Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.
Kristensen E et al.
Annals of Clinical and Translational Neurology, 2024
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Disease-specific phenotypes in iPSC-derived neural stem cells with POLG mutations.
Liang KX et al.
Embo Molecular Medicine, 2020
Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study.
Hayhurst H et al.
Brain Pathology (zurich, Switzerland), 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Hikmat O et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
The presence of anaemia negatively influences survival in patients with POLG disease.
Hikmat O et al.
Journal of Inherited Metabolic Disease, 2017
Understanding the Epilepsy in POLG Related Disease.
Hikmat O et al.
International Journal of Molecular Sciences, 2017
Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.
DeBalsi KL et al.
The Journal of Biological Chemistry, 2017
No evidence of ischemia in stroke-like lesions of mitochondrial POLG encephalopathy.
Tzoulis C et al.
Mitochondrion, 2017
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.
Macao B et al.
Nature Communications, 2015
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
Molecular pathogenesis of polymerase γ-related neurodegeneration.
Tzoulis C et al.
Annals of Neurology, 2014
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Sofou K et al.
Mitochondrion, 2013
Clinical and molecular features of POLG-related mitochondrial disease.
Stumpf JD et al.
Cold Spring Harbor Perspectives in Biology, 2013
Phenotypic and genotypic variability in Alpers syndrome.
Sofou K et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.
Baruffini E et al.
Plos One, 2012
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Euro L et al.
Nucleic Acids Research, 2011
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
Baruffini E et al.
Mitochondrion, 2011
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
Tzoulis C et al.
Brain : a Journal of Neurology, 2010