Associated Papers
Biomarking MELAS with neurofilament light chain and circulating cell free mitochondrial DNA.
Maresca A et al.
Molecular Genetics and Metabolism, 2026
Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.
Singh P et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2026
NMR-based urinary biomarkers in pediatric primary mitochondrial disorders and chronic kidney disease: shared mitochondrial dysfunction, diverging biosignatures.
Paiva Coelho M et al.
Metabolomics : Official Journal of the Metabolomic Society, 2026
The emerging role of the paraventricular thalamic nucleus in bipolar disorder: Lessons from mitochondrial dysfunction.
Kato T et al.
Psychiatry and Clinical Neurosciences, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
Tinker RJ et al.
Jimd Reports, 2026
Tiny genome with big impact: mitochondrial DNA in cardiovascular health.
Yang Y et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Atypical clinical manifestation of MT-TL1 mutation in 6 months old patient.
Janiak J et al.
Acta Neurologica Belgica, 2025
Mitochondrial cardiomyopathies: pathogenesis, diagnosis, and treatment.
Maack C et al.
European Heart Journal, 2025
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features.
Tinker RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Widespread and progressive brain atrophy is a common feature in patients with mitochondrial disease.
Mickelsson N et al.
Journal of Neurology, 2025
Biological and translational attributes of mitochondrial DNA copy number: Laboratory perspective to clinical relevance.
Parchwani D et al.
World Journal of Methodology, 2025
Genetic Underpinnings of Mitochondrial Cardiomyopathy: A Scoping 2010-2024 Update.
Moudian I et al.
Dna and Cell Biology, 2025
Selective muscle MRI changes in a patient with a rare mitochondrial DNA variant causing myoclonic epilepsy with ragged red fibres.
Watson-Fargie T et al.
Neuromuscular Disorders : Nmd, 2025
Updates on Mitochondrial Myopathies.
Barca E et al.
Current Neurology and Neuroscience Reports, 2025
Tipping the balance: innate and adaptive immunity in mitochondrial disease.
Phillip West A et al.
Current Opinion in Immunology, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.
Stenton SL et al.
Hgg Advances, 2025
Therapies for Mitochondrial Disease: Past, Present, and Future.
Ball M et al.
Journal of Inherited Metabolic Disease, 2025
Mitochondrial DNA disease discovery through evaluation of genotype and phenotype data: The Solve-RD experience.
Ratnaike T et al.
American Journal of Human Genetics, 2025
Successful application of vagus nerve stimulation in super refractory status epilepticus associated with MERRF syndrome.
Baysal L et al.
Epilepsy & Behavior Reports, 2025
Delineating the mechanisms of cerebellar degeneration in paediatric and adult primary mitochondrial disease.
Smith LA et al.
Acta Neuropathologica, 2025
Mitochondrial dysfunction in epilepsy: mechanistic insights and clinical strategies.
Zhang X et al.
Molecular Biology Reports, 2025
Heightened sensitivity to adverse effects of metformin in mtDNA mutant patient cells.
Ryytty S et al.
Life Sciences, 2025
Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy.
John R et al.
Jcem Case Reports, 2025
Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments.
Magro G et al.
Biomedicines, 2025
Comprehensive analysis of GDF15 as a biomarker in primary mitochondrial myopathies.
Martín-Jimenez P et al.
Molecular Genetics and Metabolism, 2025
Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature.
Jiang Y et al.
World Journal of Pediatrics : Wjp, 2025
Disease registries and rare disorders: The virtuous example of mitochondrial medicine.
Orsucci D et al.
Experimental Neurology, 2025
Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients.
Muffels IJJ et al.
Iscience, 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
Implications of mtDNA in human health and diseases.
Seethashankar S et al.
Biotechnologia, 2025
Clinical features and treatment of stroke-like episodes in mitochondrial disease: a cohort-based study.
Mickelsson N et al.
Journal of Neurology, 2024
The clinical and genetic spectrum of mitochondrial diseases in China: A multicenter retrospective cross-sectional study.
Zhao Y et al.
Clinical Genetics, 2024
Immunometabolism in Endocrine Disorders Leads to a High Frequency of Diabetes Mellitus Caused by Heteroplasmic mtDNA Mutations.
Pandian A et al.
Obesity Surgery, 2024
Fetal and obstetrics manifestations of mitochondrial diseases.
Adelizzi A et al.
Journal of Translational Medicine, 2024
Primary mitochondrial diseases: The intertwined pathophysiology of bioenergetic dysregulation, oxidative stress and neuroinflammation.
Aguilar K et al.
European Journal of Clinical Investigation, 2024
The Role of Mitochondrial Copy Number in Neurodegenerative Diseases: Present Insights and Future Directions.
Cerantonio A et al.
International Journal of Molecular Sciences, 2024
Mitochondrial encephalopathies and myopathies: Our tertiary center's experience.
Ozlu C et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Mitochondrial DNA competition: starving out the mutant genome.
Spinazzola A et al.
Trends in Pharmacological Sciences, 2024
Mitochondrial myopathy without extraocular muscle involvement: a unique clinicopathologic profile.
Lin Y et al.
Journal of Neurology, 2024
Leigh syndrome: an adult presentation of a paediatric disease.
Watson-Fargie T et al.
Practical Neurology, 2024
Evidence for sodium valproate toxicity in mitochondrial diseases: a systematic analysis.
Ratnaike TE et al.
Bmj Neurology Open, 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
A case of mitochondrial myopathy and chronic progressive external ophthalmoplegia.
Liu H et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 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
Induced pluripotent stem cells: ex vivo models for human diseases due to mitochondrial DNA mutations.
Chen C et al.
Journal of Biomedical Science, 2023
Hearing Impairment and Neuroimaging Results in Mitochondrial Diseases.
Cadoni G et al.
Journal of Personalized Medicine, 2023