Associated Papers
Clinical and Genetic Analysis of Patients With TK2 Deficiency.
Ceballos F et al.
Neurology. Genetics, 2024
The Finnish genetic heritage in 2022 - from diagnosis to translational research.
Uusimaa J et al.
Disease Models & Mechanisms, 2022
Pathological Features in Paediatric Patients with TK2 Deficiency.
Jou C et al.
International Journal of Molecular Sciences, 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
Exome-Wide Search for Genes Associated With Central Nervous System Inflammatory Demyelinating Diseases Following CHIKV Infection: The Tip of the Iceberg.
Alves-Leon SV et al.
Frontiers in Genetics, 2021
The Results of Whole Exome Sequencing Performed On Previously Undiagnosed Pediatric Neurology Patients.
Ahmadnia N et al.
Iranian Journal of Child Neurology, 2021
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
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.
Wang J et al.
Molecular Genetics and Metabolism, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Clinical application of whole exome sequencing reveals a novel compound heterozygous TK2-mutation in two brothers with rapidly progressive combined muscle-brain atrophy, axonal neuropathy, and status epilepticus.
Knierim E et al.
Mitochondrion, 2015
Thymidine kinase 2 enzyme kinetics elucidate the mechanism of thymidine-induced mitochondrial DNA depletion.
Sun R et al.
Biochemistry, 2014
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion.
Lesko N et al.
Neuromuscular Disorders : Nmd, 2010
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