English   español  

Browsing by Author Merinero, Begoña

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 9 of 9
RightsPreviewIssue DateTitleAuthor(s)Type
closedAccessaccesoRestringido.pdf.jpg2013A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine DiseaseOyarzábal, Alfonso CSIC ORCID; Martínez Pardo, Mercedes; Merinero, Begoña CSIC; Navarrete, Rosa; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessRejasMT_DatasetReportingBCKDKInterferenceInaBCAA.pdf.jpg15-Mar-2016Dataset reporting BCKDK interference in a BCAA-catabolism restricted environmentBravo-Alonso, I; Oyarzábal, Alfonso CSIC ORCID; Sánchez-Aragó, María CSIC; Rejas, M. Teresa CSIC ; Merinero, Begoña CSIC; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCIDartículo
openAccessPérezB_GenerationAndCharactization.pdf.jpg5-Apr-2018Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB typeRichard, Eva CSIC ORCID; Brasil, Sandra ORCID; Briso-Montiano, Alvaro; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Pérez, Belénartículo
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 ORCID; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén; Rodríguez-Pombo, Pilar CSIC ORCIDartículo
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 ORCID; Ugarte, Magdalena CSIC ORCID; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpg2010Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic archRivera, Henry; Merinero, Begoña CSIC; Ruiz-Sala, Pedro; Bornstein, Belén CSIC; Gallardo, M. Esther CSIC ORCID; Garesse, Rafael CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Martín, Miguel A.artículo
openAccessPérezB_MethylmalonicAciduriaCBIB.pdf.jpg2015Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studiesBrasil, Sandra ORCID; Richard, Eva CSIC ORCID; Jorge-Finnigan, A.; Leal, Fátima; Merinero, Begoña CSIC; Banerjee, R.; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpgMay-2010Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.Morán, María José; Rivera, Henry; Sánchez-Aragó, María CSIC; Blázquez, Alberto; Merinero, Begoña CSIC; Ugalde, Cristina; Arenas, Joaquín; Cuezva, José M. CSIC ORCID; Martín, Miguel A.artículo
closedAccessaccesoRestringido.pdf.jpg2012Novel features in the evolution of adenylosuccinate lyase deficiencyPérez-Dueñas, Belén; Sempere, Ángela; Campistol, Jaume; Alonso-Colmenero, Itziar; Díez, María; González, Verónica CSIC ORCID; Merinero, Begoña CSIC; Desviat, Lourdes R. CSIC ORCID; Artuch, Rafaelartículo