Article

The role of germline and somatic nuclear and mitochondrial DNA variation in neurodegenerative disorders

2018-01-01

Abstract excerpt

Neurodegenerative disorders are a group of age-related conditions resulting in neuronal cell death and protein accumulation. It is estimated that around 5-10% of these cases are genetically mediated. Most commonly this is by pathogenic single nuclear variants (SNVs), though combinations of rare variants (termed oligogenic variation), copy-number variation (CNVs), somatic mutations in nuclear DNA, and somatically a...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 35725099-f928-5af1-b144-b1d7d21ef75e
DOI: 10.17863/cam.24553

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The role of germline and somatic nuclear and mitochondrial DNA variation in neurodegenerative disordersDOI 10.17863/cam.24553Read

Frequency and association of mitochondrial genetic variants with neurological disorders.Semantic proximity Read

Targeted copy number variant identification across the neurodegenerative disease spectrum.Semantic proximity Read

Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Semantic proximity Read

Population nuclear mitochondrial disease risk estimated from nuclear disease gene variants in a healthy older cohortSemantic proximity Read

Somatic mutations in neurodegeneration: An update.Semantic proximity Read

Mitochondrial DNA point mutations and relative copy number in 1363 disease and control human brains.Semantic proximity Read

Investigating the genetic association of mitochondrial DNA copy number with neurodegenerative diseasesSemantic proximity Read

A comprehensive assessment of benign genetic variability for neurodegenerative disordersSemantic proximity Read

The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future DirectionsSemantic proximity Read

Investigation of somatic mutations in human brains targeting genes associated with Parkinson’s diseaseSemantic proximity Read

Characterization of mitochondrial DNA quantity and quality in the human aged and Alzheimer’s disease brainSemantic proximity Read

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.Semantic proximity Read