Browsing by Author Jou, Cristina

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Showing results 1 to 15 of 15
Issue DateTitleAuthor(s)
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
18-Jan-2023Common pathophysiology for ANXA11 disorders caused by aspartate 40 variantsNatera de Benito, Damiel; Olival T., Jonathan F.; Garcia Cabau, Carla; Jou, Cristina; Roldan, Mònica; Codina, Anna; Expósito Escudero, Jessica; Batlle, Cristina; Carrera García, Laura; Ortez, Carlos Ignacio; Salvatella i Giralt, Xavier; Palau Martínez, Francesc; Nascimento, Andrés; Hoenicka, Janet
8-Aug-2017Differences In Adipose Tissue And Lean Mass Distribution In Patients With Collagen Vi Related Myopathies Are Associated With Disease Severity And Physical AbilityRodríguez, María Angeles; Barquero, Luís M. del Rio; Ortez, Carlos Ignacio; Jou, Cristina; Vigo, Meritxell; Medina, Julita; Febrer, Anna; Ramon-Krauel, Marta; Díaz Manera, Jordi; Olivé i Plana, Montserrat; González Mera, Laura; Nascimento, Andrés; Jiménez Mallebrera, Cecilia
2-Nov-2020Efficient muscle distribution reflects the positive influence of coenzyme Q10 Phytosome in healthy aging athletes after stressing exerciseDrobnic, F.; Riera Riera, Joan; Artuch Iriberri, Rafael; Jou, Cristina; Codina, Anna; Montero, Raquel; Paredes-Fuentes, Abraham J.; Domingo i Pedrol, Joan Carles; Banquells, Montserrat; Riva, Antonella; Allegrini, Pietro; Petrangolini, Giovanna; Togni, Stefano
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
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, Jaume; Muchart, Jordi.; Yépez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch Iriberri, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic
23-Mar-2015Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutationsBrito, Sara; Thompson, Kyle; Campistol Plana, Jaume; Colomer Oferil, Jaume; Hardy, Steven A.; Langping, He; Fernández Marmiesse, Ana; Palacios, Lourdes; Jou, Cristina; Jiménez Mallebrera, Cecilia; Armstrong i Morón, Judith; Montero Sánchez, Raquel; Artuch Iriberri, Rafael; Tischner, Christin; Wenz, Tina; McFarland, Robert; Taylor, Robert W.
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
20-Sep-2022Pathological Features in Paediatric Patients with TK2 DeficiencyJou, Cristina; Nascimento, Andres; Codina, Anna; Montoya, Julio; López-Gallardo, Ester; Emperador, Sonia; Ruiz-pesini, Eduardo; Montero, Raquel; Natera-de Benito, Daniel; Ortez, Carlos I.; Marquez, Jesus; Zelaya, Maria V.; Gutierrez-mata, Alfonso; Badosa, Carmen; Carrera-García, Laura; Expósito-escudero, Jesica; Roldán, Monica; Camara, Yolanda; Marti, Ramon; Ferrer, Isidre; Jimenez-mallebrera, Cecilia; Artuch Iriberri, Rafael
23-Oct-2012Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyJuan Mateu, Jonàs; Rodríguez, Maria José; Nascimento, Andrés; Jiménez Mallebrera, Cecilia; González Quereda, Lidia; Rivas, Eloy; Paradas, Carmen; Madruga, Marcos; Sánchez Ayaso, Pedro; Jou, Cristina; González Mera, Laura; Munell Casadesús, Francina; Roig Quilis, Manuel; Rabasa, Maria; Hernández Lain, Aurelio; Díaz Manera, Jordi; Gallardo, Eduard; Pascual Calvet, Jordi; Verdura, Edgard; Colomer Oferil, Jaume; Baiget Bastús, Montserrat; Olivé i Plana, Montserrat; Gallano, Pia
23-May-2023Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrityPlanas Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Bénédicte; Jou, Cristina; Juliá Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; Torre, Carolina de la; Gelot, Antoinette; Marsal, Maria; Loza Álvarez, Pablo; García Cazorla, Àngels; Fatemi, Ali; Ferrer, Isidro (Ferrer Abizanda); Portero Otin, Manuel; Area Gómez, Estela; Pujol Onofre, Aurora
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