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
Published 2020-04-01

Tick-borne encephalitis. Description of the first imported case in Spain in a paediatric patient

by Ana Carolina Izurieta-Pacheco, Laia Nou-Fontanet, Andrés Nascimento, Miguel J. Martínez, Eneritz Velasco-Arnaiz
Published 2022-01-01

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
Published 2022-01-01

Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

by Carmen Hernández-Ainsa, Andrés Nascimento, Cristina Jou, Rafael Artuch, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador
Published 2022-03-01

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
Published 2015-01-01

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
Published 2022-04-01

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
Published 2022-01-01

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
Published 2017-08-01

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
Published 2012-01-01

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins

by Patricia Martínez Olorón, Iosune Alegría, Sergi Cesar, Bernat del Olmo, Estefanía Martínez-Barrios, Laura Carrera-García, Daniel Natera-de Benito, Andrés Nascimento, Oscar Campuzano, Georgia Sarquella-Brugada
Published 2024-05-01

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
Published 2021-10-01

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
Published 2021-04-01

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
Published 2015-01-01

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
Published 2023-03-01

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
Published 2023-03-01

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
Published 2022-04-01

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
Published 2023-03-01

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
Published 2022-01-01

<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
Published 2021-05-01

Correction: 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
Published 2015-01-01