Associated Papers
Insights into phenotypic variability caused by GARS1 pathogenic variants.
Jiménez-Jiménez J et al.
European Journal of Neurology, 2024
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
37180992 (PubMed )
Supplement: fcad139_supplementary_data.zip › Supplementary_Table_1_and_Supplementary_References.docx
Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
Wu C et al.
Annals of Clinical and Translational Neurology, 2022
Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor, in a Zebrafish Model of Neuromuscular Junction Disorders.
Jeong HS et al.
Molecules and Cells, 2022
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
Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.
Frasquet M et al.
European Journal of Neurology, 2021
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz R et al.
American Journal of Medical Genetics. Part A, 2020
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.
Mo Z et al.
Nature Communications, 2018
29520015 (PubMed )
Supplement: 41467_2018_3461_MOESM2_ESM.pdf
[Analysis of a Chinese Charcot-Marie-Tooth disease type 2D pedigree].
Sun B et al.
Zhonghua Yi Xue Za Zhi, 2017
The insertion domain 1 of class IIA dimeric glycyl-tRNA synthetase is a rubredoxin-like zinc ribbon.
Kaur G et al.
Journal of Structural Biology, 2015
Rare variants in methionyl- and tyrosyl-tRNA synthetase genes in late-onset autosomal dominant Charcot-Marie-Tooth neuropathy.
Hyun YS et al.
Clinical Genetics, 2014
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
Lee HJ et al.
Journal of the Peripheral Nervous System : Jpns, 2012
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