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Article

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report.

Journal of neurology - 1 Dec 2008

Liem Michael K, Lesnik Oberstein Saskia A J, Vollebregt Magdalena J, Middelkoop Huub A M, van der Grond Jeroen, Helderman-van den Enden Apollonia T J M

Abstract excerpt

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Topics

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Share to Aged
Share to CADASIL
Share to Cerebrovascular and genetic disorders
Share to NOTCH3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Mutation

Share to Receptor, Notch3

Share to Receptors, Notch

Source

Identifiers

PMID: 19153638
DOI: 10.1007/s00415-009-0036-x

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygosity for a NOTCH3 mutation in a 65-year-old CADASIL patient with mild symptoms: a family report.PMID 19153638Read ↗

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL featuresSemantic proximity Read ↗

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.Semantic proximity Read ↗

A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.Semantic proximity Read ↗

Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL.Semantic proximity Read ↗

First evidence of a pathogenic insertion in the NOTCH3 gene causing CADASIL.Semantic proximity Read ↗

Notch3 mutations and the potential for diagnostic testing for CADASIL.Semantic proximity Read ↗

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

Clinical features and mutation spectrum in Chinese patients with CADASIL: A multicenter retrospective study.Semantic proximity Read ↗

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.Semantic proximity Read ↗

Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.Semantic proximity Read ↗

The genetic spectrum and the evaluation of CADASIL screening scale in Chinese patients with NOTCH3 mutationsSemantic proximity Read ↗

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