Associated Papers
Short telomeres in mitochondrial DNA depletion disorders.
Dille Y et al.
Mitochondrion, 2026
The genetic architecture of Parkinson's disease on the Island of Crete.
Boura I et al.
Npj Parkinson's Disease, 2025
Late Adulthood Onset POLG Disease Presenting as Spastic Paraplegia: A Pathophysiological Continuum?
Jha S et al.
Acta Neurologica Belgica, 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
Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.
Brashear AM et al.
Scientific Reports, 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
Genetic Underpinnings of Mitochondrial Cardiomyopathy: A Scoping 2010-2024 Update.
Moudian I et al.
Dna and Cell Biology, 2025
Whole genome sequencing analysis in primary lateral sclerosis (PLS) patients reveals mutations in neurological diseases-causing genes.
Manini A et al.
Journal of Neurology, 2025
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.
Rusecka JM et al.
Journal of Applied Genetics, 2025
Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.
Repiská G et al.
Genes, 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
The genetic landscape of sporadic adult-onset degenerative ataxia: a multi-modal genetic study of 377 consecutive patients from the longitudinal multi-centre SPORTAX cohort.
Beijer D et al.
Ebiomedicine, 2025
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 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
Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.
Bonato G et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 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
The Genetic Architecture of Parkinson's Disease in Morocco: Highlighting a Predominance of Mendelian Genes.
Bouhouche A et al.
Neuro-degenerative Diseases, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Nationwide, Couple-Based Genetic Carrier Screening.
Kirk EP et al.
The New England Journal of Medicine, 2024
Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear genome.
Ambrose A et al.
Orphanet Journal of Rare Diseases, 2024
Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.
Lafraoui I et al.
International Journal of Molecular Sciences, 2024
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 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
A stagewise response to mitochondrial dysfunction in mitochondrial DNA maintenance disorders.
Vincent AE et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Importance of Genetic Testing in Children With Generalized Epilepsy.
Heebner M et al.
Cureus, 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
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Loss-of-function mitochondrial DNA polymerase gamma variants cause vascular smooth muscle cells to secrete a diffusible mitogenic factor.
Rothwell S et al.
Frontiers in Physiology, 2024
The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.
Kong XF et al.
Scientific Reports, 2023
A Next-Generation Sequencing Study in a Cohort of Sicilian Patients with Parkinson's Disease.
Salemi M et al.
Biomedicines, 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
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
Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy.
Koh HY et al.
Jama Network Open, 2023
Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.
Angelova P et al.
American Journal of Medical Genetics. Part A, 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
Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD).
Pinto E Vairo F et al.
Journal of Translational Medicine, 2023
NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly.
Pomarino D et al.
Global Medical Genetics, 2023
Gene Panel Sequencing Analysis Revealed a Strong Contribution of Rare Coding Variants to the Risk of Parkinson's Disease in Sporadic Moroccan Patients.
Smaili I et al.
Journal of Molecular Neuroscience : Mn, 2023
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Mavraki E et al.
European Journal of Human Genetics : Ejhg, 2023
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
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