Associated Papers
Exploring Outcome Measures for Mitochondrial Myopathies; Insights From a Longitudinal Study on TK2 Deficiency.
Martín-Jimenez P et al.
Journal of Inherited Metabolic Disease, 2026
Novel biallelic TK2 mutations cause mitochondrial DNA depletion syndrome with infantile early-onset lipid storage myopathy.
Li D et al.
Orphanet Journal of Rare Diseases, 2025
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.
Moreno CAM et al.
Scientific Reports, 2025
Protein Nitration in Patients with Mitochondrial Diseases.
Livramento JB et al.
Antioxidants (basel, Switzerland), 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F 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
Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile.
Poli MC et al.
European Journal of Human Genetics : Ejhg, 2024
Safety and efficacy of deoxycytidine/deoxythymidine combination therapy in POLG-related disorders: 6-month interim results of an open-label, single arm, phase 2 trial.
Pekeles H et al.
Eclinicalmedicine, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F et al.
Neurology. Genetics, 2024
Structural Organization of the Retriever-CCC Endosomal Recycling Complex.
Boesch DJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases.
Gedikbasi A et al.
Frontiers in Genetics, 2023
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL et al.
Nature Communications, 2022
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C et al.
International Journal of Molecular Sciences, 2022
Metrics of progression and prognosis in untreated adults with thymidine kinase 2 deficiency: An observational study.
Domínguez-González C et al.
Neuromuscular Disorders : Nmd, 2022
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
Domínguez-González C et al.
Journal of Neurology, 2022
Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review.
Valiente-Pallejà A et al.
Ebiomedicine, 2022
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
Berardo A et al.
Journal of Neuromuscular Diseases, 2022
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.
Laine-Menéndez S et al.
International Journal of Molecular Sciences, 2021
Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency.
de Fuenmayor-Fernández de la Hoz CP et al.
Molecular Genetics and Metabolism Reports, 2021
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C et al.
Annals of Neurology, 2019
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
Domínguez-González C et al.
Orphanet Journal of Rare Diseases, 2019
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C et al.
Journal of Medical Genetics, 2018
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino M et al.
Bmc Medical Genetics, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Mazurova S et al.
Cardiology in the Young, 2017
Affection of the Respiratory Muscles in Combined Complex I and IV Deficiency.
Finsterer J et al.
The Open Neurology Journal, 2017
Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Sun R et al.
Biochemistry, 2014
Mitochondrial DNA depletion in single fibers in a patient with novel TK2 mutations.
Roos S et al.
Neuromuscular Disorders : Nmd, 2014
Deoxyribonucleoside kinases in mitochondrial DNA depletion.
Saada-Reisch A
Nucleosides, Nucleotides & Nucleic Acids, 2004
Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.
Chanprasert S et al.
Molecular Genetics and Metabolism, 0
Myopathic mtDNA Depletion Syndrome Due to Mutation in TK2 Gene.
Martín-Hernández E et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
Author's Reply: TK2-related Myopathic Mitochondrial Depletion Syndrome.
Martín-Hernández E et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0