Enrico Baruffini
- Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
2012/05/17 by Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack +13 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Mitochondrial Function and Pathology #ATP Synthase and ATPases Research #Cardiomyopathy and Myosin Studies
- Novel (ovario) leukodystrophy related to AARS2 mutations
2014/05/08 by Cristina Dallabona, Daria Diodato, Sietske H. Kevelam +27 · 2 citations
Biochemistry, Genetics and Molecular Biology · #RNA regulation and disease #Mitochondrial Function and Pathology #RNA and protein synthesis mechanisms