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

Genetic and nongenetic factors associated with CADASIL: A retrospective cohort study.

Journal of the neurological sciences - 15 Dec 2020

Ospina Carolina, Arboleda-Velasquez Joseph F, Aguirre-Acevedo Daniel Camilo, Zuluaga-Castaño Yesica, Velilla Lina, Garcia Gloria P, Quiroz Yakeel T, Lopera Francisco

Abstract excerpt

OBJECTIVE: To explore the role of cardiovascular risk factors and the different NOTCH-3 mutations to explain the variability observed in the clinical presentation of CADASIL. METHODS: This was a retrospective cohort study of 331 individuals, 90 were carriers of four mutations in the NOTCH3 gene. These four mutations are the ones identified in our region from the genetic evaluation of probands. Cox proportional...

Read the complete abstract on PubMed

Topics

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

Share to Age of Onset
Share to CADASIL

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heart Disease Risk Factors

Share to Magnetic Resonance Imaging

Share to Phenotype

Share to Receptor, Notch3

Share to Receptors, Notch

Source

Identifiers

PMID: 33091750
DOI: 10.1016/j.jns.2020.117178

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and nongenetic factors associated with CADASIL: A retrospective cohort study.PMID 33091750Read ↗

Clinical spectrum of CADASIL and the effect of cardiovascular risk factors on phenotype: study in 200 consecutively recruited individuals.Semantic proximity Read ↗

APOE and AGT in the Finnish p.Arg133Cys CADASIL population.Semantic proximity Read ↗

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

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

Different clinical phenotypes in monozygotic CADASIL twins with a novel NOTCH3 mutation.Semantic proximity Read ↗

Influence of different spectra of NOTCH3 variants on the clinical phenotype of CADASIL - experience from Slovakia.Semantic proximity Read ↗

Mutation spectrum and genotype-phenotype correlations in 157 Korean CADASIL patients: a multicenter study.Semantic proximity Read ↗

Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.Semantic proximity Read ↗

A Chinese CADASIL family with p.R578C mutation at exon 11 of the NOTCH3 gene.Semantic proximity Read ↗

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.Semantic proximity Read ↗

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

The R110C mutation in Notch3 causes variable clinical features in two Turkish families with CADASIL syndrome.Semantic proximity Read ↗

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