Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 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
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
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
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Novel POLG variants associated with late-onset de novo status epilepticus and progressive ataxia.
Ng YS et al.
Neurology. Genetics, 2017
Enrichment of deleterious variants of mitochondrial DNA polymerase gene (POLG1) in bipolar disorder.
Kasahara T et al.
Psychiatry and Clinical Neurosciences, 2017
Response to 'POLG1 mutations in bipolar disorders'.
Kato T et al.
Psychiatry and Clinical Neurosciences, 2017
DNA polymerase γ and disease: what we have learned from yeast.
Lodi T et al.
Frontiers in Genetics, 2015
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Sofou K et al.
Mitochondrion, 2013
Early muscle and brain ultrastructural changes in polymerase gamma 1-related encephalomyopathy.
Nolte KW et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2013
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.
Scalais E et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012
Phenotypic and genotypic variability in Alpers syndrome.
Sofou K et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2012
Overexpression of DNA polymerase zeta reduces the mitochondrial mutability caused by pathological mutations in DNA polymerase gamma in yeast.
Baruffini E et al.
Plos One, 2012
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
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 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
A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.
Szczepanowska K et al.
Human Molecular Genetics, 2010
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS et al.
Biochimica Et Biophysica Acta, 2009
Clinical and molecular features of mitochondrial DNA depletion syndromes.
Spinazzola A et al.
Journal of Inherited Metabolic Disease, 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
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
POLG1 mutations associated with progressive encephalopathy in childhood.
Kollberg G et al.
Journal of Neuropathology and Experimental Neurology, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R et al.
Brain : a Journal of Neurology, 2006