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Article

A family with atypical CADASIL.

Journal of neurology - 1 Oct 2011

Vedeler Christian, Bindoff Laurence

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 21465151
DOI: 10.1007/s00415-011-6023-z
PMCID: PMC3184223

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Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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A family with atypical CADASIL.PMID 21465151Read ↗

Clinical spectrum of CADASIL: a study of 7 familiesSemantic proximity Read ↗

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

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

Palliative care in CADASIL: diagnosis is only the first step.Semantic proximity Read ↗

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

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

Family Lore, a Variant of Uncertain Significance, and CADASIL.Semantic proximity Read ↗

Skin biopsy findings in CADASIL.Semantic proximity Read ↗

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

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

First report of a Romanian CADASIL patient following immigration to Italy.Semantic proximity Read ↗

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

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