Lucia Valente

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 · 199 citations · Full text

Infantile Encephalopathy, Mitochondrial Biogenesis, Mitochondrial Function +7

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Erika Fernández‐Vizarra, Angela Berardinelli, Lucia Valente et al. · Journal of Medical Genetics · 2006 · 147 citations · Full text

Phenotype modulators in myophosphorylase deficiency

Andrea Martinuzzi, Elena Sartori, Annachiara Nascimbeni et al. · Annals of Neurology · 2003 · 114 citations

Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy

Maura Floreani, Eleonora Napoli, Andrea Martinuzzi et al. · FEBS Journal · 2005 · 106 citations

Genetics, Molecular Biology, Severe Oxidative Stress +18

Identification of novel mutations in five patients with mitochondrial encephalomyopathy

Lucia Valente, Daniela Piga, Eleonora Lamantea et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2008 · 101 citations

Mitochondrial Myopathy, Mendelian Disorder, Mitochondrial Function +8