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Article

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.

Journal of molecular neuroscience : MN - 1 Dec 2014

Mosca Lorena, Rivieri Francesca, Tanel Raffaella, Bonfante Aldo, Burlina Alessandro, Manfredini Emanuela, Primignani Paola, Gesu Giovanni P, Marocchi Alessandro, Penco Silvana

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult onset hereditary vascular disease with neurological manifestations. The classical clinical course is relentlessly progressive with early transient ischaemic attacks (TIA) or strokes, dementia and finally death in the mid-1960s. The disorder is inherited in an autosomal dominant fashion, with high...

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Source

Identifiers

PMID: 24816653
DOI: 10.1007/s12031-014-0311-x

Genes

NOTCH3
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.PMID 24816653Read ↗

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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 ↗

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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