Associated Papers
Bridging pleiotropic mechanisms in leprosy type-1 reactions and neurodegenerative diseases.
Fava VM et al.
Scientific Reports, 2025
Predictive biomarkers for valproic acid-induced hepatotoxicity in Chinese patients with epilepsy: the role of metabolites and genetic polymorphisms.
Wen D et al.
Food and Chemical Toxicology : an International Journal Published for the British Industrial Biological Research Association, 2025
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.
Ezell KM et al.
Molecular Genetics and Metabolism Reports, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Healthcare utilization and clinical characteristics of genetic epilepsy in electronic health records.
Boßelmann CM et al.
Brain Communications, 2024
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
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
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
The Y831C Mutation of the POLG Gene in Dementia.
Borgione E et al.
Biomedicines, 2023
Genetic susceptibility of bladder cancer in the Lebanese population.
Kourie HR et al.
Bmc Medical Genomics, 2022
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India.
Deepha S et al.
Journal of Molecular Neuroscience : Mn, 2021
The impact of mitochondria-related POLG and TFAM variants on breast cancer pathomorphological characteristics and patient outcomes.
Golubickaite I et al.
Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2021
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.
Hedberg-Oldfors C et al.
Brain Pathology (zurich, Switzerland), 2021
Mitochondrial Mutations and Genetic Factors Determining NAFLD Risk.
Dabravolski SA et al.
International Journal of Molecular Sciences, 2021
POLG Gene Variants in Cervical Cancer Patients and Their Associations with Clinical and Pathomorphological Tumor Characteristics.
Golubickaite I et al.
Journal of Clinical Medicine, 2021
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
Lee Y et al.
Genes, 2021
Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies.
Saak A et al.
Frontiers in Neuroscience, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.
Thakran S et al.
International Journal of Molecular Sciences, 2020
Response To: Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively.
von Stülpnagel C et al.
Neuropediatrics, 2020
Overlapping Phenotype from Double Trouble SMARCA2 and POLG1 Variants c.2556A > C and c.3708G > T, Respectively.
Finsterer J
Neuropediatrics, 2020
Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides-Baraitser Syndrome (SMARCA2 Mutation)-Due to a POLG1-Related Effect?
Hofmeister B et al.
Neuropediatrics, 2020
A Specific Diplotype H1j/H2 of the MAPT Gene Could Be Responsible for Parkinson's Disease with Dementia.
Smaili I et al.
Case Reports in Genetics, 2020
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.
Hsieh PC et al.
Brain and Behavior, 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
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 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
The presence of anaemia negatively influences survival in patients with POLG disease.
Hikmat O et al.
Journal of Inherited Metabolic Disease, 2017
A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.
Siibak T et al.
Human Molecular 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
Mitochondrial genome architecture in non-alcoholic fatty liver disease.
Sookoian S et al.
The Journal of Pathology, 2016
Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.
Anagnostou ME et al.
Epilepsia, 2016
The wide POLG-related spectrum: An integrated view.
Béreau M et al.
Journal of the Neurological Sciences, 2016
Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis.
Souren NY et al.
Human Mutation, 2016
Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions.
Belmonte FR et al.
Scientific Reports, 2016
Mitochondrial DNA Polymerase γ Mutations and Their Implications in mtDNA Alterations in Colorectal Cancer.
Linkowska K et al.
Annals of Human Genetics, 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
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 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
Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.
Hynynen J et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2014
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Valproic acid triggers increased mitochondrial biogenesis in POLG-deficient fibroblasts.
Sitarz KS et al.
Molecular Genetics and Metabolism, 2014
[Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
Mukai M et al.
Rinsho Shinkeigaku = Clinical Neurology, 2014
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