Browsing by Subject Muscular dystrophy

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Issue DateTitleAuthor(s)
26-Apr-2021Bioengineered in vitro 3D model of myotonic dystrophy type 1 human skeletal muscleFernández Garibay, Xiomara; Ortega, María Alejandra; Cerro Herreros, Estefanía; Comelles Pujadas, Jordi; Martínez Fraiz, Elena; Artero, Rubén; Fernández Costa, Juan M.; Ramón Azcón, Javier
10-Feb-2021Bioengineered in vitro skeletal muscles as new tools for muscular dystrophies preclinical studiesFernández Costa, Juan M.; Fernández Garibay, Xiomara; Velasco Mallorquí, Ferran; Ramón Azcón, Javier
23-Dec-2025Caracterización clínica y genética de las distrofias musculares: en busca de nuevos fenotiposOsorio, Andrés Eduardo Nascimento
7-Aug-2015Combination of exercise training and erythropoietin prevents cancer-induced alterations.Pin, Fabrizio; Busquets Rius, Sílvia; Toledo Soler, Miriam; Camperi, Andrea; López-Soriano, Francisco J.; Costelli, Paola; Argilés Huguet, Josep Ma.; Penna, Fabio
16-Apr-2022CRISPR/Cas9-mediated allele-specific disruption of a dominant COL6A1 pathogenic variant improves collagen VI network in patient fibroblastsLópez Márquez, Arístides; Morín, Matías; Fernández-Peñalver, Sergio; Badosa, Carmen; Hernández-Delgado, Alejandro; Natera-de Benito, Daniel; Ortez, Carlos; Nascimento, Andrés; Grinberg Vaisman, Daniel Raúl; Balcells Comas, Susana; Roldán Molina, Mònica; Moreno-Pelayo, Miguel Ángel; Jiménez-Mallebrera, Cecilia
16-Dec-2024Deciphering the importance of heterogeneity in Myotonic Dystrophy type 1Núñez Manchón, Judit
26-Nov-2021Engineered functional skeletal muscle tissues for in vitro studiesFernández Garibay, Xiomara
1-Mar-2019Expanding the importance of HMERF titinopathy: new mutations and clinical aspectsPalmio, Johanna; Leonard-Louis, Sarah; Sacconi, Sabrina; Savarese, Marco; Penttilä, Sini; Semmler, Anna‑Lena; Kress, Wolfram; Mozaffar, Tahseen; Lai, Tim; Stojkovic, Tanya; Berardo, Andrés; Reisin, Ricardo; Attarian, Shahram; Urtizberea, Andoni; Cobo, Ana Maria; Maggi, Lorenzo; Kurbatov, Sergei; Nikitin, Sergei; Milisenda, José; Fatehi, Farzad; Raimondi, Monika; Silveira, Fernando; Hackman, Peter; Claeys, Kristl G.; Udd, Bjarne
1-Jan-2013Filamin C-related myopathies: pathology and mechanismsFurst, Dieter O.; Goldfarb, Lev G.; Kley, Rudolf A.; Vorgerd, Matthias; Olivé i Plana, Montserrat; Ven, Peter F. M. van der
11-Oct-2013Gene expression profiling identifies molecular pathways associated with collagen VI deficiency and provides novel therapeutic targetsPaco Mercader, Sonia; Kalko, Susana; Jou, Cristina; Rodríguez, María Angeles; Corbera, Joan; Muntoni, Francesco; Feng, Lucy; Rivas, Eloy; Torner Rubies, Ferran; Gualandi, Francesca; Gomez-Foix, Anna M.; Ferrer, Anna; Ortez, Carlos Ignacio; Nascimento, Andrés; Colomer Oferil, Jaume; Jiménez Mallebrera, Cecilia
29-Nov-2024Identificación de predictores de arritmias cardíacas y muerte súbita en pacientes pediátricos afectos de enfermedades neuromuscularesCésar Diaz, Sergio
10-Oct-2022Investigating pathological extracellular matrix architectureAlmici, Enrico
27-Sep-2023Mimicking sarcolemmal damage in vitro: a contractile 3D model of skeletal muscle for drug testing in Duchenne muscular dystrophyTejedera Villafranca, Ainoa; Montolio, Marisol; Ramon Azcon, Javier; Fernandez Costa, Juan M.
1-Dec-2018Muscle imaging in laminopathies: Synthesis study identifies meaningful muscles for follow-upGómez Andrés, David; Díaz Manera, Jordi; Alejaldre, Aida; Pulido Valdeolivas, Irene; González Mera, Laura; Olivé i Plana, Montserrat; Vilchez, Juan José; López de Munain, Adolfo; Paradas, Carmen; Muelas, Nuria; Sánchez Montáñez, Ángel; Alonso Jimenez, Alicia; Gómez de la Banda, Marta; Dabaj, Ivana; Bonne, Gisèle; Munell Casadesús, Francina; Carlier, Robert Y.; Quijano Roy, Susana
29-Jan-2015Myogenic Precursors from iPS Cells for Skeletal Muscle Cell Replacement Therapy.Roca, Isart; Requena Osete, Jordi; Edel, Michael John; Alvarez Palomo, Ana Belen
18-Dec-2020Myotonic Dystrophy Type 1: the heterogeneity of a complex disease in a global research approachBallester López, Alfonsina
12-Mar-2025Nanomechanics of cell-derived matrices as a functional read-out in collagen VI-related congenital muscular dystrophiesWhite, Tom; López Márquez, Arístides; Badosa, Carmen; Jimenez Mallebrera, Cecilia; Samitier i Martí, Josep; Giannotti, Marina Inés; Lagunas, Anna
18-Oct-2018Noves aproximacions terapèutiques en la Distrofia Muscular de Duchenne i validació d'estratègies diagnòstiques en les malalties neuromusculars pediàtriquesFerrer Aparicio, Silvia
4-Nov-2022Nutritional management of Myotonic Dystrophy type 1Pascual Gilabert, Marta
31-Jan-2025Outcome measures in muscular dystrophy rehabilitation: an ICF content comparison approach to the most commonly used MD scalesTaranu, Mihaela; Sebio García, Raquel; Milisenda, José; Alejaldre, Aida; Pastor Durán, Xavier; Laxe, Sarah