Disease on EC 6.1.1.19 - arginine-tRNA ligase
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DISEASE 
TITLE OF PUBLICATION
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arginine-trna ligase deficiency
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
Brain Diseases
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings.
Brain Diseases
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
Brain Diseases
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Brain Diseases
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Brain Diseases
RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?
Brain Diseases
[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Brain Edema
Knockdown of Arginyl-tRNA Synthetase Attenuates Ischemia-Induced Cerebral Cortex Injury in Rats After Middle Cerebral Artery Occlusion.
Carcinoma, Hepatocellular
Neoplastic transformation-linked alterations in arginyl-tRNA synthetase activity.
Cardiomyopathies
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Drug Resistant Epilepsy
[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Epilepsies, Myoclonic
A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report.
Epilepsies, Myoclonic
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.
Gastroenteritis
Identification of a gamma interferon-activated inhibitor of translation-like RNA motif at the 3' end of the transmissible gastroenteritis coronavirus genome modulating innate immune response.
Hydrops Fetalis
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Infarction, Middle Cerebral Artery
Knockdown of Arginyl-tRNA Synthetase Attenuates Ischemia-Induced Cerebral Cortex Injury in Rats After Middle Cerebral Artery Occlusion.
Intellectual Disability
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.
Intellectual Disability
Novel mutations in WWOX, RARS2, and C10orf2 genes in consanguineous Arab families with intellectual disability.
Ischemic Stroke
Knockdown of Arginyl-tRNA Synthetase Attenuates Ischemia-Induced Cerebral Cortex Injury in Rats After Middle Cerebral Artery Occlusion.
Leukemia, Lymphocytic, Chronic, B-Cell
miR-15a and miR-16-1 down-regulation in pituitary adenomas.
Malaria
Dimerization of Arginyl-tRNA Synthetase by Free Heme Drives Its Inactivation in Plasmodium falciparum.
Microcephaly
A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report.
Microcephaly
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Microcephaly
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
Microcephaly
[Early onset epileptic encephalopathy caused by mitochondrial arginyl-tRNA synthetase gene deficiency: report of two cases and literature review].
Mitochondrial Diseases
Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations.
Mitochondrial Diseases
Novel homozygous RARS2 mutation in two siblings without pontocerebellar hypoplasia - further expansion of the phenotypic spectrum.
Mitochondrial Encephalomyopathies
Cerebellar hypoplasia and brainstem thinning associated with severe white matter and basal ganglia abnormalities in a child with an mtDNA deletion.
Myoclonic Epilepsies, Progressive
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.
nadh:ubiquinone reductase (h+-translocating) deficiency
Mitochondrial disease and epilepsy.
Neurodegenerative Diseases
RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia.
Neurologic Manifestations
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.
pantoate-beta-alanine ligase (amp-forming) deficiency
Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic.
Seizures
A term neonate with early myoclonic encephalopathy caused by RARS2 gene variants: a case report.
Seizures
Expanding spectrum of RARS2 gene disorders: Myoclonic epilepsy, mental retardation, spasticity, and extrapyramidal features.
Seizures
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
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