Hypotonic male infant and MCT8 deficiency - a diagnosis to think about

Por Rodrigues, Filipa, Grenha, Joana, Ortez, Carlos, Nascimento, Andrés, Morte, Beatriz, M-Belinchón, Monica, Armstrong, Judith, Colomer, Jaume
Publicado no BMC Pediatr (2014)

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations

Por Juan-Mateu, Jonas, Gonzalez-Quereda, Lidia, Rodriguez, Maria Jose, Baena, Manel, Verdura, Edgard, Nascimento, Andres, Ortez, Carlos, Baiget, Montserrat, Gallano, Pia
Publicado no PLoS One (2015)

Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome

Por Duarte, Sofia Temudo, Armstrong, Judith, Roche, Ana, Ortez, Carlos, Pérez, Ana, O’Callaghan, Maria del Mar, Pereira, Antonina, Sanmartí, Francesc, Ormazábal, Aida, Artuch, Rafael, Pineda, Mercedes, García-Cazorla, Angels
Publicado em 2013

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators

Por Paco, Sonia, Casserras, Teresa, Rodríguez, Maria Angels, Jou, Cristina, Puigdelloses, Montserrat, Ortez, Carlos I., Diaz-Manera, Jordi, Gallardo, Eduardo, Colomer, Jaume, Nascimento, Andrés, Kalko, Susana G., Jimenez-Mallebrera, Cecilia
Publicado no PLoS One (2015)

Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

Por Paco, Sonia, Kalko, Susana G., Jou, Cristina, Rodríguez, María A., Corbera, Joan, Muntoni, Francesco, Feng, Lucy, Rivas, Eloy, Torner, Ferran, Gualandi, Francesca, Gomez-Foix, Anna M., Ferrer, Anna, Ortez, Carlos, Nascimento, Andrés, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Publicado em 2013

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

Por Paco, Sonia, Kalko, Susana G., Jou, Cristina, Rodríguez, María A., Corbera, Joan, Muntoni, Francesco, Feng, Lucy, Rivas, Eloy, Torner, Ferran, Gualandi, Francesca, Gomez-Foix, Anna M., Ferrer, Anna, Ortez, Carlos, Nascimento, Andrés, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Publicado no PLoS One (2015)

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 no...

Por Kalko, Susana Graciela, Paco, Sonia, Jou, Cristina, Rodríguez, Maria Angels, Meznaric, Marija, Rogac, Mihael, Jekovec-Vrhovsek, Maja, Sciacco, Monica, Moggio, Maurizio, Fagiolari, Gigliola, De Paepe, Boel, De Meirleir, Linda, Ferrer, Isidre, Roig-Quilis, Manel, Munell, Francina, Montoya, Julio, López-Gallardo, Ester, Ruiz-Pesini, Eduardo, Artuch, Rafael, Montero, Raquel, Torner, Ferran, Nascimento, Andres, Ortez, Carlos, Colomer, Jaume, Jimenez-Mallebrera, Cecilia
Publicado em 2014

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

Por Montero, Raquel, Yubero, Delia, Villarroya, Joan, Henares, Desiree, Jou, Cristina, Rodríguez, Maria Angeles, Ramos, Federico, Nascimento, Andrés, Ortez, Carlos Ignacio, Campistol, Jaume, Perez-Dueñas, Belen, O'Callaghan, Mar, Pineda, Mercedes, Garcia-Cazorla, Angeles, Oferil, Jaume Colomer, Montoya, Julio, Ruiz-Pesini, Eduardo, Emperador, Sonia, Meznaric, Marija, Campderros, Laura, Kalko, Susana G., Villarroya, Francesc, Artuch, Rafael, Jimenez-Mallebrera, Cecilia
Publicado no PLoS One (2016)