Associated Papers
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Hu X et al.
Gene, 2024
Clinical Attributes and Electroencephalogram Analysis of Patients With Varying Alpers' Syndrome Genotypes.
Li H et al.
Frontiers in Pharmacology, 2021
PARS2-associated mitochondrial disease: A case report of a patient with prolonged survival and literature review.
A Almuqbil M et al.
Molecular Genetics and Metabolism Reports, 2020
The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy.
Yin X et al.
Journal of Human Genetics, 2018
Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.
Ciara E et al.
Journal of Human Genetics, 2018
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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