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Joëlle Rudinger-Thirion Selected Research

Myopathy with lactic acidosis and sideroblastic anemia

12/2013Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia.
7/2010Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome.

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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