Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Pathogenic variants reveal candidate genes for prostate cancer germline testing for men of African ancestry.
Gheybi K et al.
Nature Communications, 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
Host genetic susceptibility underlying SARS-CoV-2-associated Multisystem Inflammatory Syndrome in Brazilian Children.
Santos-Rebouças CB et al.
Molecular Medicine (cambridge, Mass.), 2022
Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.
Hou Y et al.
Molecular Genetics & Genomic Medicine, 2022
Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.
Kohaar I et al.
Nature Communications, 2022
Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.
Kurtz J et al.
Case Reports in Genetics, 2021
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
The presence of anaemia negatively influences survival in patients with POLG disease.
Hikmat O et al.
Journal of Inherited Metabolic Disease, 2017
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
Roos S et al.
Human Molecular Genetics, 2013
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 DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Tang S et al.
Journal of Medical Genetics, 2011
Novel POLG splice site mutation and optic atrophy.
Milone M et al.
Archives of Neurology, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
Two novel POLG mutations causing hepatic mitochondrial DNA depletion with recurrent hypoketotic hypoglycaemia and fatal liver dysfunction.
Bortot B et al.
Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver, 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
Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.
Zsurka G et al.
Journal of Neuropathology and Experimental Neurology, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Mitochondrial hepatopathies: advances in genetics and pathogenesis.
Lee WS et al.
Hepatology (baltimore, Md.), 2007
Molecular diagnosis of Alpers syndrome.
Nguyen KV et al.
Journal of Hepatology, 2006