Associated Papers
Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells.
Vallee I et al.
The Journal of Biological Chemistry, 2025
Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Record CJ et al.
Brain : a Journal of Neurology, 2024
SARS1 (SerRS) Causing De Novo Dominant Charcot-Marie-Tooth Disease with Slow Conduction.
Record CJ et al.
Annals of Neurology, 2023
Heterozygous Seryl-tRNA Synthetase 1 Variants Cause Charcot-Marie-Tooth Disease.
He J et al.
Annals of Neurology, 2023
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