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Browsing by Author Nascimento, Andrés

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RightsPreviewIssue DateTitleAuthor(s)Type
openAccess2013 JIMD Rep 7-123.pdf.jpg6-Jul-20125-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense ChangesCalpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2019Clinical presentation and proteomic signature of patients with TANGO2 mutationsMingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos; García‐Cazorla, Angels; Gross, Claudia; O'Callaghan, María; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Kyle, Thompson; Navas, Plácido CSIC ORCID; Ribes, Antonia; Tort, Frederic; Schlüter, Agatha; Pujol, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez‐Mallebrera, Cecilia; Taylor, Robert W.; Artuch, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Ritaartículo
closedAccessaccesoRestringido.pdf.jpgAug-2019Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient MyopathyDomínguez‐González, Cristina; Madruga, Marcos; Mavillard, Fabiola; Garone, Caterina; Aguirre-Rodríguez, Francisco Javier; Donati, M. Alice; Kleinsteuber, Karin; Martí, Itxaso; Martín-Hernández, Elena; Morealejo‐Aycinena, Juan P.; Munell, Francina; Nascimento, Andrés; Kalko, Susana Graciela; Sardina, M. Dolores; Álvarez del Vayo Benito, Concepción; Serrano, Olga; Long, Yuelin; Tu, Yuqi; Levin, Bruce; Thompson, John L. P.; Engelstad, Kristen; Uddin, Jasim; Torres‐Torronteras, Javier; Jiménez‐Mallebrera, Cecilia; Martí, Ramón; Paradas, Carmen; Hirano, Michioartículo
openAccessTK2_ deficient.pdf.jpg22-Jun-2020Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyDomínguez-Gonzalez, Cristina; Badosa, María Carmen; Madruga, Marcos; Martí, Itxaso; Paradas, Carmen; Ortez, Carlos; Díaz-Manera, Jordi; Berardo, Andrés; Alonso-Pérez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana Graciela; Blázquez-Bermejo, Cora; Cámara, Yolanda; Martí, Ramón; Mavillard, Fabiola; Martín, Miguel Ángel; Montoya, Julio; Ruiz-Pesini, Eduardo; Villarroya, Joan; Montero, Raquel; Villarroya, Francesc; Artuch, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez-Mallebrera, Ceciliaartículo
openAccessUndiagnosed_Patients.pdf.jpg11-May-2020Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in SpainGonzález-Quereda, Lidia; Rodríguez, María José; Díaz-Manera, Jordi; Alonso-Pérez, Jorge; Gallardo, Eduard; Nascimento, Andrés; Ortez, Carlos; Natera-de Benito, Daniel; Olivé, Montse; González-Mera, Laura; López de Munain, Adolfo; Zulaica, Miren; Poza, Juan José; Jericó, Ivonne; Torne, Laura; Riera, Pau; Milisenda, José; Sánchez, Aurora; Garrabou, Gloria; Llano, Isabel; Madruga, Marcos; Gallano, Piaartículo