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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.

Human genetics - 1 Jun 2007

Ferreira Susana, Malheiro Filipa, Oliveira João Paulo

Abstract excerpt

No abstract is available from the source.

Topics

Brain Diseases
Genes, Dominant
Humans
Mutation
Receptor, Notch3
Receptors, Notch

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 17879453

Genes

NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Novel human pathological mutations. Gene symbol: NOTCH3. Disease: cerebral autosomal dominant aretriopathy with subcortical infarcts and leukoencephalopathy.PMID 17879453Read ↗

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 ↗

Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL, exon 2 mutation.Semantic proximity Read ↗

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.Semantic proximity Read ↗

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

ACER3-Realted Leukoencephalopathy: Expanding The Clinical and Imaging Findings Spectrum Due to Novel VariantsSemantic proximity Read ↗

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

ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants.Semantic proximity Read ↗

Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: UBE3A. Disease: Angelman Syndrome.Semantic proximity Read ↗

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