Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Mitochondrial DNA depletion syndrome and its cardiac complication.
Bao S et al.
Frontiers in Cardiovascular Medicine, 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
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
Rare Germline Variants in DNA Repair Genes Detected in BRCA-Negative Finnish Patients with Early-Onset Breast Cancer.
Kurkilahti V et al.
Cancers, 2024
Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.
Adamson AW et al.
Journal of Ovarian Research, 2023
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.
Smaili I et al.
Journal of Molecular Neuroscience : Mn, 2023
The Y831C Mutation of the POLG Gene in Dementia.
Borgione E et al.
Biomedicines, 2023
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene.
Fierheller CT et al.
Genes, 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
Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.
Teerlink CC et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022
A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene.
Fierheller CT et al.
Genome Medicine, 2021
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.
Hedberg-Oldfors C et al.
Brain Pathology (zurich, Switzerland), 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
Identification of a POLG Variant in a Family With Arrhythmogenic Cardiomyopathy and Left Ventricular Fibrosis.
Spracklen TF et al.
Circulation. Genomic and Precision Medicine, 2021
Analysis of Human Mutations in the Supernumerary Subunits of Complex I.
Dang QL et al.
Life (basel, Switzerland), 2020
A high prevalence of arterial hypertension in patients with mitochondrial diseases.
Chong-Nguyen C et al.
Journal of Inherited Metabolic Disease, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.
Hildebrandt MR et al.
Stem Cell Reports, 2019
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary D et al.
Jama Network Open, 2019
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.
Hsieh PC et al.
Brain and Behavior, 2019
Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction.
Chen B et al.
Climacteric : the Journal of the International Menopause Society, 2018
Movement disorders in genetically confirmed mitochondrial disease and the putative role of the cerebellum.
Schreglmann SR et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2018
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
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
Kasahara T et al.
Psychiatry and Clinical Neurosciences, 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
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
Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.
DeBalsi KL et al.
Ageing Research Reviews, 2017
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.
Ortega-Moreno L et al.
Plos One, 2017
New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
Legati A et al.
Biochimica Et Biophysica Acta, 2016
Deep Sequencing Reveals Novel Genetic Variants in Children with Acute Liver Failure and Tissue Evidence of Impaired Energy Metabolism.
Valencia CA et al.
Plos One, 2016
Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer.
Linkowska K et al.
Annals of Human Genetics, 2015
Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.
Delgado-Alvarado M et al.
Journal of the Neurological Sciences, 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 Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
Singh B et al.
Plos One, 2015
Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.
Zabalza R et al.
Bmc Research Notes, 2014
Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.
Vital A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
Parkinson's disease and mitochondrial gene variations: a review.
Andalib S et al.
Journal of the Neurological Sciences, 2014
POLG1-related levodopa-responsive parkinsonism.
Miguel R et al.
Clinical Neurology and Neurosurgery, 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