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Joëlle Rudinger-Thirion Selected Research

glutaminyl-tRNA synthetase

2/2022A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.

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Joëlle Rudinger-Thirion Research Topics

Disease

2Muscular Diseases (Myopathy)
12/2013 - 07/2010
2Lactic Acidosis
12/2013 - 07/2010
2Myopathy with lactic acidosis and sideroblastic anemia
12/2013 - 07/2010
1Epilepsy (Aura)
02/2022
1Atrophy
02/2022
1Brain Diseases (Brain Disorder)
02/2022
1Microcephaly
02/2022
1Seizures (Absence Seizure)
02/2022
1Mitochondrial Diseases (Mitochondrial Disease)
12/2019
1Sideroblastic Anemia
07/2010
1Malaria
01/2010

Drug/Important Bio-Agent (IBA)

2Tyrosine-tRNA LigaseIBA
12/2013 - 07/2010
1Carbamazepine (Tegretol)FDA LinkGeneric
02/2022
1Pharmaceutical PreparationsIBA
02/2022
1glutaminyl-tRNA synthetaseIBA
02/2022
1Amino Acyl-tRNA Synthetases (Aminoacyl-tRNA Synthetase)IBA
02/2022
1Lactic Acid (Lactate)FDA LinkGeneric
12/2019
1Mitochondrial DNA (mtDNA)IBA
12/2013
1Proteins (Proteins, Gene)FDA Link
01/2010