Histopathology in HCM

por Tejado, Beatriz San Millán, Jou, Cristina
Publicado 2018

Pediatric intranasal lobular capillary hemangioma: Report of two new cases and review of the literature

por Mariño-Sánchez, Franklin, Lopez-Chacon, Mauricio, Jou, Cristina, Haag, Oliver
Publicado 2016

Correlation between muscular edema on magnetic resonance imaging versus major histocompatibility complex type Ii overexpression on muscle biopsy at diagnosis on juvenile dermatomyo...

por Iglesias, Estíbaliz, Clemente, Emilio Inarejos, Jou, Cristina, Torrente-Segarra, Vicenç, Riaza, Lucía, Bou, Rosa, Ribalta, Teresa, Antón, Jordi
Publicado 2014

Coenzyme Q(10) Treatment Monitoring in Different Human Biological Samples

por Paredes-Fuentes, Abraham J., Montero, Raquel, Codina, Anna, Jou, Cristina, Fernández, Guerau, Maynou, Joan, Santos-Ocaña, Carlos, Riera, Joan, Navas, Plácido, Drobnic, Franchek, Artuch, Rafael
Publicado 2020

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases

por Yubero, Dèlia, Natera-de Benito, Daniel, Pijuan, Jordi, Armstrong, Judith, Martorell, Loreto, Fernàndez, Guerau, Maynou, Joan, Jou, Cristina, Roldan, Mònica, Ortez, Carlos, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc
Publicado 2021

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 2015

Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy

por Codina, Anna, Roldán, Mònica, Natera-de Benito, Daniel, Ortez, Carlos, Planas, Robert, Matalonga, Leslie, Cuadras, Daniel, Carrera, Laura, Exposito, Jesica, Marquez, Jesus, Jimenez-Mallebrera, Cecilia, M. Porta, Josep, Nascimento, Andres, Jou, Cristina
Publicado 2023

Low levels of CIITA and high levels of SOCS1 predict COVID-19 disease severity in children and adults

por Girona-Alarcon, Mònica, Argüello, Guillermo, Esteve-Sole, Ana, Bobillo-Perez, Sara, Burgos-Artizzu, Xavier Paolo, Bonet-Carne, Elisenda, Mensa-Vilaró, Anna, Codina, Anna, Hernández-Garcia, María, Jou, Cristina, Alsina, Laia, Jordan, Iolanda
Publicado 2021

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants

por Natera‐de Benito, Daniel, Olival, Jonathan, Garcia‐Cabau, Carla, Jou, Cristina, Roldan, Mònica, Codina, Anna, Expósito‐Escudero, Jessica, Batlle, Cristina, Carrera‐García, Laura, Ortez, Carlos, Salvatella, Xavier, Palau, Francesc, Nascimento, Andrés, Hoenicka, Janet
Publicado 2023

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability

por Rodríguez, M. A., Del Rio Barquero, Luís M., Ortez, Carlos I., Jou, Cristina, Vigo, Meritxell, Medina, Julita, Febrer, Anna, Ramon-Krauel, Marta, Diaz-Manera, Jorge, Olive, Montse, González-Mera, Laura, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Publicado 2017

Contribution of Altered Endocannabinoid System to Overactive mTORC1 Signaling in Focal Cortical Dysplasia

por García-Rincón, Daniel, Díaz-Alonso, Javier, Paraíso-Luna, Juan, Ortega, Zaira, Aguareles, José, de Salas-Quiroga, Adán, Jou, Cristina, de Prada, Inmaculada, Martínez-Cerdeño, Verónica, Aronica, Eleonora, Guzmán, Manuel, Pérez-Jiménez, María Ángeles, Galve-Roperh, Ismael
Publicado 2019

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 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 2015

Susceptibility to Severe Acute Respiratory Syndrome Coronavirus 2 Infection Among Children and Adults: A Seroprevalence Study of Family Households in the Barcelona Metropolitan Reg...

por Brotons, Pedro, Launes, Cristian, Buetas, Elena, Fumado, Vicky, Henares, Desiree, de Sevilla, Mariona Fernandez, Redin, Alba, Fuente-Soro, Laura, Cuadras, Daniel, Mele, Maria, Jou, Cristina, Millat, Pere, Jordan, Iolanda, Garcia-Garcia, Juan Jose, Bassat, Quique, Muñoz-Almagro, Carmen
Publicado 2020

Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes

por Juan-Mateu, Jonàs, González-Quereda, Lidia, Rodríguez, Maria José, Verdura, Edgard, Lázaro, Kira, Jou, Cristina, Nascimento, Andrés, Jiménez-Mallebrera, Cecilia, Colomer, Jaume, Monges, Soledad, Lubieniecki, Fabiana, Foncuberta, Maria Eugenia, Pascual-Pascual, Samuel Ignacio, Molano, Jesús, Baiget, Montserrat, Gallano, Pia
Publicado 2013

Association between coenzyme Q(10) and glucose transporter (GLUT1) deficiency

por Yubero, Delia, O’Callaghan, Mar, Montero, Raquel, Ormazabal, Aida, Armstrong, Judith, Espinos, Carmina, Rodríguez, Maria A, Jou, Cristina, Castejon, Esperanza, Aracil, Maria A, Cascajo, Maria V, Gavilan, Angela, Briones, Paz, Jimenez-Mallebrera, Cecilia, Pineda, Mercedes, Navas, Plácido, Artuch, Rafael
Publicado 2014

Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

por Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernández-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jiménez-Mallebrera, Cecilia, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert, Taylor, Robert W.
Publicado 2015

Corrigendum: Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

por Brito, Sara, Thompson, Kyle, Campistol, Jaume, Colomer, Jaime, Hardy, Steven A., He, Langping, Fernández-Marmiesse, Ana, Palacios, Lourdes, Jou, Cristina, Jiménez-Mallebrera, Cecilia, Armstrong, Judith, Montero, Raquel, Artuch, Rafael, Tischner, Christin, Wenz, Tina, McFarland, Robert, Taylor, Robert W.
Publicado 2015

Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

por Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Benito, Daniel Natera-de, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Publicado 2019

Publisher Correction: Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein

por Milev, Miroslav P., Stanga, Daniela, Schänzer, Anne, Nascimento, Andrés, Saint-Dic, Djenann, Ortez, Carlos, Natera-de Benito, Daniel, Barrios, Desiré González, Colomer, Jaume, Badosa, Carmen, Jou, Cristina, Gallano, Pia, Gonzalez-Quereda, Lidia, Töpf, Ana, Johnson, Katherine, Straub, Volker, Hahn, Andreas, Sacher, Michael, Jimenez-Mallebrera, Cecilia
Publicado 2020