Associated Papers
A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?
Idiculla PS et al.
Journal of Clinical and Translational Research, 2021
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.
Nurminen A et al.
Bba Clinical, 2017
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
Farnum GA et al.
Biochimica Et Biophysica Acta, 2014
The mitochondrial DNA polymerase in health and disease.
Copeland WC
Sub-cellular Biochemistry, 2010
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R et al.
Brain : a Journal of Neurology, 2006
POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
Hudson G et al.
Neurology, 2006
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