| Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
| openAccess |  | 6-jul-2012 | 5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes | Calpena, Eduardo CSIC ORCID; Casado, Mercedes; Martínez-Rubio, Dolores CSIC ORCID; Nascimento, Andrés; Colomer, Jaume; Gargallo, Eva; García-Cazorla, Angels; Palau Martínez, Francesc CSIC ORCID; Artuch, Rafael; Espinós, Carmen CSIC ORCID | artículo |
| closedAccess |  | 2019 | Clinical presentation and proteomic signature of patients with TANGO2 mutations | Mingirulli, 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, Rita | artículo |
| closedAccess |  | ago-2019 | Deoxynucleoside Therapy for Thymidine Kinase 2–Deficient Myopathy | Domínguez‐González, Cristina; Madruga, Marcos CSIC; Mavillard, Fabiola CSIC ORCID; Garone, Caterina; Aguirre-Rodríguez, Francisco Javier; Donati, Maria 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 CSIC; 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 CSIC ORCID; Hirano, Michio | artículo |
| openAccess |  | jun-2023 | Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events | Segarra-Casas, Alba; Domínguez-Gonzalez, Cristina; Hernández-Laín, Aurelio; Sánchez-Calvin, María Teresa; Camacho, Ana CSIC; Rivas, Eloy; Campo-Barasoain, Andrea; Madruga, Marcos CSIC; Ortez, Carlos; Natera-de Benito, Daniel; Nascimento, Andrés; Codina, Anna; Rodríguez, Maria Isabel; Gallano, Pia; González-Quereda, Lidia | artículo |
| openAccess |  | 22-jun-2020 | Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy | Domínguez-Gonzalez, Cristina; Badosa, María Carmen; Madruga, Marcos CSIC; Martí, Itxaso; Paradas, Carmen CSIC ORCID; 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 CSIC ORCID; Martín, Miguel Ángel; Montoya, Julio; Ruiz-Pesini, Eduardo; Villarroya, Joan; Montero, Raquel; Villarroya, Francesc; Artuch, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez-Mallebrera, Cecilia | artículo |
| openAccess |  | 28-mar-2023 | Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy | Codina, Anna; Roldán, Mònica; Natera-de Benito, Daniel; Ortez, Carlos; Planas, Robert; Matalonga, Leslie; Cuadras, Daniel; Carrera, Laura; Exposito, Jesica; Marquez, Jesús; Jiménez-Mallebrera, Cecilia; Porta, Josep M. CSIC ORCID ; Nascimento, Andrés; Jou, Cristina | artículo |
| openAccess |  | 11-may-2020 | Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain | González-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, Glòria; Llano, Isabel; Madruga, Marcos CSIC; Gallano, Pia | artículo |
