Browsing by Author Jiménez Mallebrera, Cecilia
Showing results 1 to 10 of 10
Issue Date | Title | Author(s) |
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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 |
8-Aug-2017 | Differences In Adipose Tissue And Lean Mass Distribution In Patients With Collagen Vi Related Myopathies Are Associated With Disease Severity And Physical Ability | Rodríguez, 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 |
11-Feb-2016 | GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction | Montero 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-2013 | Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets | Paco 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 |
22-Jun-2020 | Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy | Domínguez González, Cristina; Badosa, Carmen; Madruga Garrido, Marcos; Martí, Itxaso; Paradas, Carmen; Ortez, Carlos Ignacio; Díaz Manera, Jordi; Berardo, Andrés; Alonso Pérez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana G.; Blázquez Bermejo, Cora; Cámara Navarro, Yolanda; Martí, Ramon; Mavillard, Fabiola; Martín, Miguel A.; Montoya, Julio; Ruíz Pesini, Eduardo; Villarroya i Terrade, Joan; Montero Sánchez, Raquel; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez Mallebrera, Cecilia |
23-Mar-2015 | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations | Brito, 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-Oct-2016 | Papel del colágeno VI en la homeostasis del músculo esquelético y tejido adiposo: implicaciones en la patofisiología de las distrofias musculares | Rodríguez García, Mª Ángeles |
12-Jan-2012 | PGC-1α induces mitochondrial and myokine transcriptional programs and lipid droplet and glycogen accumulation in cultured human skeletal muscle cells | Mormeneo, Emma; Jiménez Mallebrera, Cecilia; Palomer Tarridas, Francesc Xavier; De Nigris, Valeria; Vázquez Carrera, Manuel; Orozco, Anna; Nascimento, Andrés; Colomer Oferil, Jaume; Lerín Martínez, Carlos; Gómez Foix, Anna Maria |
23-Oct-2012 | Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy | Juan 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 |
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 |