Associated Papers
Childhood-Onset Neurodegeneration With Progressive Microcephaly (CONPM) due to a DTYMK Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra-Rare Disease.
Raúl HC et al.
American Journal of Medical Genetics. Part A, 2025
DTYMK is essential for genome integrity and neuronal survival.
Vanoevelen JM et al.
Acta Neuropathologica, 2022
Structural and functional analysis of human thymidylate kinase isoforms.
Hu Frisk J et al.
Nucleosides, Nucleotides & Nucleic Acids, 2022
Biochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity.
Frisk JH et al.
Acs Omega, 2021
Select a paper to view details