Browsing by Author Rudinger-Thirion, Joelle

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Issue DateTitleAuthor(s)Citation
2010Mutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA SyndromeChristodoulou, John; Cooper, Sandra; Bahlo, Melanie; Compton, Alison; Giege, Richard; Hickey, Peter; Lim, Sze Chern; McKenzie, Matthew; Riley, Lisa G.; Rudinger-Thirion, Joelle; Ryan, Michael T; Thorburn, David R.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthMutation of the Mitochondrial Tyrosyl-tRNA Synthetase Gene, YARS2, Causes Myopathy, Lactic Acidosis, and Sideroblastic Anemia-MLASA Syndrome, American Journal of Human Genetics, vol.87, 1, 2010,pp 52-59
2013Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemiaChristodoulou, John; Cooper, Sandra; Menezes, Minal; Riley, Lisa; Tchan, Michel; Davis, Mark; de Lonlay, Pascale; Duff, Rachael; Rotig, Agnes; Rudinger-Thirion, Joelle; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child Health; Vet Science Faculty; Western Clinical School: Medicine (Westmead)Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia, Orphanet Journal of Rare Diseases, vol.8, 1, 2013,pp 1-11