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

Encefalitis centroeuropea. Descripción del primer caso importado en España en un paciente pediátrico by Ana Carolina Izurieta-Pacheco, Laia Nou-Fontanet, Andrés Nascimento, Miguel J. Martínez, Eneritz Velasco-Arnaiz

Get full text

DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. by Jonas Juan-Mateu, Lidia Gonzalez-Quereda, Maria Jose Rodriguez, Manel Baena, Edgard Verdura, Andres Nascimento, Carlos Ortez, Montserrat Baiget, Pia Gallano

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

Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases by Jordi Pijuan, Jordi Pijuan, Lara Cantarero, Lara Cantarero, Daniel Natera-de Benito, Arola Altimir, Anna Altisent-Huguet, Yaiza Díaz-Osorio, Laura Carrera-García, Jessica Expósito-Escudero, Carlos Ortez, Carlos Ortez, Andrés Nascimento, Andrés Nascimento, Janet Hoenicka, Janet Hoenicka, Francesc Palau, Francesc Palau, Francesc Palau, Francesc Palau, Francesc Palau

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

The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases by Dèlia Yubero, Daniel Natera-de Benito, Jordi Pijuan, Judith Armstrong, Loreto Martorell, Guerau Fernàndez, Joan Maynou, Cristina Jou, Mònica Roldan, Carlos Ortez, Andrés Nascimento, Janet Hoenicka, Francesc Palau

Get full text

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency by Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas

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

Common pathophysiology for ANXA11 disorders caused by aspartate 40 variants by Daniel Natera‐de Benito, Jonathan Olival, Carla Garcia‐Cabau, Cristina Jou, Mònica Roldan, Anna Codina, Jessica Expósito‐Escudero, Cristina Batlle, Laura Carrera‐García, Carlos Ortez, Xavier Salvatella, Francesc Palau, Andrés Nascimento, Janet Hoenicka

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

Characterization of cardiac involvement in children with LMNA-related muscular dystrophy by Sergi Cesar, Sergi Cesar, Sergi Cesar, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Victori Fiol, Victori Fiol, Victori Fiol, Isaac Moll, Isaac Moll, Isaac Moll, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Estefania Martínez-Barrios, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Carlos Ortez, Carlos Ortez, Laura Carrera, Laura Carrera, Jessica Expósito, Jessica Expósito, Rubén Berrueco, Carles Bautista-Rodriguez, Carles Bautista-Rodriguez, Ivana Dabaj, Marta Gómez García-de-la-Banda, Susana Quijano-Roy, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada

Get full text

Renal Phenotype in Mitochondrial Diseases: A Multicenter Study by Maria Parasyri, Per Brandström, Johanna Uusimaa, Elsebet Ostergaard, Omar Hikmat, Pirjo Isohanni, Karin Naess, I.F.M. de Coo, Andrés Nascimento Osorio, Matti Nuutinen, Christopher Lindberg, Laurence A. Bindoff, Már Tulinius, Niklas Darin, Kalliopi Sofou

Get full text

<i>CACNA1A</i> Mutations Causing Early Onset Ataxia: Profiling Clinical, Dysmorphic and Structural-Functional Findings by Antonio F. Martínez-Monseny, Albert Edo, Dídac Casas-Alba, Mercè Izquierdo-Serra, Mercè Bolasell, David Conejo, Loreto Martorell, Jordi Muchart, Laura Carrera, Carlos I. Ortez, Andrés Nascimento, Baldo Oliva, José M. Fernández-Fernández, Mercedes Serrano

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

LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation by Sergi Cesar, Sergi Cesar, Sergi Cesar, Monica Coll, Monica Coll, Victoria Fiol, Victoria Fiol, Victoria Fiol, Anna Fernandez-Falgueras, Anna Fernandez-Falgueras, Jose Cruzalegui, Jose Cruzalegui, Jose Cruzalegui, Anna Iglesias, Anna Iglesias, Isaac Moll, Isaac Moll, Isaac Moll, Alexandra Perez-Serra, Alexandra Perez-Serra, Estefanía Martínez-Barrios, Estefanía Martínez-Barrios, Estefanía Martínez-Barrios, Carles Ferrer-Costa, Carles Ferrer-Costa, Bernat del Olmo, Bernat del Olmo, Marta Puigmulè, Marta Puigmulè, Marta Puigmulè, Mireia Alcalde, Mireia Alcalde, Laura Lopez, Laura Lopez, Ferran Pico, Ferran Pico, Rubén Berrueco, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Josep Brugada, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Irene Zschaeck, Daniel Natera-de Benito, Daniel Natera-de Benito, Laura Carrera-García, Laura Carrera-García, Jessica Exposito-Escudero, Jessica Exposito-Escudero, Carlos Ortez, Carlos Ortez, Andrés Nascimento, Andrés Nascimento, Andrés Nascimento, Ramon Brugada, Ramon Brugada, Ramon Brugada, Ramon Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Georgia Sarquella-Brugada, Oscar Campuzano, Oscar Campuzano, Oscar Campuzano

Get full text

An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epi... by Emma Koehorst, Renato Odria, Júlia Capó, Judit Núñez-Manchón, Andrea Arbex, Miriam Almendrote, Ian Linares-Pardo, Daniel Natera-de Benito, Verónica Saez, Andrés Nascimento, Carlos Ortez, Miguel Ángel Rubio, Jordi Díaz-Manera, Jorge Alonso-Pérez, Giuseppe Lucente, Agustín Rodriguez-Palmero, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea, Mònica Suelves

Get full text