Associated Papers
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
Meyer AP et al.
Human Mutation, 2022
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
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Xie Y et al.
Frontiers in Neurology, 2020
[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement].
Kawakami N et al.
Rinsho Shinkeigaku = Clinical Neurology, 2014
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