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Article

Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 May 2013

Spinicci Gabriella, Conti Maria, Cherchi Maria Valeria, Mancosu Cristina, Murru Raffaele, Carboni Nicola

Abstract excerpt

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a disease caused by alterations in the NOTCH3 gene. METHODS: We describe the clinical, instrumental, and genetic findings in CADASIL patients who carry novel NOTCH3 gene mutations. RESULTS AND CONCLUSIONS: This study broadens the spectrum of clinical manifestations and genetic alterations associated...

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Source

Identifiers

PMID: 23465844
DOI: 10.1016/j.jstrokecerebrovasdis.2013.02.002

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.PMID 23465844Read ↗

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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

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