Associated Papers
Neonatal diabetes mellitus is a significant feature of COXPD-24 caused by recessive NARS2 variants.
Donis R et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage.
Khodaeian M et al.
Journal of Clinical Laboratory Analysis, 2023
Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report.
Finsterer J et al.
Cureus, 2023
Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.
Vafaee-Shahi M et al.
Irish Journal of Medical Science, 2022
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
The phenotypic variability and natural history of NARS2 associated disease.
Sofou K et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.
Li H et al.
Frontiers in Pharmacology, 2021
Whole exome sequencing reveals mutations in NARS2 and PARS2, encoding the mitochondrial asparaginyl-tRNA synthetase and prolyl-tRNA synthetase, in patients with Alpers syndrome.
Sofou K et al.
Molecular Genetics & Genomic Medicine, 2015
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