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Issue DateTitleAuthor(s)
1-Jul-2023Fibroblast phenylalanine concentration as a surrogate biomarker of cellular numberOliva, 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
23-Nov-2021Antibody conversion rates to SARS-CoV-2 in saliva from children attending summer schools in Barcelona, Spain.Dobaño, Carlota, 1969-; Alonso, Selena; Fernández de Sevilla, M; Vidal, Marta; Jiménez, Alfons; Pons Tomas, Gemma; Jairoce, Chenjerai; Melé Casas, María; Rubio, Rocío; Hernández García, María; Ruiz Olalla, Gemma; Girona Alarcón, Mònica; Barrios, Diana; Santano, Rebeca; Mitchell, Robert A.; Puyol, Laura; Mayer, Leonie; Chi, Jordi; Rodrigo Melero, Natalia; Carolis, Carlo; Garcia Miquel, Aleix; Bonet Carné, Elisenda; Claverol, Joana; Cubells, Marta; Fortuny Guasch, Claudia; Fumadó, Victoria; Jou, Cristina; Muñoz Almagro, Carmen; Izquierdo, Luis; Bassat Orellana, Quique; Gratacós Solsona, Eduard; Aguilar, Ruth; García García, Juan José; Moncunill, Gemma; Jordan Garcia, Iolanda
13-Aug-2019Clinical 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 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
17-Nov-2022Low transmission of SARS-CoV-2 derived from children in family clusters: An observational study of family households in the Barcelona Metropolitan Area, SpainMelé Casas, Maria; Launes Montaña, Cristian; Fernández de Sevilla Estrach, Mariona; Hernández García, María; Pons Tomàs, Gemma; Bassat Orellana, Quique; Fumadó, Victoria; Fortuny Guasch, Claudia; Garcia Miquel, Aleix; Bonet Carné, Elisenda; Prats, Clara; Ajanovic, Sara; Cubells, Marta; Claverol, Joana; Penela Sánchez, Daniel; Jou, Cristina; Arias, Sara; Balanza, Núria; Baro, Bàrbara; Millat-Martínez, Pere; Alonso Muñoz, Sergio; Álvarez Lacalle, Enrique; Català, Martí; Cuadras, Daniel; Muñoz-Almagro, Carmen; Gratacós Solsona, Eduard; Jordán García, Iolanda; García García, Juan José
1-Feb-2014Transcriptomic 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 myopathiesKalko, 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
11-Feb-2016GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunctionMontero Sánchez, Raquel; Yubero Siles, Dèlia; Villarroya i Terrade, Joan; Henares, Desiree; Jou, Cristina; Rodríguez, María Angeles; Ramos, Federico; Nascimento, Andrés; Ortez, Carlos Ignacio; Campistol Plana, Jaume; Pérez Dueñas, Belén; O'Callaghan, Mar; Pineda Marfà, Mercè; Garcia-Cazorla, Àngels; Oferil, Jaume Colomer; Montoya, Julio; Ruiz Pesini, Eduardo; Emperador, Sonia; Meznaric, Marija; Campderrós Traver, Laura; Kalko, Susana; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Jiménez Mallebrera, Cecilia
11-Oct-2013Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targetsPaco Mercader, Sonia; Kalko, Susana; Jou, Cristina; Rodríguez, María Angeles; Corbera, Joan; Muntoni, Francesco; Feng, Lucy; Rivas, Eloy; Torner Rubies, Ferran; Gualandi, Francesca; Gomez-Foix, Anna M.; Ferrer, Anna; Ortez, Carlos Ignacio; Nascimento, Andrés; Colomer Oferil, Jaume; Jiménez Mallebrera, Cecilia
30-Nov-2022Leigh syndrome is the main clinical characteristic of PTCD3 deficiencyMuñoz Pujol, Gerard; Ortigoza Escobar, Juan D.; Paredes Fuentes, Abraham J.; Jou, Cristina; Ugarteburu López, Olatz; Gort, Laura; Yubero, Delia; Garcia Cazorla, Angels; O'Callaghan, Mar; Campistol Plana, Jaume; Muchart, Jordi.; Yépez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch Iriberri, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic