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Browsing by Author Pérez-Cerdá, Celia

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Showing results 1 to 13 of 13
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2013Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiencyPuisac, Beatriz; Teresa-Rodrigo, María-Esperanza; Arnedo, María; Gil-Rodríguez, María Concepción; Pérez-Cerdá, Celia; Ribes, Antonia; Pié, Ángeles; Bueno, Gloria; Gómez-Puertas, Paulino CSIC ORCID ; Pié, Juanartículo
openAccessPérezB_DPAGTI-CDGFunctionalAnalysis.pdf.jpg29-Jun-2017DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stressYuste-Checa, Patricia CSIC; Vega, Ana I.; Martín-Higueras, Cristina; Medrano, Celia; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC; Pérez-Cerdá, Celia; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpg2012DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotypeArroyo Carrera, Ignacio; Matthijs, Gert; Pérez, Belén; Pérez-Cerdá, Celiaartículo
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
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
openAccessgenes_lactic_acidosis_personalized_treatment.pdf.jpg1-Nov-2019Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatmentBravo-Alonso, Irene; Navarrete, Rosa; Vega, Ana Isabel; Ruíz-Sala, Pedro; García Silva, María Teresa; Martín-Hernández, Elena; Quijada-Fraile, Pilar; Belanger-Quintana, Amaya; Stanescu, Sinziana; Bueno, María; Vitoria, Isidro; Toledo, Laura; Couce, María Luz; García-Jiménez, Inmaculada; Ramos-Ruiz, Ricardo; Martín, Miguel Ángel; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén; Rodríguez-Pombo, Pilar CSICartículo
openAccessimproving_deseases_2018.pdf.jpg24-Jul-2018Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsBrasil, Sandra ORCID; Leal, Fátima; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. CSIC ORCID; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, Mari L.; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar CSIC; Ugarte, Magdalena CSIC; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpg2012Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)Casado, Mercedes; O'Callaghan, M.; Montero, Raquel; Pérez-Cerdá, Celia; Pérez, Belén; Briones, P.; Quintana, E.; Muchart, J.; Aracil, A.; Pineda, Mercé; Artuch, Rafaelartículo
openAccessPérezB_TheEffectsOfPMM2-CDG-CausingMutations.pdf.jpg2015The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 ProteinYuste-Checa, Patricia CSIC; Gámez, Alejandra CSIC ORCID; Brasil, Sandra ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC; Pérez-Cerdá, Celia; Pérez, Belénartículo
closedAccessFeb-2001The molecular basis of 3-methylcrotonylglycinuria, a disorder of the leucine catabolismGallardo, M. Esther CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Rodríguez, José M.; Esparza-Gordillo, Jorge; Pérez-Cerdá, Celia; Pérez, Belén; Rodríguez-Pombo, Pilar CSIC; Navarrete, Olga; Sanz, Raúl; Morton, D.Holmes; Criado-García, Olga CSIC ; Gibson, K.Michael; Le, Thuy P.; Ribes, Antonia; Rodríguez de Córdoba, Santiago CSIC ORCID ; Ugarte, Magdalena CSIC; Peñalva, Miguel Ángel CSIC ORCID artículo