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Browsing by Author Richard, Eva

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Showing results 1 to 12 of 12
RightsPreviewIssue DateTitleAuthor(s)Type
openAccessDesviatLR_AlteredRedoxHomeostasis.pdf.jpg20-Mar-2018Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and HomocystinuriaRichard, Eva CSIC; Gallego-Villar, Lorena CSIC ORCID; Rivera-Barahona, Ana CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén; Rodríguez-Pombo, Pilar CSIC; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessCardiomyocytes_Alonso_PV_Art2021.pdf.jpg25-Jan-2021Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic AcidemiaAlonso-Barroso, Esmeralda; Pérez, Belén; Ruiz Desviat, Lourdes; Richard, Eva CSICartículo
openAccessDesviatLR_DysregulatedmiRNAsAndTheirPathogenic.pdf.jpg18-Jul-2017Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemiaRivera-Barahona, Ana CSIC; Fulgencio-Covián, Alejandro; Pérez-Cerdá, Celia; Ramos, Ricardo; Barry, Michael A; Ugarte, Magdalena CSIC; Pérez, Belén; Richard, Eva CSIC; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessRichardE_EndoplasmicReticulumStress.pdf.jpg9-Mar-2016Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defectsMartínez-Pizarro, Ainhoa; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC; Pérez, Belén; Richard, Eva CSICartículo
closedAccessaccesoRestringido.pdf.jpg2012Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemiaGallego-Villar, Lorena CSIC ORCID; Pérez-Cerdá, Celia; Pérez, Belén; Abia, David CSIC ORCID ; Ugarte, Magdalena CSIC; Richard, Eva CSIC; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessDesviatLR_GenerationAndCharacterization.pdf.jpg22-May-2019Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB geneLópez-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC; Pérez, Belén; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSICartículo
openAccessPérezB_GenerationandCharacterizationofaHuman.pdf.jpg16-Jul-2019Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC geneArribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Alvaro; Arroyo, Ignacio; Ugarte, Magdalena CSIC; Pérez, Belén; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC; Richard, Eva CSICartículo
openAccessDesviatLr_GenerationAndCharacterization.pdf.jpg22-Jul-2017Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneAlonso-Barroso, Esmeralda; Brasil, Sandra ORCID; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC; Pérez, Belén; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSICartículo
openAccessPérezB_GenerationAndCharactization.pdf.jpg5-Apr-2018Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB typeRichard, Eva CSIC; Brasil, Sandra ORCID; Briso-Montiano, Alvaro; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC; Desviat, Lourdes R. CSIC ORCID; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpg1-Jan-2020Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemiaTamayo, María; Fulgencio-Covián, A.; Navarro-García, Jose A.; Val-Blasco, Almudena; Ruiz-Hurtado, Gema; Gil-Fernández, Marta; Martín-Nunes, Laura; López, Juan A.; Desviat, Lourdes R. CSIC ORCID; Delgado, Carmen CSIC ORCID; Richard, Eva CSIC; Fernández-Velasco, María CSIC ORCIDartículo
openAccessPérezB_MethylmalonicAciduriaCBIB.pdf.jpg2015Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studiesBrasil, Sandra ORCID; Richard, Eva CSIC; Jorge-Finnigan, A.; Leal, Fátima; Merinero, Begoña CSIC; Banerjee, R.; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpg2013Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defectsRichard, Eva CSIC; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC; Pérez, Belénartículo