Associated Papers
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
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-s002.xlsx › adults_patients
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
Splicing variants in NARS2 are associated with milder phenotypes and intra-familial variability.
Ait-El-Mkadem Saadi S et al.
European Journal of Medical Genetics, 2022
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
New genetic causes for complex hereditary spastic paraplegia.
Souza PVS et al.
Journal of the Neurological Sciences, 2017
Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.
Simon M et al.
Plos Genetics, 2015
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
Vanlander AV et al.
Human Mutation, 2015
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