The importance of verifying the novelty of a finding and the value of combining results by Cecilia Jiménez‐Mallebrera

Get full text

Proteomic and functional characterisation of extracellular vesicles from collagen VI deficient human fibroblasts reveals a role in cell motility by Carmen Badosa, Mónica Roldán, Joaquín Fernández-Irigoyen, Enrique Santamaria, Cecilia Jimenez-Mallebrera

Get full text

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy by Selena Trifunov, Daniel Natera-de Benito, Jesica Maria Exposito Escudero, Carlos Ortez, Julita Medina, Daniel Cuadras, Carmen Badosa, Laura Carrera, Andres Nascimento, Andres Nascimento, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera

Get full text

Personalized in vitro Extracellular Matrix Models of Collagen VI-Related Muscular Dystrophies by Enrico Almici, Enrico Almici, Enrico Almici, Vanessa Chiappini, Vanessa Chiappini, Vanessa Chiappini, Arístides López-Márquez, Arístides López-Márquez, Carmen Badosa, Carmen Badosa, Blanca Blázquez, Blanca Blázquez, David Caballero, David Caballero, David Caballero, Joan Montero, Daniel Natera-de Benito, Daniel Natera-de Benito, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Mònica Roldán, Anna Lagunas, Anna Lagunas, Cecilia Jiménez-Mallebrera, Cecilia Jiménez-Mallebrera, Cecilia Jiménez-Mallebrera, Cecilia Jiménez-Mallebrera, Josep Samitier, Josep Samitier, Josep Samitier

Get full text

The Capillary Morphogenesis Gene 2 Triggers the Intracellular Hallmarks of Collagen VI-Related Muscular Dystrophy by Enrico Castroflorio, Ana Joaquina Pérez Berná, Arístides López-Márquez, Carmen Badosa, Pablo Loza-Alvarez, Mónica Roldán, Cecilia Jiménez-Mallebrera

Get full text

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability by M. A. Rodríguez, Luís M. Del Rio Barquero, Luís M. Del Rio Barquero, Carlos I. Ortez, Cristina Jou, Cristina Jou, Meritxell Vigo, Julita Medina, Anna Febrer, Marta Ramon-Krauel, Jorge Diaz-Manera, Montse Olive, Laura González-Mera, Laura González-Mera, Andres Nascimento, Andres Nascimento, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera

Get full text

PGC-1α induces mitochondrial and myokine transcriptional programs and lipid droplet and glycogen accumulation in cultured human skeletal muscle cells. by Emma Mormeneo, Cecilia Jimenez-Mallebrera, Xavier Palomer, Valeria De Nigris, Manuel Vázquez-Carrera, Anna Orozco, Andrés Nascimento, Jaume Colomer, Carles Lerín, Anna M Gómez-Foix

Get full text

Recurrent rhabdomyolysis and exercise intolerance: A new phenotype of late-onset thymidine kinase 2 deficiency by Carlos Pablo de Fuenmayor-Fernández de la Hoz, Germán Morís, Cecilia Jiménez-Mallebrera, Carmen Badosa, Aurelio Hernández-Laín, Alberto Blázquez Encinar, Miguel Ángel Martín, Cristina Domínguez-González

Get full text

Oxidative Phosphorylation Dysfunction Modifies the Cell Secretome by Nuria Garrido-Pérez, Ana Vela-Sebastián, Ester López-Gallardo, Sonia Emperador, Eldris Iglesias, Patricia Meade, Cecilia Jiménez-Mallebrera, Julio Montoya, M. Pilar Bayona-Bafaluy, Eduardo Ruiz-Pesini

Get full text

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators. by Sonia Paco, Teresa Casserras, Maria Angels Rodríguez, Cristina Jou, Montserrat Puigdelloses, Carlos I Ortez, Jordi Diaz-Manera, Eduardo Gallardo, Jaume Colomer, Andrés Nascimento, Susana G Kalko, Cecilia Jimenez-Mallebrera

Get full text

Innovative Computerized Dystrophin Quantification Method Based on Spectral Confocal Microscopy by Anna Codina, Mònica Roldán, Daniel Natera-de Benito, Carlos Ortez, Robert Planas, Leslie Matalonga, Daniel Cuadras, Laura Carrera, Jesica Exposito, Jesus Marquez, Cecilia Jimenez-Mallebrera, Josep M. Porta, Andres Nascimento, Cristina Jou

Get full text

CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant <i>COL6A1</i> Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts by Arístides López-Márquez, Matías Morín, Sergio Fernández-Peñalver, Carmen Badosa, Alejandro Hernández-Delgado, Daniel Natera-de Benito, Carlos Ortez, Andrés Nascimento, Daniel Grinberg, Susanna Balcells, Mónica Roldán, Miguel Ángel Moreno-Pelayo, Cecilia Jiménez-Mallebrera

Get full text

Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targets. by Sonia Paco, Susana G Kalko, Cristina Jou, María A Rodríguez, Joan Corbera, Francesco Muntoni, Lucy Feng, Eloy Rivas, Ferran Torner, Francesca Gualandi, Anna M Gomez-Foix, Anna Ferrer, Carlos Ortez, Andrés Nascimento, Jaume Colomer, Cecilia Jimenez-Mallebrera

Get full text

Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes. by Jonàs Juan-Mateu, Lidia González-Quereda, Maria José Rodríguez, Edgard Verdura, Kira Lázaro, Cristina Jou, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Jaume Colomer, Soledad Monges, Fabiana Lubieniecki, Maria Eugenia Foncuberta, Samuel Ignacio Pascual-Pascual, Jesús Molano, Montserrat Baiget, Pia Gallano

Get full text

Pathological Features in Paediatric Patients with TK2 Deficiency by Cristina Jou, Andres Nascimento, Anna Codina, Julio Montoya, Ester López-Gallardo, Sonia Emperador, Eduardo Ruiz-Pesini, Raquel Montero, Daniel Natera-de Benito, Carlos I. Ortez, Jesus Marquez, Maria V. Zelaya, Alfonso Gutierrez-Mata, Carmen Badosa, Laura Carrera-García, Jesica Expósito-Escudero, Monica Roldán, Yolanda Camara, Ramon Marti, Isidre Ferrer, Cecilia Jimenez-Mallebrera, Rafael Artuch

Get full text

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction. by Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera

Get full text

Late-onset thymidine kinase 2 deficiency: a review of 18 cases by Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

Get full text

OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect by Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor

Get full text