdis.2011.10.013

Genes

NOTCH3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Screening for NOTCH3 gene mutations among 151 consecutive Korean patients with acute ischemic stroke.PMID 22133740Read ↗

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

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Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation.Semantic proximity Read ↗

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.Semantic proximity Read ↗

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