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Article

Molecular pathogenesis of polymerase γ-related neurodegeneration.

Annals of neurology - 1 Jul 2014

Tzoulis Charalampos, Tran Gia Tuong, Coxhead Jonathan, Bertelsen Bjørn, Lilleng Peer K, Balafkan Novin, Payne Brendan, Miletic Hrvoje, Chinnery Patrick F, Bindoff Laurence A

Abstract excerpt

OBJECTIVE: Polymerase gamma (POLG) mutations are a common cause of mitochondrial disease and have also been linked to neurodegeneration and aging. We studied the molecular mechanisms underlying POLG-related neurodegeneration using postmortem tissue from a large number of patients. METHODS: Clinical information was available from all subjects. Formalin-fixed and frozen brain tissue from 15 patients and 23 controls...

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Source

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Identifiers

PMID: 24841123
DOI: 10.1002/ana.24185
PMCID: PMC4140551

Genes

POLG

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.

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