Associated Papers
A Patient with a Novel RARS2 Variant Exhibiting Liver Involvement as a New Clinical Feature and Review of the Literature.
Sevinç S et al.
Molecular Syndromology, 2022
Infantile-onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype.
de Valles-Ibáñez G et al.
Epilepsia Open, 2022
Distinct magnetic resonance imaging features in a patient with novel RARS2 mutations: A case report and review of the literature.
Zhang J et al.
Experimental and Therapeutic Medicine, 2018
A familial late‑onset hereditary ataxia mimicking pontocerebellar hypoplasia caused by a novel TSEN54 mutation.
Qian Y et al.
Molecular Medicine Reports, 2014
Pathogenic implications of human mitochondrial aminoacyl-tRNA synthetases.
Schwenzer H et al.
Topics in Current Chemistry, 2014
Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2.
Glamuzina E et al.
Journal of Inherited Metabolic Disease, 2012
Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
Namavar Y et al.
Orphanet Journal of Rare Diseases, 2011
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
Namavar Y et al.
Brain : a Journal of Neurology, 2011
Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
Rankin J et al.
American Journal of Medical Genetics. Part A, 2010
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