Associated Papers
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
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Lafraoui I et al.
International Journal of Molecular Sciences, 2024
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
Structures of the mitochondrial single-stranded DNA binding protein with DNA and DNA polymerase γ.
Riccio AA et al.
Nucleic Acids Research, 2024
Novel RAB39B variant associated intellectual disability and levodopa-responsive young-onset parkinsonism.
Abusrair A et al.
Parkinsonism & Related Disorders, 2023
DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
Harju T et al.
The Pharmacogenomics Journal, 2023
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Adrenal Dysfunction in Mitochondrial Diseases.
Corkery-Hayward M et al.
International Journal of Molecular Sciences, 2023
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine.
Heddar A et al.
Ebiomedicine, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
Kohaar I et al.
Nature Communications, 2022
Natural History of Polymerase Gamma-Related Ataxia.
Bender F et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
Lee Y et al.
Genes, 2021
Paroxysmal kinesigenic dyskinesia associated with a novel POLG variant: A case report.
Zhou Y et al.
Medicine, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Hynynen J et al.
Epilepsia, 2018
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M et al.
Brain : a Journal of Neurology, 2017
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
Da Pozzo P et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017
Mitochondrial disease and endocrine dysfunction.
Chow J et al.
Nature Reviews. Endocrinology, 2017
Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant.
Güldner M et al.
Parkinsonism & Related Disorders, 2016
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
Is deltoid muscle biopsy useful in isolated camptocormia? A prospective study.
Chanson JB et al.
European Journal of Neurology, 2016
Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.
Belmonte FR et al.
Scientific Reports, 2016
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.
Calderwood L et al.
Journal of Child Neurology, 2016
Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer.
Linkowska K et al.
Annals of Human Genetics, 2015
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Tchikviladzé M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.
Baruffini E et al.
Mitochondrion, 2015
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.
Komulainen T et al.
Jimd Reports, 2015
Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
Singh B et al.
Plos One, 2015
Rare variant of unknown significance in POLG1 and diagnostic dilemma.
Prasun P
Journal of Neurology, 2014
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 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
Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease.
Ylönen S et al.
Journal of Neurology, 2013
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
Gaily E et al.
Epilepsia, 2013
Mitochondrial dysfunction in migraine.
Yorns WR et al.
Seminars in Pediatric Neurology, 2013
Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum.
Cotman SL et al.
Current Neurology and Neuroscience Reports, 2013
Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism.
Dolhun R et al.
Bmc Neurology, 2013
Clinical and molecular features of POLG-related mitochondrial disease.
Stumpf JD et al.
Cold Spring Harbor Perspectives in Biology, 2013
Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.
Sohl CD et al.
Human Molecular Genetics, 2013
POLG mutations in Australian patients with mitochondrial disease.
Woodbridge P et al.
Internal Medicine Journal, 2013
Audiological follow-up of children with the m.1555A>G mutation in mitochondrial DNA.
Häkli S et al.
Audiology & Neuro-otology, 2013