The importance of verifying the novelty of a finding and the value of combining results

por Jiménez‐Mallebrera, Cecilia
Publicado 2022

Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility

por Badosa, Carmen, Roldán, Mónica, Fernández-Irigoyen, Joaquín, Santamaria, Enrique, Jimenez-Mallebrera, Cecilia
Publicado 2023

Considerations in the Preclinical Assessment of the Safety of Antisense Oligonucleotides

por Goyenvalle, Aurélie, Jimenez-Mallebrera, Cecilia, van Roon, Willeke, Sewing, Sabine, Krieg, Arthur M., Arechavala-Gomeza, Virginia, Andersson, Patrik
Publicado 2023

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy

por Castroflorio, Enrico, Pérez Berná, Ana Joaquina, López-Márquez, Arístides, Badosa, Carmen, Loza-Alvarez, Pablo, Roldán, Mónica, Jiménez-Mallebrera, Cecilia
Publicado 2022

PGC-1α Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells

por Mormeneo, Emma, Jimenez-Mallebrera, Cecilia, Palomer, Xavier, De Nigris, Valeria, Vázquez-Carrera, Manuel, Orozco, Anna, Nascimento, Andrés, Colomer, Jaume, Lerín, Carles, Gómez-Foix, Anna M.
Publicado 2012

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy

por Trifunov, Selena, Natera-de Benito, Daniel, Exposito Escudero, Jesica Maria, Ortez, Carlos, Medina, Julita, Cuadras, Daniel, Badosa, Carmen, Carrera, Laura, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Publicado 2020

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome

por Garrido-Pérez, Nuria, Vela-Sebastián, Ana, López-Gallardo, Ester, Emperador, Sonia, Iglesias, Eldris, Meade, Patricia, Jiménez-Mallebrera, Cecilia, Montoya, Julio, Bayona-Bafaluy, M. Pilar, Ruiz-Pesini, Eduardo
Publicado 2020

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency

por de Fuenmayor-Fernández de la Hoz, Carlos Pablo, Morís, Germán, Jiménez-Mallebrera, Cecilia, Badosa, Carmen, Hernández-Laín, Aurelio, Blázquez Encinar, Alberto, Martín, Miguel Ángel, Domínguez-González, Cristina
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

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies

por Almici, Enrico, Chiappini, Vanessa, López-Márquez, Arístides, Badosa, Carmen, Blázquez, Blanca, Caballero, David, Montero, Joan, Natera-de Benito, Daniel, Nascimento, Andrés, Roldán, Mònica, Lagunas, Anna, Jiménez-Mallebrera, Cecilia, Samitier, Josep
Publicado 2022

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

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

por López-Márquez, Arístides, Morín, Matías, Fernández-Peñalver, Sergio, Badosa, Carmen, Hernández-Delgado, Alejandro, Natera-de Benito, Daniel, Ortez, Carlos, Nascimento, Andrés, Grinberg, Daniel, Balcells, Susanna, Roldán, Mónica, Moreno-Pelayo, Miguel Ángel, Jiménez-Mallebrera, Cecilia
Publicado 2022

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

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

por Trifunov, Selena, Natera-de Benito, Daniel, Carrera-García, Laura, Codina, Anna, Expósito-Escudero, Jesica, Ortez, Carlos, Medina, Julita, Torres Alcala, Soraya, Bernal, Sara, Alias, Laura, Badosa, Carmen, Balsells, Sol, Alcolea, Daniel, Nascimento, Andres, Jimenez-Mallebrera, Cecilia
Publicado 2023

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

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