Associated Papers
A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders.
Zioudi A et al.
Mitochondrion, 2025
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia.
Liu H et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2023
Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication.
Rahman MM et al.
The Journal of Biological Chemistry, 2022
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
A high prevalence of arterial hypertension in patients with mitochondrial diseases.
Chong-Nguyen C et al.
Journal of Inherited Metabolic Disease, 2020
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Identification of the first homozygous POLG mutation causing non-syndromic ovarian dysfunction.
Chen B et al.
Climacteric : the Journal of the International Menopause Society, 2018
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database.
Nurminen A et al.
Bba Clinical, 2017
Genetics of mitochondrial dysfunction and infertility.
Demain LA et al.
Clinical Genetics, 2017
The DNA Polymerase Gamma R953C Mutant Is Associated with Antiretroviral Therapy-Induced Mitochondrial Toxicity.
Li M et al.
Antimicrobial Agents and Chemotherapy, 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
Defects of mitochondrial DNA replication.
Copeland WC
Journal of Child Neurology, 2014
Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease.
Ylönen S et al.
Journal of Neurology, 2013
POLG mutations and age at menopause.
Duncan AJ et al.
Human Reproduction (oxford, England), 2012
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
Tang S et al.
Journal of Neurology, 2012
POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.
Gurgel-Giannetti J et al.
Muscle & Nerve, 2012
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.
Stumpf JD et al.
Cellular and Molecular Life Sciences : Cmls, 2011
Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.
Tong ZB et al.
Fertility and Sterility, 2010
Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.
Isokpehi RD et al.
Bioinformatics and Biology Insights, 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
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
Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.
Remes AM et al.
Parkinsonism & Related Disorders, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.
Yamanaka H et al.
The Journal of Infectious Diseases, 2007
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Luoma P et al.
Lancet (london, England), 0
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0