Associated Papers
An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia.
Wu J et al.
Translational Neurodegeneration, 2023
37106376 (PubMed )
Supplement: 40035_2023_353_MOESM1_ESM.pdf
Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.
Kalotay E et al.
Frontiers in Neuroscience, 2023
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.
Setlere S et al.
Neurology. Genetics, 2022
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.
Høyer H et al.
Bmc Neurology, 2022
Expanded phenotype of AARS1-related white matter disease.
Helman G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.
Vinogradova ES et al.
Biochemistry. Biokhimiia, 2021
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ et al.
Genes & Genomics, 2020
Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.
Martin PB et al.
Brain Research, 2020
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
Sundal C et al.
Acta Neuropathologica Communications, 2019
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
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities.
Weterman MAJ et al.
Human Molecular Genetics, 2018
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