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
[Super-refractory status epilepticus caused by hereditary mitochondrial disease].
Sørensen NB et al.
Ugeskrift for Laeger, 2026
Metformin Restores Mitochondrial Function and Neurogenesis in POLG Patient-Derived Brain Organoids.
Zhang Z et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Juvenile/adult-onset POLG-related disease unmasked by valproate-associated fulminant hepatic failure.
Mathavan A et al.
Bmj Case Reports, 2025
Editing stem cell genomes at scale to measure variant effects in diverse cell and genetic contexts.
Fayer S et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
A feasibility study of whole genome germline testing as an adjunct screening tool in a UK general private practice.
Jones AB et al.
Scientific Reports, 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
Palatal tremor as the clue sign of POLG-related syndrome.
Satolli S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.
Rusecka JM et al.
Journal of Applied Genetics, 2025
Tipping the balance: innate and adaptive immunity in mitochondrial disease.
Phillip West A et al.
Current Opinion in Immunology, 2025
FGF14 (GAA∙TTC) repeat expansion-related ataxia SCA27B is common in Northern Finland.
Kytövuori L et al.
Parkinsonism & Related Disorders, 2025
Hypertrophic inferior olivary nucleus degeneration and peri-dentate hyperintensities in POLG mutation.
Saluja A et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Geographic and age variations in mutational processes in colorectal cancer.
Díaz-Gay M et al.
Nature, 2025
Precision Grounding: Augmenting Large Language Models with Evidence-Based Databases for Trustworthy Genetic Variant Summarization.
Du X et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
The genetic landscape of pediatric postural orthostatic tachycardia syndrome.
Qu H et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2025
Small molecules restore mutant mitochondrial DNA polymerase activity.
Valenzuela S et al.
Nature, 2025
Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.
Smith LA et al.
Acta Neuropathologica, 2025
Couple-Based Carrier Screening: How Gene and Variant Considerations Impact Outcomes.
Lee E et al.
Genes, 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
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
Presentation, Treatment, and Outcome of a First Stroke-like Episode in a Carrier of the Compound Heterozygous Variants c.695G_A and c.2209G_C in POLG: A Case Report.
Zieglgänsberger D et al.
Cureus, 2025
POLG epilepsy presenting as new-onset refractory status epilepticus (NORSE) in pregnancy.
Levee V et al.
Practical Neurology, 2025
Mitochondrial diseases: from molecular mechanisms to therapeutic advances.
Wen H et al.
Signal Transduction and Targeted Therapy, 2025
COVID-19 Infection as a Possible Trigger for POLG-Related Mitochondrial Disease: A Case Report.
Suroviaková S et al.
Cureus, 2025