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
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
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM13_ESM.xlsx › Predicted_Neoantigens
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