Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG77
Adult-onset combined oxidative phosphorylation deficiency type 14 manifests as epileptic status: a new phenotype and literature review.
Zhang X et al.
Bmc Neurology, 2024
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine.
Oswald SL et al.
Neuropediatrics, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Case report: A novel FARS2 deletion and a missense variant in a child with complicated, rapidly progressive spastic paraplegia.
Panzeri E et al.
Frontiers in Genetics, 2023
Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.
Li L et al.
European Journal of Medical Research, 2022
Neuropathy-associated Fars2 deficiency affects neuronal development and potentiates neuronal apoptosis by impairing mitochondrial function.
Chen X et al.
Cell & Bioscience, 2022
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival.
Barcia G et al.
European Journal of Human Genetics : Ejhg, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar
FARS2 mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei.
Sahai SK et al.
Annals of Clinical and Translational Neurology, 2018
New insights into the phenotype of FARS2 deficiency.
Vantroys E et al.
Molecular Genetics and Metabolism, 2017
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