Associated Papers
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
DNA polymerase gamma variants and hepatotoxicity during maintenance therapy of childhood acute lymphoblastic leukemia: is there a causal relationship?
Harju T et al.
The Pharmacogenomics Journal, 2023
The Y831C Mutation of the POLG Gene in Dementia.
Borgione E et al.
Biomedicines, 2023
POLG1-related phenotypes are heterogeneous and progressive due to secondary mtDNA maintenance defects.
Finsterer J
The International Journal of Neuroscience, 2020
POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings.
Specchio N et al.
Brain Sciences, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 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
Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy.
Hynynen J et al.
Epilepsia, 2018
A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease.
Soini HK et al.
Bmc Medical Genetics, 2017
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
Tchikviladzé M et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2015
Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.
Baruffini E et al.
Mitochondrion, 2015
Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.
Komulainen T et al.
Jimd Reports, 2015
Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
Singh B et al.
Plos One, 2015
Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease.
Ylönen S et al.
Journal of Neurology, 2013
Dravet syndrome: new potential genetic modifiers, imaging abnormalities, and ictal findings.
Gaily E et al.
Epilepsia, 2013
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
Kinghorn KJ et al.
Journal of Neurology, 2013
Audiological follow-up of children with the m.1555A>G mutation in mitochondrial DNA.
Häkli S et al.
Audiology & Neuro-otology, 2013
Endothelial ultrastructural alterations of intramuscular capillaries in infantile mitochondrial cytopathies: "mitochondrial angiopathy".
Sarnat HB et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2012
Association of mitochondrial DNA polymerase γ gene POLG1 polymorphisms with parkinsonism in Chinese populations.
Gui YX 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
Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
Kasiviswanathan R et al.
Mitochondrion, 2011
POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
Komulainen T et al.
Bmc Neurology, 2010
Epidemiology and characteristics of occipital brain infarcts in young adults in southwestern Finland.
Martikainen MH et al.
Journal of Neurology, 2010
Digenic mutations in severe myoclonic epilepsy of infancy.
Bolszak M et al.
Epilepsy Research, 2009
Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.
Sudha D et al.
Ophthalmic Genetics, 0