Associated Papers
Compound heterozygosity of a novel missense variant and exonic deletion in hypomyelinating leukodystrophy 15.
Mitsutake A et al.
Neurogenetics, 2026
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
Decoding the impact of disease-causing mutations in an essential aminoacyl-tRNA synthetase.
Sissler M
The Journal of Biological Chemistry, 2021
The zinc-binding domain of mammalian prolyl-tRNA synthetase is indispensable for catalytic activity and organism viability.
Vasu K et al.
Iscience, 2021
Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.
Mendes MI et al.
American Journal of Human Genetics, 2018
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