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Molecular Genetics and Metabolism Reports|September 14, 2020
Ethylmalonic encephalopathy: Clinical course and therapy response in an uncommon mild case with a severe ETHE1 mutationMelike Ersoy, Valeria Tiranti, Massimo ZevianiBiochimica Et Biophysica Acta|March 14, 2015
Emerging concepts in the therapy of mitochondrial diseaseCarlo Viscomi, Emanuela Bottani, Massimo ZevianiJournal of Neurology|March 22, 2015
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutationsMaria A Rocca, Stefania Bianchi-Marzoli, Roberta Messina, et al.Biochimica Et Biophysica Acta|July 16, 2008
Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defectsErika Fernández-Vizarra, Valeria Tiranti, Massimo ZevianiAmerican Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.Handbook of Clinical Neurology|August 11, 2011
Ataxia in mitochondrial disordersMassimo Zeviani, Alessandro Simonati, Laurence A BindoffNeuromuscular Disorders : NMD|February 12, 2008
Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and ItaliansAntonella Spinazzola, Valeria Massa, Michio Hirano, et al.Frontiers in Genetics|February 22, 2020
RNase H1 Regulates Mitochondrial Transcription and Translation via the Degradation of 7S RNAAurelio Reyes, Joanna Rusecka, Katarzyna Tońska, et al.Biochimica Et Biophysica Acta|June 16, 2009
The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complexLucia Valente, Narumi Shigi, Tsutomu Suzuki, et al.Mitochondrion|February 7, 2007
Depletion of mtDNA: syndromes and genesSimona Alberio, Rossana Mineri, Valeria Tiranti, et al.Pageof 36