Accogli, Andrea, et al. “Clinical, Neuroradiological, and Molecular Characterization of Mitochondrial Threonyl-TRNA-Synthetase (TAR)-Related Disorder.”10.1016/j.gim.2023.100938__Genetics in Medicine, vol. 25, no. 11, 100938, Elsevier, 2023, doi:10.1016/j.gim.2023.100938.
LibreCat: https://research-explorer.ista.ac.at/record/14368
DOI: 10.1016/j.gim.2023.100938

Cali, Elisa, et al. “A Homozygous ME C-Terminal Variant Causes a Lethal Neurodegenerative Disease.”10.1016/j.gim.2022.07.013__Genetics in Medicine, vol. 24, no. 10, Elsevier, 2022, pp. 2194–203, doi:10.1016/j.gim.2022.07.013.
LibreCat: https://research-explorer.ista.ac.at/record/14355
DOI: 10.1016/j.gim.2022.07.013