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Mitochondrial aminoacyl‐tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We… Expand BackgroundPontocerebellar hypoplasia type 6 (PCH6) is a mitochondrial disease caused by mutations in the RARS2 gene. RARS2… Expand INTRODUCTION
Early onset epileptic encephalopathies (EOEEs) are a group of devastating diseases, manifesting in the first year of… Expand Intellectual disability is a heterogeneous disease with many genes and mutations influencing the phenotype. Consanguineous… Expand Pontocerebellar hypoplasia (PCH) is characterized by hypoplasia and atrophy of the cerebellum, variable pontine atrophy… Expand Abstract Pontocerebellar hypoplasia is a group of severe developmental disorders with prenatal onset affecting the growth and… Expand Mutations in the recently described RARS2 gene encoding for mitochondrial arginyl-transfer RNA synthetase give rise to a disorder… Expand Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset… Expand Pontocerebellar hypoplasia type 6 (PCH6) (MIM #611523) is a recently described disorder caused by mutations in RARS2 (MIM *611524… Expand Pontocerebellar hypoplasia is a group of autosomal recessive neurodegenerative disorders with prenatal onset. The common… Expand