Associated Papers
Short telomeres in mitochondrial DNA depletion disorders.
Dille Y et al.
Mitochondrion, 2026
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
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
Prenatal diagnosis of rare genetic disorders: fourteen years' experience of a tertiary genetic centre from India.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2025
Clinical and Molecular Characterizations of Mitochondrial Disorders: A Tertiary-Care Center Experience.
Almuqbil M et al.
Children (basel, Switzerland), 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Profiles of paediatric patients experiencing stroke-like episodes associated with mitochondrial disease.
Molla GK et al.
Frontiers in Neurology, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial.
Pekeles H et al.
Eclinicalmedicine, 2024
Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.
Saha D et al.
Mitochondrion, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A et al.
Genome Medicine, 2023
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
[Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations].
García-Cabo C et al.
Revista De Neurologia, 2023
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A et al.
Frontiers in Genetics, 2023
Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS et al.
Brain : a Journal of Neurology, 2022
Clinical and molecular spectrum associated with Polymerase-γ related disorders.
Jha R et al.
Journal of Child Neurology, 2022
Clinico-Genetic Spectrum of POLG1 Mutation Carriers from India.
Finsterer J
Journal of Molecular Neuroscience : Mn, 2022
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 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
Neuromitochondrial Disorders : Genomic Basis and an Algorithmic Approach to Imaging Diagnostics.
Senthilvelan S et al.
Clinical Neuroradiology, 2021
Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.
Trifunov S et al.
Clinical Chemistry, 2021
Rod bipolar cell dysfunction in POLG retinopathy.
Sanderson KG et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2021
Ketogenic diet in a patient with refractory status epilepticus due to POLG mutation.
Koessler M et al.
Jimd Reports, 2021
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Ahmadnia N et al.
Iranian Journal of Child Neurology, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Late-onset presentation of POLG1-associated mitochondrial disease.
Meira B et al.
Bmj Case Reports, 2019
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
Masingue M et al.
Mitochondrion, 2019
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
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
Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations.
DeBalsi KL et al.
The Journal of Biological Chemistry, 2017
Mitochondrial oxidative phosphorylation disorders in children: Phenotypic, genotypic and biochemical correlations in 85 patients from South India.
Sonam K et al.
Mitochondrion, 2017
Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.
McKiernan P et al.
Journal of Pediatric Gastroenterology and Nutrition, 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
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
Menezes MP et al.
Mitochondrion, 2016
The Spectrum of Mitochondrial Ultrastructural Defects in Mitochondrial Myopathy.
Vincent AE et al.
Scientific Reports, 2016
Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.
Bindu PS et al.
Mitochondrion, 2016
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes.
Fragaki K et al.
Biological Research, 2016
Magnetic resonance imaging correlates of genetically characterized patients with mitochondrial disorders: A study from south India.
Bindu PS et al.
Mitochondrion, 2015
The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication.
Macao B et al.
Nature Communications, 2015
The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
Scuderi C et al.
Neuromuscular Disorders : Nmd, 2015
Mitochondrial dysfunction and risk of cancer.
Lund M et al.
British Journal of Cancer, 2015
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015