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
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 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
Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.
Molla GK et al.
Frontiers in Neurology, 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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Hosseinpour S et al.
Brain & Development, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
Olkhova EA et al.
Communications Biology, 2023
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
Rahman MM et al.
The Journal of Biological Chemistry, 2022
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
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
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
Compound Heterozygosity for a Novel Frameshift Variant Causing Fatal Infantile Liver Failure and Genotype-Phenotype Correlation of POLG c.3286C>T Variant.
Sriwattanapong K et al.
International Journal of Neonatal Screening, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.
Lujan SA et al.
Genome Biology, 2020
Pathogenic Germline Mutations in DNA Repair Genes in Combination With Cancer Treatment Exposures and Risk of Subsequent Neoplasms Among Long-Term Survivors of Childhood Cancer.
Qin N et al.
Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2020
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
Masingue M et al.
Mitochondrion, 2019
Copy-choice recombination during mitochondrial L-strand synthesis causes DNA deletions.
Persson Ö et al.
Nature Communications, 2019
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
Spectrum of movement disorders and neurotransmitter abnormalities in paediatric POLG disease.
Papandreou A et al.
Journal of Inherited Metabolic Disease, 2018
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
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
Early-Life Epilepsies and the Emerging Role of Genetic Testing.
Berg AT et al.
Jama Pediatrics, 2017
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.
Nurminen A et al.
Bba Clinical, 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
Epilepsy due to mutations in the mitochondrial polymerase gamma (POLG) gene: A clinical and molecular genetic review.
Anagnostou ME et al.
Epilepsia, 2016
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
Investigating complex I deficiency in Purkinje cells and synapses in patients with mitochondrial disease.
Chrysostomou A et al.
Neuropathology and Applied Neurobiology, 2016
Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease.
Martikainen MH et al.
Jama Neurology, 2016
Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease.
Lax NZ et al.
Neuropathology and Applied Neurobiology, 2016
Epilepsy in adults with mitochondrial disease: A cohort study.
Whittaker RG et al.
Annals of Neurology, 2015
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
Nicholls TJ et al.
Human Molecular Genetics, 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