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

NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family.

Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Feb 2020

Gallardo Andrés, Latapiat Verónica, Rivera Alejandra, Fonseca Beatriz, Roldan Andrés, Sandoval Patricio, Sánchez Carolina, Matamala José Manuel

Abstract excerpt

INTRODUCTION: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary stroke disorder caused by mutations in the NOTCH3 gene. We report the first Chilean CADASIL family with complete radiological and histological studies. METHODS: The family tree was constructed from an autopsy-confirmed confirmed patient, and includes 3 generations. We performed...

Read the complete abstract on PubMed

Topics

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

Share to CADASIL
Share to Chile

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Predisposition to Disease

Share to Heredity

Share to Pedigree

Share to Prognosis

Share to Receptor, Notch3

Share to Risk Factors

Source

Identifiers

PMID: 31813735
DOI: 10.1016/j.jstrokecerebrovasdis.2019.104530

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

NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family.PMID 31813735Read ↗

Arg332Cys mutation of NOTCH3 gene in the first known Taiwanese family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) associated with a novel C82R mutation in the NOTCH3 gene.Semantic proximity Read ↗

Unusual clinical presentations in subjects carrying novel NOTCH3 gene mutations.Semantic proximity Read ↗

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy revisitedSemantic proximity Read ↗

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

Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family.Semantic proximity Read ↗

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: two novel mutations in the NOTCH3 gene in Chinese.Semantic proximity Read ↗

New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

[NOTCH3 gene mutations in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy].Semantic proximity Read ↗

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

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