Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.

Journal of neurology - 1 Jan 2015

Bianchi Silvia, Zicari Enza, Carluccio Alessandra, Di Donato Ilaria, Pescini Francesca, Nannucci Serena, Valenti Raffaella, Ragno Michele, Inzitari Domenico, Pantoni Leonardo, Federico Antonio, Dotti Maria Teresa

Abstract excerpt

The objective of the study is to detail clinical and NOTCH3 gene mutational spectrum in a large group of Italian CADASIL patients. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a familial cerebral small vessels disease caused by mutations in the NOTCH3 gene on 19p13 usually presenting in young or middle adulthood. Characteristic features include migraine,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aged
Share to CADASIL

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genotype

Share to Mutation

Share to Phenotype

Share to Receptor, Notch3

Share to Receptors, Notch

Source

Identifiers

PMID: 25344745
DOI: 10.1007/s00415-014-7533-2

Genes

NOTCH3
EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CADASIL in central Italy: a retrospective clinical and genetic study in 229 patients.PMID 25344745Read ↗

Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).Semantic proximity Read ↗

The spectrum of Notch3 mutations in 28 Italian CADASIL familiesSemantic proximity Read ↗

A Novel Heterozygous Variant in Exon 19 of NOTCH3 in a Saudi Family with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.Semantic proximity Read ↗

Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.Semantic proximity Read ↗

Clinical, familial, and neuroimaging features of CADASIL-like patients.Semantic proximity Read ↗

Comparison of clinical, familial, and MRI features of CADASIL and NOTCH3-negative patients.Semantic proximity Read ↗

Clinical and radiological features in CADASIL and NOTCH3-negative patients: a multicenter study from Turkey.Semantic proximity Read ↗

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

Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation.Semantic proximity Read ↗

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

NOTCH3 mutations and clinical features in 33 mainland Chinese families with CADASIL.Semantic proximity Read ↗

CADASIL in Arabs: clinical and genetic findingsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.