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

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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

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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

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Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy by Esther Fernández-Simón, Patricia Piñol-Jurado, Rasya Gokul-Nath, Adrienne Unsworth, Jorge Alonso-Pérez, Marianela Schiava, Andres Nascimento, Andres Nascimento, Giorgio Tasca, Rachel Queen, Dan Cox, Xavier Suarez-Calvet, Xavier Suarez-Calvet, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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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

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Long-term efficacy, safety, and patient-reported outcomes of apitegromab in patients with spinal muscular atrophy: results from the 36-month TOPAZ study by Thomas O. Crawford, John W. Day, Darryl C. De Vivo, Jena M. Krueger, Eugenio Mercuri, Eugenio Mercuri, Andres Nascimento, Amy Pasternak, Elena Stacy Mazzone, Tina Duong, Guochen Song, Jing L. Marantz, Scott Baver, Dongzi Yu, Lan Liu, Basil T. Darras

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Epilepsy in Duchenne and Becker muscular dystrophies by Jesus Alfonso Armijo Gómez, Miguel A. Fernandez‐Garcia, Ana Camacho, Marlin Liz, Carlos Ortez, Miguel Lafuente‐Hidalgo, Laura Toledo Bravo‐de Laguna, Berta Estévez‐Arias, Laura Carrera‐García, Jessica Expósito‐Escudero, Jana Domínguez‐Carral, Andres Nascimento, Daniel Natera‐de Benito

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Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome by Adela Della Marina, Andrie Koutsoulidou, Daniel Natera-de Benito, Lars-Oliver Tykocinski, Marios Tomazou, Kristia Georgiou, Andreas Laner, Heike Kölbel, Andres Nascimento, Carlos Ortez, Angela Abicht, Basant Kumar Thakur, Hanns Lochmüller, Leonidas A. Phylactou, Tobias Ruck, Ulrike Schara-Schmidt, Dipali Kale, Andreas Hentschel, Andreas Roos

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SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1 by Xinyu Cao, Madryn Lake, Gerd Van der Hoeven, Zander Claes, Javier del Pino García, Sarah Lemaire, Elora C. Greiner, Spyridoula Karamanou, Aleyde Van Eynde, Arminja N. Kettenbach, Daniel Natera de Benito, Laura Carrera García, Cristina Hernando Davalillo, Carlos Ortez, Andrés Nascimento, Roser Urreizti, Mathieu Bollen

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Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies by Alicia Alonso-Jiménez, Alicia Alonso-Jiménez, Esther Fernández-Simón, Esther Fernández-Simón, Esther Fernández-Simón, Daniel Natera-de Benito, Carlos Ortez, Carme García, Elena Montiel, Izaskun Belmonte, Irene Pedrosa, Sonia Segovia, Sonia Segovia, Patricia Piñol-Jurado, Patricia Piñol-Jurado, Patricia Piñol-Jurado, Ana Carrasco-Rozas, Ana Carrasco-Rozas, Xavier Suárez-Calvet, Xavier Suárez-Calvet, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera, Cecilia Jimenez-Mallebrera, Andrés Nascimento, Andrés Nascimento, Jaume Llauger, Claudia Nuñez-Peralta, Paula Montesinos, Jorge Alonso-Pérez, Jorge Alonso-Pérez, Eduard Gallardo, Eduard Gallardo, Isabel Illa, Isabel Illa, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera

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