Ann Saada

1. Deleterious Mutation in the Mitochondrial Arginyl–Transfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
   2007/09/07 by Simon Edvardson, Avraham Shaag, Olga Kolesnikova +7 · 35 citations
   Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders
2. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene
   2009/09/01 by Avraham Zeharia, Avraham Shaag, Orit Pappo +12 · 30 citations
   Biochemistry, Genetics and Molecular Biology · #RNA modifications and cancer #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology
3. Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
   2014/11/26 by Robert Kopajtich, Thomas J. Nicholls, Thomas J. Nicholls +62 · 29 citations
   Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #Metabolism and Genetic Disorders #ATP Synthase and ATPases Research
4. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation
   2015/11/11 by Ronen Spiegel, Ann Saada, Padraig J. Flannery +18 · 27 citations
   Biochemistry, Genetics and Molecular Biology · Medicine · #Mitochondrial Function and Pathology #ATP Synthase and ATPases Research #Cardiomyopathy and Myosin Studies