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 · 204 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

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 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotype modulators in myophosphorylase deficiency

Andrea Martinuzzi, Elena Sartori, Annachiara Nascimbeni et al. · Annals of Neurology · 2003 · 115 citations

Life Sciences, Genetics, Molecular Genetics +16

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 · 107 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 102 citations

Life Sciences, Genetics, Molecular Genetics +14