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
High Diagnostic Yield and Clinical Utility of Next-Generation Sequencing in Children with Epilepsy and Neurodevelopmental Delays: A Retrospective Study.
Charouf D et al.
International Journal of Molecular Sciences, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Nogueira C et al.
Frontiers in Cell and Developmental Biology, 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
A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype.
Cokyaman T et al.
Journal of Tropical Pediatrics, 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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder.
Mizuguchi T et al.
Journal of Human Genetics, 2017