Associated Papers
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
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
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease.
Hopkins SE et al.
Journal of Child Neurology, 2010
The mitochondrial DNA polymerase in health and disease.
Copeland WC
Sub-cellular Biochemistry, 2010
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
Chan SS et al.
Mitochondrion, 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
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
Agostino A et al.
Neurology, 2003
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