Claudia Donnini

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola, Carlo Viscomi, Erika Fernández‐Vizarra et al. · Nature Genetics · 2006 · 418 citations

Life Sciences, Genetics, Molecular Biology +8

Infantile Encephalopathy and Defective Mitochondrial DNA Translation in Patients with Mutations of Mitochondrial Elongation Factors EFG1 and EFTu

Lucia Valente, Valeria Tiranti, Renè Massimiliano Marsano et al. · The American Journal of Human Genetics · 2006 · 204 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA

John W. Yarham, Tek N. Lamichhane, Angela Pyle et al. · PLoS Genetics · 2014 · 135 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Association between low‐activity serotonin transporter genotype and heroin dependence: Behavioral and personality correlates

Gilberto Gerra, Luciano Garofano, Gianluca Santoro et al. · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · 2004 · 122 citations

Life Sciences, Behavioral Sciences, Psychiatry +17

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Christopher A. Powell, Robert Kopajtich, Aaron R. D’Souza et al. · The American Journal of Human Genetics · 2015 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17