Associated Papers
From variant interpretation to structural discovery: A new Zinc-binding domain in PARS2.
Hoebeke C et al.
Mitochondrion, 2026
Intracranial calcifications simulating Aicardi-Goutières syndrome in PARS2-related mitochondrial disease.
Gerard A et al.
American Journal of Medical Genetics. Part A, 2024
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-s004.xlsx › children_patients
Novel mutation in PARS2 revealed highly variable phenotype of developmental and epileptic encephalopathy-75.
Hu X et al.
Gene, 2024
Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike-and-wave activation in sleep.
Licchetta L et al.
Molecular Genetics & Genomic Medicine, 2024
Case Report: Lethal mitochondrial cardiomyopathy linked to a compound heterozygous variant of PARS2.
Jing S et al.
Frontiers in Cardiovascular Medicine, 2024
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A
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
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E et al.
Journal of Translational Medicine, 2016
Select a paper to view details