Associated Papers
Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.
Squires JE et al.
Hepatology Communications, 2023
Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2-related mitochondrial disease.
Poquérusse J et al.
Jimd Reports, 2023
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
Expanding the electro-clinical phenotype of CARS2associated neuroregression.
Kapoor D et al.
Epilepsy & Behavior Reports, 2021
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin CR et al.
Journal of Medical Genetics, 2015
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