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
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort.
Moreno CAM et al.
Scientific Reports, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Remarkable clinical improvement with oral nucleoside treatment in a patient with adult-onset TK2 deficiency: A case report.
Bermejo-Guerrero L et al.
Mitochondrion, 2024
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F et al.
Neurology. Genetics, 2024
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
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
Select a paper to view details