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Article

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.

Neurogenetics - 1 Jul 2006

Annunen-Rasila Johanna, Finnilä Saara, Mykkänen Kati, Moilanen Jukka S, Veijola Johanna, Pöyhönen Minna, Viitanen Matti, Kalimo Hannu, Majamaa Kari

Abstract excerpt

Mutations in the NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is clinically characterised by recurrent ischemic strokes, migraine with aura, psychiatric symptoms, cognitive decline and dementia. We have previously described a patient with CADASIL caused by a R133C mutation in the NOTCH3 gene and with a concomitant myopathy caused by...

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Source

Identifiers

PMID: 16807713
DOI: 10.1007/s10048-006-0049-x

Genes

NOTCH3

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial DNA sequence variation and mutation rate in patients with CADASIL.PMID 16807713Read ↗

A novel mitochondrial DNA mutation and a mutation in the Notch3 gene in a patient with myopathy and CADASIL.Semantic proximity Read ↗

A Novel NOTCH3 Frameshift Deletion and Mitochondrial Abnormalities in a Patient With CADASILSemantic proximity Read ↗

Mitochondrial dysfunction associated with a mutation in the Notch3 gene in a CADASIL family.Semantic proximity Read ↗

Neuromuscular implications in CADASIL.Semantic proximity Read ↗

Mitochondrial DNA m.3243A>G mutation rarely causes CADASIL-like phenotype.Semantic proximity Read ↗

Decreased mitochondrial D-loop region methylation mediates an increase in mitochondrial DNA copy number in CADASILSemantic proximity Read ↗

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.Semantic proximity Read ↗

Evaluation of DHPLC analysis in mutational scanning of Notch3, a gene with a high G-C content.Semantic proximity Read ↗

CADASIL: extended polymorphisms and mutational analysis of the NOTCH3 gene.Semantic proximity Read ↗

Peripheral nerve and skeletal muscle involvement in CADASIL.Semantic proximity Read ↗

De novo Mutation Enables NOTCH3ECD Aggregation and Mitochondrial Dysfunction via Interactions with BAX and BCL-2.Semantic proximity Read ↗

Research on Mitochondrial DNA Mutations in Patients with SCA3/MJDSemantic proximity Read ↗

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