Associated Papers
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF
Genetic testing in individuals with cerebral palsy.
May HJ et al.
Developmental Medicine and Child Neurology, 2021
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Xie Y et al.
Frontiers in Neurology, 2020
33381078 (PubMed )
Supplement: Data_Sheet_1.docx
Aminoacyl-tRNA synthetases as therapeutic targets.
Kwon NH et al.
Nature Reviews. Drug Discovery, 2019
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Boczonadi V et al.
Human Molecular Genetics, 2018
A novel mutation of the glycyl-tRNA synthetase (GARS) gene associated with Charcot-Marie-Tooth type 2D in a Chinese family.
Sun A et al.
Neurological Research, 2015
Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease.
McMillan HJ et al.
Bmc Medical Genetics, 2014
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