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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.
Lee B et al.
The Journal of Molecular Diagnostics : Jmd, 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
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
Utility of Gene Panels for the Diagnosis of Inborn Errors of Metabolism in a Metabolic Reference Center.
Barbosa-Gouveia S et al.
Genes, 2021
34440436 (PubMed )
Supplement: genes-12-01262-s001.zip › genes-1321555-supplementary.pdf
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
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.
Dulak AM et al.
Nature Genetics, 2013
23525077 (PubMed )
Supplement: NIHMS474888-supplement-5.xlsx › S._Table_15
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