Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review.
Rossi M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Inherited DNA Repair Gene Mutations in Men with Lethal Prostate Cancer.
Rantapero T et al.
Genes, 2020
POLG R964C and GBA L444P mutations in familial Parkinson's disease: Case report and literature review.
Hsieh PC et al.
Brain and Behavior, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.
Buzkova J et al.
Embo Molecular Medicine, 2018
Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.
Peeva V et al.
Nature Communications, 2018
Genetic risk factors in Finnish patients with Parkinson's disease.
Ylönen S et al.
Parkinsonism & Related Disorders, 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
Mitochondrial disease and endocrine dysfunction.
Chow J et al.
Nature Reviews. Endocrinology, 2017
Peripheral neuropathy and parkinsonism: a large clinical and pathogenic spectrum.
Vital A et al.
Journal of the Peripheral Nervous System : Jpns, 2014
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
Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders.
Palin EJ et al.
Brain : a Journal of Neurology, 2013
POLG mutations and age at menopause.
Duncan AJ et al.
Human Reproduction (oxford, England), 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
Genes involved in human premature ovarian failure.
Persani L et al.
Journal of Molecular Endocrinology, 2010
The mitochondrial DNA polymerase in health and disease.
Copeland WC
Sub-cellular Biochemistry, 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
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.
Invernizzi F et al.
Neuromuscular Disorders : Nmd, 2008
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.
Graziewicz MA et al.
Human Molecular Genetics, 2007
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
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
Pagnamenta AT et al.
Human Reproduction (oxford, England), 2006
Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes.
Kasahara T et al.
Molecular Psychiatry, 2006
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
Wanrooij S et al.
Nucleic Acids Research, 2004
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Luoma P et al.
Lancet (london, England), 0