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Browsing by Author Salviati, Leonardo

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RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessFeb-2006A Mutation in Para-Hydroxybenzoate-Polyprenyl Transferase (COQ2) Causes Primary Coenzyme Q10 DeficiencyQuinzii, Catarina; Naini, Ali; Salviati, Leonardo; Trevisson, Eva; Navas, Plácido ; DiMauro, Salvatore; Hirano, Michioartículo
openAccess2016 Brain 139-e3 Author vers.pdf.jpgJan-2016ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismPanza, Emanuele; Escamilla-Honrubia, Juan Manuel ; Marco-Marín, Clara ; Gougeard, Nadine ; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Nemeth, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente  ; Seri, Marcoartículo
closedAccess20-Mar-2008Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromesMontero, Raquel; Sánchez-Alcázar, José Antonio ; Briones, Paz; Rodríguez-Hernández, Ángeles ; Cordero, Mario D. ; Trevisson, Eva; Salviati, Leonardo; Pineda, Mercé; García-Cazorla, Angels; Navas, Plácido ; Artuch, Rafaelartículo
closedAccessaccesoRestringido.pdf.jpg2011Coenzyme Q deficiency in muscleTrevisson, Eva; DiMauro, Salvatore; Navas, Plácido ; Salviati, Leonardoartículo
openAccessCoenzyme_2009.pdf.jpg1-Jan-2009Coenzyme Q deficiency triggers mitochondria degradation by mitophagyRodríguez-Hernández, Ángeles ; Cordero, Mario D. ; Salviati, Leonardo; Artuch, Rafael; Pineda, Mercé; Briones, Paz; Gómez Izquierdo, Lourdes; Cotán, David ; Navas, Plácido ; Sánchez-Alcázar, José Antonio artículo
closedAccess2009Coenzyme Q10 deficiencies in neuromuscular diseasesArtuch, Rafael; Salviati, Leonardo; Jackson, Sandra; Navas, Plácido capítulo de libro
closedAccessaccesoRestringido.pdf.jpg2013Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromesMontero, Raquel; Briones, Paz; Artuch, Rafael; Pineda, Mercé; García-Cazorla, Angels; Salviati, Leonardo; Navas, Plácido artículo
closedAccess25-Nov-2008Coenzyme Q10 distribution in blood is altered in patients with FibromyalgiaCordero, Mario D. ; Moreno-Fernández, Ana M.; Miguel, Manuel de; Bonal, Pablo; Campa, Francisco; Jiménez-Jiménez, L. M.; Ruiz-Losada, A.; Sánchez-Domínguez, Benito; Sánchez-Alcázar, José Antonio ; Salviati, Leonardo; Navas, Plácido artículo
openAccessEffectvanillicacid.pdf.jpg2014Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiencyDoimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos ; Hildebrandt, Friedhelm; Navas, Plácido ; Salviati, Leonardoartículo
closedAccess18-May-2008Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesisCasarin, Alberto; Jiménez-Ortega, José Carlos ; Trevisson, Eva; Pertegato, Vanessa; Doimo, Mara; Ferrero-Gómez, María Lara; Abbadi, Sara; Artuch, Rafael; Quinzii, Catarina; Hirano, Michio; Basso, Giuseppe; Santos-Ocaña, Carlos ; Navas, Plácido ; Salviati, Leonardoartículo
closedAccess24-Aug-2009Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase MutationsTrevisson, Eva; Burlina, Alberto; Doimo, Mara; Pertegato, Vanessa; Casarin, Alberto; Cesaro, Luca; Navas, Plácido ; Basso, Giuseppe; Sartori, Geppo; Salviati, Leonardoartículo
openAccessHaploinsufficiency.pdf.jpg2012Haploinsufficiency of COQ4 causes coenzyme Q10 deficiencySalviati, Leonardo; Trevisson, Eva; Rodríguez-Hernández, Ángeles ; Casarin, Alberto; Pertegato, Vanessa; Doimo, Mara; Sartori, Geppo; Artuch, Rafael; Quinzii, Catarina; DiMauro, Salvatore; Hirano, Michio; Santos-Ocaña, Carlos ; Navas, Plácido artículo
closedAccess20-Mar-2007Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesisLópez-Martín, José M.; Salviati, Leonardo; Trevisson, Eva; Montini, Giovanni; DiMauro, Salvatore; Quinzii, Catarina; Hirano, Michio; Rodríguez-Hernández, Ángeles ; Cordero, Mario D. ; Sánchez-Alcázar, José Antonio ; Santos-Ocaña, Carlos ; Navas, Plácido artículo
openAccesshuman COQ5.pdf.jpg2014Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesisNguyen, Theresa P. T.; Casarin, Alberto; Desbats, María Andrea; Doimo, Mara; Trevisson, Eva; Santos-Ocaña, Carlos ; Navas, Plácido ; Clarke, Catherine F.; Salviati, Leonardoartículo
closedAccessaccesoRestringido.pdf.jpg2015Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failureDesbats, María Andrea; Casarin, Alberto; Doimo, Mara; Rodríguez-Hernández, Ángeles ; Trevisson, Eva; Navas, Plácido ; Zuffardi, Orsetta; Salviati, Leonardoartículo
closedAccess29-Jan-2008Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiencyQuinzii, Catarina; López, Luis C.; Von-Moltke, Jakob; Naini, Ali; Krishna, Sindu; Schuelke, Markus; Salviati, Leonardo; Navas, Plácido ; DiMauro, Salvatore; Hirano, Michioartículo
closedAccessaccesoRestringido.pdf.jpg2016Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 contentAsencio, Claudio ; Briones, Paz; Gavilán, Angela; Yubero, Delia; Montero, Raquel; Pineda, Mercé; Alcázar-Fabra, María; Salviati, Leonardo; Artuch, Rafael; Navas, Plácido artículo
openAccessSurvival transcriptome.pdf.jpg2013Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficienciesFernández-Ayala, Daniel J. M.; Guerra, Ignacio; Jiménez-Gancedo, Sandra; Cascajo Almenara, M. V. ; Gavilán, Angela; DiMauro, Salvatore; Hirano, Michio; Briones, Paz; Artuch, Rafael; Cabo, Rafael de; Salviati, Leonardo; Navas, Plácido artículo
closedAccessaccesoRestringido.pdf.jpg2016The COQ2 genotype predicts the severity of Coenzyme Q10 deficiencyDesbats, María Andrea; Doimo, Mara; Navas, Plácido ; Salviati, Leonardo; Trevisson, Evaartículo
openAccessOxiMedCelLong_2019_ID3904905.pdf.jpg10-Jul-2019Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6Acosta-López, Manuel J.; Trevisson, Eva; Canton, Marcella; Vázquez-Fonseca, Luis; Morbidoni, Valeria; Baschiera, Elisa; Frasson, Chiara; Ludovic, Pelosi; Rascalou, Bérengère; Desbats, Maria Andrea; Alcázar-Fabra, María; Ríos, José Julián; Sánchez-García, Alicia ; Basso, Giuseppe; Navas, Plácido ; Pierrel, Fabien; Brea-Calvo, Gloria ; Salviati, Leonardoartículo