Associated Papers
Short telomeres in mitochondrial DNA depletion disorders.
Dille Y et al.
Mitochondrion, 2026
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
The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.
Mantey I et al.
Genes, 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
Interpreting the clinical significance of multiple large-scale mitochondrial DNA deletions (MLSMD) in skeletal muscle tissue in the diagnostic evaluation of primary mitochondrial disease.
Wang J et al.
Frontiers in Pharmacology, 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
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Clinical and Molecular Features of POLG-Related Sensory Ataxic Neuropathy with Dysarthria and Ophthalmoparesis.
Li LX et al.
Journal of Molecular Neuroscience : Mn, 2021
A case of drug-induced parkinsonism and tardive akathisia with e1143g polymerase γ mutation-innocent bystander or a culprit?
Idiculla PS et al.
Journal of Clinical and Translational Research, 2021
Cerebral blood flow and acute episodes of Leigh syndrome in neurometabolic disorders.
Loiselet K et al.
Developmental Medicine and Child Neurology, 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
Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease.
Keller N et al.
Human Mutation, 2021
De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.
Lee Y et al.
Genes, 2021
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
Rantapero T et al.
Genes, 2020
The frequency of mitochondrial polymerase gamma related disorders in a large Polish population cohort.
Piekutowska-Abramczuk D et al.
Mitochondrion, 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
Late-onset presentation of POLG1-associated mitochondrial disease.
Meira B et al.
Bmj Case Reports, 2019
Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion.
Felhi R et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 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
Levodopa-Responsive Parkinsonism with Prominent Freezing and Abnormal Dopamine Transporter Scan Associated with SANDO Syndrome.
Batla A et al.
Movement Disorders Clinical Practice, 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
POLG1-related levodopa-responsive parkinsonism.
Miguel R et al.
Clinical Neurology and Neurosurgery, 2014
MMS exposure promotes increased MtDNA mutagenesis in the presence of replication-defective disease-associated DNA polymerase γ variants.
Stumpf JD et al.
Plos Genetics, 2014
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
Farnum GA et al.
Biochimica Et Biophysica Acta, 2014
Clinical and molecular features of POLG-related mitochondrial disease.
Stumpf JD et al.
Cold Spring Harbor Perspectives in Biology, 2013
Mitochondria and peripheral neuropathies.
Vital A et al.
Journal of Neuropathology and Experimental Neurology, 2012
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S et al.
Journal of Medical Genetics, 2011
Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.
Ferreira M et al.
Neuromuscular Disorders : Nmd, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae.
Stumpf JD et al.
Human Molecular Genetics, 2010
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
McHugh JC et al.
Muscle & Nerve, 2010
The unfolding clinical spectrum of POLG mutations.
Blok MJ et al.
Journal of Medical Genetics, 2009
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.
Cagnoli C et al.
Journal of Neurology, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
SANDO: two novel mutations in POLG1 gene.
Gago MF et al.
Neuromuscular Disorders : Nmd, 2006
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0
Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis.
Pronicki M et al.
Polish Journal of Pathology : Official Journal of the Polish Society of Pathologists, 0