Associated Papers
Short telomeres in mitochondrial DNA depletion disorders.
Dille Y et al.
Mitochondrion, 2026
Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.
Szabo M et al.
Brain : a Journal of Neurology, 2026
Myoclonus in Pediatric Metabolic Diseases: Clinical Spectrum, Mechanisms, and Treatable Causes-A Systematic Review.
Majewska E et al.
Metabolites, 2026
[Super-refractory status epilepticus caused by hereditary mitochondrial disease].
Sørensen NB et al.
Ugeskrift for Laeger, 2026
Severe Adult-Onset POLG-Related Hemidystonia Responding to Pallidal Deep Brain Stimulation.
Anis S et al.
Movement Disorders Clinical Practice, 2026
Metformin Restores Mitochondrial Function and Neurogenesis in POLG Patient-Derived Brain Organoids.
Zhang Z et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
Juvenile/adult-onset POLG-related disease unmasked by valproate-associated fulminant hepatic failure.
Mathavan A et al.
Bmj Case Reports, 2025
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
A Tunisian POLG mutation expands the clinical spectrum of POLG-related disorders.
Zioudi A et al.
Mitochondrion, 2025
Characterization of Novel POLG Mutations in Mitochondrial Encephalomyopathy: Pathogenic Validation and Comprehensive Genetic Profiling.
Zhou F et al.
Brain and Behavior, 2025
Liver Involvement in POLG Disease-a Multicentre Cohort Study of 202 Patients.
Kristensen E et al.
Journal of Inherited Metabolic Disease, 2025
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.
Rusecka JM et al.
Journal of Applied Genetics, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Small molecules restore mutant mitochondrial DNA polymerase activity.
Valenzuela S et al.
Nature, 2025
The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single-Centre Study.
Kilmer J et al.
European Journal of Neurology, 2025
Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.
Smith LA et al.
Acta Neuropathologica, 2025
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.
Corrà S et al.
Nature Communications, 2025
In vitro modelling of the neuropathophysiological features of mitochondrial epilepsy.
Smith LA et al.
Seizure, 2025
Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Forghani I et al.
Genes, 2025
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.
Schott C et al.
Genes, 2025
Knockdown of POLG Mimics the Neuronal Pathology of Polymerase-γ Spectrum Disorders in Human Neurons.
Çakmak Durmaz Ç et al.
Cells, 2025
Geographic and age-related variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A mutation in DNA polymerase γ harbors a shortened lifespan and high sensitivity to mutagens in the filamentous fungus Neurospora crassa.
Yoshihara R et al.
Genetics, 2025
The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative.
Mantey I et al.
Genes, 2025
Disease registries and rare disorders: The virtuous example of mitochondrial medicine.
Orsucci D et al.
Experimental Neurology, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
POLG epilepsy presenting as new-onset refractory status epilepticus (NORSE) in pregnancy.
Levee V et al.
Practical Neurology, 2025