Associated Papers
Putative multiple myeloma susceptibility genes identified by exome sequencing of 347 familial and early-onset cases.
Pertesi M et al.
Leukemia, 2026
41254116 (PubMed )
Supplement: 41375_2025_2802_MOESM2_ESM.pdf
Inherited and de novo variants in young females potentially associated with pelvic organ prolapse.
Sadakierska-Chudy A et al.
American Journal of Obstetrics and Gynecology, 2025
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
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
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
Berardo A et al.
Journal of Neuromuscular Diseases, 2022
Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene.
Papadimas GK et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
Retrospective natural history of thymidine kinase 2 deficiency.
Garone C et al.
Journal of Medical Genetics, 2018
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
28957316 (PubMed )
Supplement: pgen.1006915.s002.xlsx › Table_S2
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
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
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