×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
29474836
2019
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
28771251
2018
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
The adjunctive application of transcranial direct current stimulation in the management of de novo refractory epilepsia partialis continua in adolescent-onset POLG -related mitochondrial disease.
29588995
2018
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
27987238
2017
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Understanding the Epilepsy in POLG Related Disease.
28837072
2017
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.
26755490
2016
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
The spectrum of epilepsy caused by POLG mutations.
26104464
2016
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
26735972
2016
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.
25585994
2015
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
25356970
2015
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
25286830
2014
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.
24272679
2014
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
24725338
2014
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
GeneticVariation
phenotype
CLINVAR
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
24091540
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
23448099
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
GeneticVariation
phenotype
CLINVAR
Propofol-related infusion syndrome heralding a mitochondrial disease: case report.
23873972
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
POLG mutation presenting with late-onset jerky torticollis.
23212759
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders.
23665194
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
GeneticVariation
phenotype
CLINVAR
Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.
23208208
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
An informatics approach to analyzing the incidentalome.
22995991
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
GeneticVariation
phenotype
CLINVAR
Universal heteroplasmy of human mitochondrial DNA.
23077218
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
23446635
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Reduced mitochondrial DNA content and heterozygous nuclear gene mutations in patients with acute liver failure.
23783014
2013
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
21993618
2012
×
Entrez Id:
5428
Gene Symbol:
POLG
POLG
0.430
CausalMutation
phenotype
CLINVAR
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations.
22189570
2012