Associated Papers
Short telomeres in mitochondrial DNA depletion disorders.
Dille Y et al.
Mitochondrion, 2026
Genetic diagnostic yield by MRI pattern in children with cerebral palsy: a population-based study.
Berry JG et al.
Ebiomedicine, 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
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
Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.
Corrà S et al.
Nature Communications, 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
Protein Nitration in Patients with Mitochondrial Diseases.
Livramento JB et al.
Antioxidants (basel, Switzerland), 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
Understanding Parkinson disease in Spain: Genetic and clinical insights.
Gómez-Garre P et al.
European Journal of Neurology, 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
Phenotype and genotype in hereditary chronic intestinal pseudo-obstruction with small intestine involvement.
Chen Y et al.
Frontiers in Medicine, 2025
Mitochondrial Dysfunction in Sickle Cell Trait Carriers With Exertional Collapse.
Cofer KA et al.
Case Reports in Genetics, 2025
A Scoping Review of POLG-Related Cerebellar Ataxia: Insights and Clinical Perspectives.
Kalampokini S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2025
Parkinson's Disease Pathogenic Variants: Cross-Ancestry Analysis and Microarray Data Validation.
Hong S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Clinical features and treatment of stroke-like episodes in mitochondrial disease: a cohort-based study.
Mickelsson N et al.
Journal of Neurology, 2024
'The phenotypic conundrum of Trp748Ser variant in POLG gene: a report of two patients'.
Rathore A et al.
Acta Neurologica Belgica, 2024
Fetal and obstetrics manifestations of mitochondrial diseases.
Adelizzi A et al.
Journal of Translational Medicine, 2024
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Rötig A et al.
Neurology. Genetics, 2024
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.
Kristensen E et al.
Annals of Clinical and Translational Neurology, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Npj Parkinson's Disease, 2024
The Saccharomyces cerevisiae mitochondrial DNA polymerase and its contribution to the knowledge about human POLG-related disorders.
Gilea AI et al.
Iubmb Life, 2023
A novel mouse model of mitochondrial disease exhibits juvenile-onset severe neurological impairment due to parvalbumin cell mitochondrial dysfunction.
Olkhova EA et al.
Communications Biology, 2023
Hepatic presentations of mitochondrial DNA depletion syndrome in children: A single tertiary liver centre experience.
Vara R et al.
Journal of Inherited Metabolic Disease, 2023
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023