Associated Papers
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Ratnaike TE et al.
European Journal of Human Genetics : Ejhg, 2025
Compound heterozygous variants of the NARS2 gene in siblings with refractory seizures: two case report and literature review.
Wu H et al.
Frontiers in Pediatrics, 2025
Stroke-like lesion and status epilepticus in a child with NARS2-related combined oxidative phosphorylation deficiency 24.
Su S et al.
Frontiers in Neurology, 2025
Investigation in yeast of novel variants in mitochondrial aminoacyl-tRNA synthetases WARS2, NARS2, and RARS2 genes associated with mitochondrial diseases.
Figuccia S et al.
Human Molecular Genetics, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.
Khodaeian M et al.
Journal of Clinical Laboratory Analysis, 2023
Study of novel NARS2 variants in patient of combined oxidative phosphorylation deficiency 24.
Zhang Y et al.
Translational Pediatrics, 2022
Clinical and genetic analyses of premature mitochondrial encephalopathy with epilepsia partialis continua caused by novel biallelic NARS2 mutations.
Hu W et al.
Frontiers in Neuroscience, 2022
Novel variants in the NARS2 gene as a cause of infantile-onset severe epilepsy leading to fatal refractory status epilepticus: case study and literature review.
Štěrbová K et al.
Neurogenetics, 2021
Exome sequencing utility in defining the genetic landscape of hearing loss and novel-gene discovery in Iran.
Mohseni M et al.
Clinical Genetics, 2021
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