The phenotypic variability and natural history of NARS2 associated disease
Author:
Funder
Göteborgs Universitet
Sahlgrenska Akademin
Publisher
Elsevier BV
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
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3. Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome;Simon;PLoS Genet.,2015
4. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2);Vanlander;Hum. Mutat.,2015
5. Genetic determinants of survival in patients with Alzheimer’s disease;Wang;J Alzheimers Dis,2015
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1. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;BMC Pediatrics;2024-02-03
2. Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage;Journal of Clinical Laboratory Analysis;2023-11
3. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;2023-09-19
4. Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report;Cureus;2023-08-23
5. A new entity in the NARS2 variant: the first reported case of type 1 diabetes mellitus associated with the phenotype;Journal of Tropical Pediatrics;2022-12-05
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