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
Pyrimidine Nucleos(t)ide Therapy in Patients With Thymidine Kinase 2 Deficiency: A Multicenter Retrospective Chart Review Study.
Domínguez-González C et al.
Neurology, 2025
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
Protein Nitration in Patients with Mitochondrial Diseases.
Livramento JB et al.
Antioxidants (basel, Switzerland), 2025
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
Pearls & Oy-sters: Case Report of a Patient With Adult-Onset Thymidine Kinase 2 Gene Deficiency.
Morganroth J et al.
Neurology, 2023
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
Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene.
Hernández-Ainsa C et al.
Stem Cell Research, 2022
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
Berardo A et al.
Journal of Neuromuscular Diseases, 2022
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
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang J et al.
Molecular Genetics and Metabolism, 2018
Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNA.
Rusecka J et al.
Journal of Applied Genetics, 2018
Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Sun R et al.
Biochemistry, 2014
Deoxyribonucleoside kinases in mitochondrial DNA depletion.
Saada-Reisch A
Nucleosides, Nucleotides & Nucleic Acids, 2004