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| Issue Date | Title | Author(s) |
|---|---|---|
| 14-Oct-2020 | The Value of Mouse Models of Rare Diseases: A Spanish Experience | Murillo Cuesta, Silvia; Artuch Iriberri, Rafael; Asensio, Fernando; Villa, Pedro de la; Dierssen, Mara; Enriquez, Jose Antonio; Fillat i Fonts, Cristina; Fourcade, Stéphane; Ibánez, Borja; Montoliu, Lluis; Oliver, Eduardo; Pujol Onofre, Aurora; Salido, Eduardo; Vallejo, Mario; Varela Nieto, Isabel; Working Group on Animal Models of Rare Diseases; Networking Center for Rare Diseases (CIBERER) |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 1-Jul-2023 | Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number | Oliva, Clara; Arias, Ángela; Ruiz, Montserrat;; Pujol Onofre, Aurora; Garrabou Tornos, Glòria; Cantó Santos, Judith; Urreizti, Roser; Castilla Vallmanya, Laura; Rodríguez González, Helena; Jou, Cristina; Casado Río, Mercedes; Ormazabal Herrero, Aida; Artuch Iriberri, Rafael |
| 6-Feb-2023 | IPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation | Tristá Noguero, Alba; Fernández Carasa, Irene; Calatayud, Carles; Bermejo Casadesús, Cristina; Pons Espinal, Meritxell; Colini Baldeschi, Arianna; Campa, Leticia; Artigas, Francesc; Bortolozzi, Analia; Domingo Jiménez, Rosario; Ibáñez, Salvador; Pineda, Mercè; Artuch Iriberri, Rafael; Raya, Ángel; García Cazorla, Àngels; Consiglio, Antonella |
| 30-Oct-2020 | Disrupted mitochondrial and metabolic plasticity underlie comorbidity between age-Related and degenerative disorders as parkinson disease and type 2 diabetes mellitus. | Juárez Flores, Diana Luz; Ezquerra, Mario; González Casacuberta, Ingrid; Ormazabal Herrero, Aida; Morén Núñez, Constanza; Tolosa, Eduardo; Fucho Salvador, Raquel; Guitart Mampel, Mariona; Casado, Mercedes; Valldeoriola Serra, Francesc; Torre Lara, Joan de la; Muñoz García, José Esteban; Tobías, Ester; Compta, Yaroslau; García-García, Francesc Josep; García Ruiz, Carmen; Fernández Checa Torres, José Carlos; Martí Domènech, Ma. Josep; Grau Junyent, Josep M. (Josep Maria); Cardellach, Francesc; Artuch Iriberri, Rafael; Fernández Santiago, Rubén; Garrabou Tornos, Glòria |
| 13-Aug-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 Ignacio; García Cazorla, Àngels; Gross, Claudia; O'Callaghan, Maria; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Thompson, Kyle; Navas, Placido; Ribes Rubió, Maria Antònia; Tort, Frederic; Schlüter, Agatha; Pujol Onofre, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez Mallebrera, Cecilia; Taylor, Robert W.; Artuch Iriberri, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita |
| Apr-2023 | Unraveling Inclusion Body Myositis Using a Patient-derived Fibroblast Model | Cantó Santos, Judith; Valls Roca, Laura; Tobías, Ester; García-García, Francesc Josep; Guitart Mampel, Mariona; Esteve Codina, Anna; Martín Mur, Beatriz; Casado, Mercedes; Artuch Iriberri, Rafael; Solsona Vilarrasa, Estel; Fernández Checa Torres, José Carlos; García Ruiz, Carmen; Rentero Alfonso, Carles; Enrich Bastús, Carles; Moreno Lozano, Pedro; Milisenda, José; Cardellach, Francesc; Grau Junyent, Josep M. (Josep Maria); Garrabou Tornos, Glòria |
| 26-Oct-2020 | Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases. | Molero Luis, Marta; Casas Alba, Dídac; Orellana, Gabriela; Ormazabal Herrero, Aida; Sierra, Cristina; Oliva, Clara; Valls, Anna; Velasco, Jesus; Launes Montaña, Cristian; Cuadras, Daniel; Pérez Dueñas, Belén; Jordán García, Iolanda; Cambra Lasaosa, Francisco José; Ortigoza Escobar, Juan D.; Muñoz Almagro, Carmen; Garcia-Cazorla, Àngels; Armangué, Thaís; Artuch Iriberri, Rafael |
| May-2022 | CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative | Luque, Juan; Mendes, Ingrid; Gómez, Beatriz; Morte, Beatriz; López de Heredia, Miguel; Herreras, Enrique; Corrochano, Virginia; Bueren, Juan; Gallano, Pía; Artuch Iriberri, Rafael; Fillat, Cristina; Pérez Jurado, Luis A.; Montoliu, Lluis; Carracedo Álvarez, Ángel; Millán, José M.; Webb, Susan M.; Palau, Francesc; The CIBERER Network; Lapunzina, Pablo |
| 1-Feb-2014 | Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies | Kalko, Susana; Paco Mercader, Sonia; Jou, Cristina; Rodríguez, María Angeles; Meznaric, Marija; Rogac, Mihael; Jekovec-Vrhovsek, Maja; Sciacco, Monica; Moggio, Maurizio; Fagiolari, Gigliola; De Paepe, Boel; De Meirleir, Linda; Ferrer, Isidro (Ferrer Abizanda); Roig Quilis, Manuel; Munell Casadesús, Francina; Montoya, Julio; López Gallardo, Ester; Ruiz Pesini, Eduardo; Artuch Iriberri, Rafael; Montero Sánchez, Raquel; Torner Rubies, Ferran; Nascimento, Andrés; Ortez, Carlos Ignacio; Colomer Oferil, Jaume; Jiménez Mallebrera, Cecilia |
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