Rosalba Carrozzo

1. 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 · Medicine · #ATP Synthase and ATPases Research #Biology #Cardiomyopathy #Encephalopathy #Gene #Genetics #Heart failure #Hypertrophic cardiomyopathy #Internal medicine #Lactic acidosis #Medicine #Metabolism and Genetic Disorders #Mitochondrial Function and Pathology #Pathology #Translation (biology)
2. MtDNA Mutations Associated with Leber′s Hereditary Optic Neuropathy: Studies on Cytoplasmic Hybrid (Cybrid) Cells
   1995/05/01 by Lodovica Vergani, L. Vergani, A. Martinuzzi +12 · 14 citations
   Biochemistry, Genetics and Molecular Biology · #ATP Synthase and ATPases Research #Biology #Gene #Genetics #Leber's hereditary optic neuropathy #Missense mutation #Mitochondrial DNA #Mitochondrial Function and Pathology #Mitochondrial respiratory chain #Mitochondrion #Molecular biology #Mutation #Photosynthetic Processes and Mechanisms #Point mutation #Respiratory chain
3. Succinate‐CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
   2015/10/16 by Rosalba Carrozzo, Daniela Verrigni, Magnhild Rasmussen +31 · 1 citation
   Biochemistry, Genetics and Molecular Biology · Neuroscience · Medicine · #Genomics and Rare Diseases #Metabolism and Genetic Disorders #Neurological diseases and metabolism #Genotype #Phenotype #Human genetics #Genetics #DNA ligase #Medicine #Biology #Internal medicine #Gene