Associated Papers
Nutrient and endocrine factors affecting impaired growth in pediatric mitochondrial diseases.
Yagasaki H et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2026
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
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
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
Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.
Yagasaki H et al.
American Journal of Medical Genetics. Part A, 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
α-Kinase 2 is a novel candidate gene for inherited hypertension in Dahl rats.
Chauvet C et al.
Journal of Hypertension, 2011
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