Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy

Source
- (2024) p.
Author(s)

Exploring shared disease mechanisms underlying tRNA-synthetases associated peripheral neuropathies via standardized disease models

Source
Antwerp, University of Antwerp, Faculty of Pharmaceutical, Biomedical, and Veterinary Sciences, Department of Biomedical Sciences, 2024,190 p.
Author(s)

An adapted GeneSwitch toolkit for comparable cellular and animal models : a proof of concept in modeling Charcot-Marie-Tooth neuropathy

Source
International journal of molecular sciences - ISSN 1661-6596-24:22 (2023) p. 1-18
Author(s)

Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling

Source
Nature communications - ISSN 2041-1723-14:1 (2023) p. 1-19
Author(s)