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
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F et al.
Neurology. Genetics, 2024
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C et al.
International Journal of Molecular Sciences, 2022
36232299 (PubMed )
Supplement: ijms-23-11002-s001.zip › ijms-1887978-supplementary.pdf
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
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
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf
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