Associated Papers
Dominant-negative NARS1 R534∗ mutation causes wild-type subunit poisoning and heterodimer predominance in cells.
Vallee I et al.
The Journal of Biological Chemistry, 2025
A systematic review of hereditary neurological disorders diagnosed by whole exome sequencing in Pakistani population: updates from 2014 to November 2024.
Ahmad R et al.
Neurogenetics, 2025
Aminoacyl-tRNA synthetase defects in neurological diseases.
Zhang H et al.
Iubmb Life, 2025
Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.
Ahmed AN et al.
Bmc Neurology, 2024
A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project.
Seaby EG et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
38245859 (PubMed )
Supplement: NIHMS2042813-supplement-Supplemental_Results.xlsx › Middle_priority
Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.
Beijer D et al.
Brain Communications, 2024
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy.
Shafique A et al.
Gene, 2023
Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.
Vinogradova ES et al.
Biochemistry. Biokhimiia, 2021
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Wang L et al.
Nature Communications, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A et al.
American Journal of Human Genetics, 2020
Select a paper to view details