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
A pseudo-homozygous missense variant and Alu-mediated exon 5 deletion in FARS2 causing spastic paraplegia 77.
Lin SH et al.
Annals of Clinical and Translational Neurology, 2024
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
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
FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.
Forman EB et al.
Journal of Child Neurology, 2019
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