Associated Papers
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 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
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Mitochondrial Parkinsonism: A Practical Guide to Genes and Clinical Diagnosis.
Lopriore P et al.
Movement Disorders Clinical Practice, 2024
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
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
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Mazzaccara C et al.
Biomolecules, 2022
Patient-derived models recapitulate heterogeneity of molecular signatures and drug response in pediatric high-grade glioma.
He C et al.
Nature Communications, 2021
Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Tise CG et al.
American Journal of Medical Genetics. Part A, 2021
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
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
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Bird MJ et al.
Metabolites, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Whole-exome sequencing as a powerful tool for identifying genetic causes in a patient with POLG-related disorders and phenylketonuria.
Li L et al.
The Journal of International Medical Research, 2019
POLG-related disorders and their neurological manifestations.
Rahman S et al.
Nature Reviews. Neurology, 2019
An evaluation of genetic causes and environmental risks for bilateral optic atrophy.
Chen AT et al.
Plos One, 2019
Metabolomes of mitochondrial diseases and inclusion body myositis patients: treatment targets and biomarkers.
Buzkova J et al.
Embo Molecular Medicine, 2018
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
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
Premature Ovarian Failure in French Canadian Leigh Syndrome.
Ghaddhab C et al.
The Journal of Pediatrics, 2017
Mitochondrial disease and endocrine dysfunction.
Chow J et al.
Nature Reviews. Endocrinology, 2017
Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.
DeBalsi KL et al.
Ageing Research Reviews, 2017
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
Thal DR et al.
International Journal of Molecular Sciences, 2015
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
Mapping 136 pathogenic mutations into functional modules in human DNA polymerase γ establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
Farnum GA et al.
Biochimica Et Biophysica Acta, 2014
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
Rouzier C et al.
European Journal of Human Genetics : Ejhg, 2014
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Swoboda KJ et al.
American Journal of Medical Genetics. Part A, 2014
Variations of mitochondrial DNA polymerase γ in patients with Parkinson's disease.
Ylönen S et al.
Journal of Neurology, 2013
Mitochondrial dysfunction in migraine.
Yorns WR et al.
Seminars in Pediatric 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 in Australian patients with mitochondrial disease.
Woodbridge P et al.
Internal Medicine Journal, 2013
POLG mutations and age at menopause.
Duncan AJ et al.
Human Reproduction (oxford, England), 2012
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
Polymerase gamma 1 mutations: clinical correlations.
Milone M et al.
The Neurologist, 2010
The unfolding clinical spectrum of POLG mutations.
Blok MJ et al.
Journal of Medical Genetics, 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
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