POLG gene

Known as: POLG-ALPHA, POLG, POLG1 
 
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Somatic stem cell (SSC) dysfunction is typical for different progeroid phenotypes in mice with genomic DNA repair defects. MtDNA… (More)
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Highly Cited
2011
Highly Cited
2011
Parkinson's disease (PD) is a progressive, neurodegenerative condition that has increasingly been linked with mitochondrial… (More)
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Highly Cited
2006
Highly Cited
2006
OBJECTIVE To define the molecular etiology of early-onset parkinsonism and peripheral neuropathy. METHODS Two sisters had early… (More)
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Highly Cited
2006
Highly Cited
2006
We studied 26 patients belonging to 20 families with a disorder caused by mutations in the POLG gene. The patients were… (More)
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Highly Cited
2005
Highly Cited
2005
Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following… (More)
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Highly Cited
2004
Highly Cited
2004
OBJECTIVE To identify POLG mutations in patients with sensory ataxia and CNS features. METHODS The authors characterized… (More)
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Highly Cited
2004
Highly Cited
2004
Point mutations and deletions of mitochondrial DNA (mtDNA) accumulate in a variety of tissues during ageing in humans, monkeys… (More)
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Highly Cited
2003
Highly Cited
2003
Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple… (More)
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Highly Cited
2001
Highly Cited
2001
Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are… (More)
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Highly Cited
2000
Highly Cited
2000
The human gene POLG encodes the catalytic subunit of mitochondrial DNA polymerase, but its precise roles in mtDNA metabolism in… (More)
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