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[CADASIL: brief report on a family with a new p.G296C mutation in exon 6 of the Notch-3 gene].

Revista de neurologia - 16 Dec 2010

García-Estévez Daniel A, Barros-Angueira Francisco, Navarro Carmen

Abstract excerpt

INTRODUCTION: CADASIL is a dominant autosomal inborn systemic arteriopathy, whose genetic anomaly is located in the Notch-3 gene of chromosome 19. It is clinically characterised by migraine with aura, recurrent stroke and cognitive deterioration, and is one of the causes of strokes among the young. CASE REPORT: The propositus was a 57-year-old male who presented a clinical picture of dysarthria, loss of strength...

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PMID: 21157735

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

[CADASIL: brief report on a family with a new p.G296C mutation in exon 6 of the Notch-3 gene].PMID 21157735Read ↗

[Clinical, radiological, histopathological and genetic findings in a Danish "CADASIL" family].Semantic proximity Read ↗

Clinical spectrum in CADASIL family with a new mutation.Semantic proximity Read ↗

NOTCH3 gene mutations in subjects clinically suspected of CADASIL.Semantic proximity Read ↗

[Clinical and neuroimaging findings in a family with CADASIL associated to C475T mutation].Semantic proximity Read ↗

[A new Spanish family with CADASIL associated with 346C>T mutation of NOTCH3 gene].Semantic proximity Read ↗

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.Semantic proximity Read ↗

NOTCH3 mutations in a cohort of Portuguese patients within CADASIL spectrum phenotype.Semantic proximity Read ↗

A novel Notch3 Gly89Cys mutation in a Serbian CADASIL family.Semantic proximity Read ↗

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

A new de novo Notch3 mutation causing CADASIL.Semantic proximity Read ↗

A novel heterozygous mutation in the NOTCH3 gene causing CADASIL.Semantic proximity Read ↗

A novel CADASIL-causing mutation in a stroke patient.Semantic proximity Read ↗

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