Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.
Volpi J et al.
European Journal of Human Genetics : Ejhg, 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 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
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
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
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.
Li H et al.
Frontiers in Pharmacology, 2021
Epilepsy syndromes, etiologies, and the use of next-generation sequencing in epilepsy presenting in the first 2 years of life: A population-based study.
Stödberg T et al.
Epilepsia, 2020
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
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
Rantapero T et al.
Genes, 2020
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations.
Masingue M et al.
Mitochondrion, 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
Phenotype-driven gene prioritization for rare diseases using graph convolution on heterogeneous networks.
Rao A et al.
Bmc Medical Genomics, 2018
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
The wide POLG-related spectrum: An integrated view.
Béreau M et al.
Journal of the Neurological Sciences, 2016
Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team.
Saneto RP
Journal of Multidisciplinary Healthcare, 2016
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 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
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Sofou K et al.
Mitochondrion, 2013
Clinical and molecular features of POLG-related mitochondrial disease.
Stumpf JD et al.
Cold Spring Harbor Perspectives in Biology, 2013
Next-generation sequencing for mitochondrial diseases: a wide diagnostic spectrum.
Vasta V et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2012
Initial experience in the treatment of inherited mitochondrial disease with EPI-743.
Enns GM et al.
Molecular Genetics and Metabolism, 2012
Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.
McCoy B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2011
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Euro L et al.
Nucleic Acids Research, 2011
Alpers syndrome with mutations in POLG: clinical and investigative features.
Hunter MF et al.
Pediatric Neurology, 2011
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S et al.
Journal of Medical Genetics, 2011
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
Swalwell H et al.
European Journal of Human Genetics : Ejhg, 2011
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype.
Mehta AR et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2011
Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
Baruffini E et al.
Mitochondrion, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Stroke and Stroke-Like Symptoms in Patients with Mutations in the POLG1 Gene.
Brinjikji W et al.
Jimd Reports, 2011
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE et al.
Nature Genetics, 2010
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
Kasiviswanathan R et al.
Methods (san Diego, Calif.), 2010
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
Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA.
Smet J et al.
Electrophoresis, 2009
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
Kasiviswanathan R et al.
The Journal of Biological Chemistry, 2009
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome.
Naess K et al.
Biochimica Et Biophysica Acta, 2009