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

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2022

Ragno Michele, Pianese Luigi, Tiberi Sara, Cacchiò Gabriella, Paci Cristina, Trojano Luigi

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CADASIL
Exons
Homozygote
Magnetic Resonance Imaging
Mutation, Missense
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptor, Notch3

Receptors, Notch

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PMID: 34739617
DOI: 10.1007/s10072-021-05706-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.PMID 34739617Read ↗

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

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

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

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

A pathogenic mutation on exon 21 of the NOTCH3 gene causing CADASIL in an octogenarian paucisymptomatic patient.Semantic proximity Read ↗

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

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

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

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

First report of a pathogenic mutation on exon 24 of the NOTCH3 gene in a CADASIL family.Semantic proximity Read ↗

Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors.Semantic proximity Read ↗

Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant.Semantic proximity Read ↗

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