Associated Papers
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.
Laurie S et al.
Nature Medicine, 2025
39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.
Nam DE et al.
Journal of the Peripheral Nervous System : Jpns, 2022
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants.
Forrester N et al.
Journal of Neuromuscular Diseases, 2020
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Xie Y et al.
Frontiers in Neurology, 2020
Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.
Wei N et al.
The Journal of Biological Chemistry, 2019
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Boczonadi V et al.
Human Molecular Genetics, 2018
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