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Article

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.

Expert review of molecular diagnostics - 1 Jun 2014

Rutten Julie W, Haan Joost, Terwindt Gisela M, van Duinen Sjoerd G, Boon Elles M J, Lesnik Oberstein Saskia A J

Abstract excerpt

CADASIL is an autosomal dominant inherited disease, characterized by mid-adult onset of cerebrovascular disease and dementia. CADASIL is caused by mutations in the NOTCH3 gene, which encodes the NOTCH3 protein. Pathogenic mutations in CADASIL are highly distinctive in the sense that they lead to...

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Source

Identifiers

PMID: 24844136
DOI: 10.1586/14737159.2014.922880

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24844136-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.PMID 24844136Read ↗

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Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study.Semantic proximity Read ↗

Cysteine-sparing notch3 mutations: cadasil or cadasil variants?Semantic proximity Read ↗

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