Associated Papers
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Small molecules restore mutant mitochondrial DNA polymerase activity.
Valenzuela S et al.
Nature, 2025
Presentation, Treatment, and Outcome of a First Stroke-like Episode in a Carrier of the Compound Heterozygous Variants c.695G_A and c.2209G_C in POLG: A Case Report.
Zieglgänsberger D et al.
Cureus, 2025
A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.
Kalampokini S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions.
Cerantonio A et al.
International Journal of Molecular Sciences, 2024
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Clinical and molecular spectrum associated with Polymerase-γ related disorders.
Jha R et al.
Journal of Child Neurology, 2022
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K et al.
Developmental Medicine and Child Neurology, 2021
Nuclear Genes Associated with Mitochondrial DNA Processes as Contributors to Parkinson's Disease Risk.
Müller-Nedebock AC et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
POLG mutations presenting as Charcot-Marie-Tooth disease.
Phillips J et al.
Journal of the Peripheral Nervous System : Jpns, 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
No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells.
Steffann J et al.
Journal of Medical Genetics, 2017
The wide POLG-related spectrum: An integrated view.
Béreau M et al.
Journal of the Neurological Sciences, 2016
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
Menezes MP et al.
Mitochondrion, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.
Gui YX et al.
Parkinsonism & Related Disorders, 2015
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
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
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Rouzier C et al.
European Journal of Human Genetics : Ejhg, 2014
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
Alpers syndrome with mutations in POLG: clinical and investigative features.
Hunter MF et al.
Pediatric Neurology, 2011
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
Brinjikji W et al.
Jimd Reports, 2011