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Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B
Hogarth, Marshall W., Defour, Aurelia, Lazarski, Christopher, Gallardo, Eduard, Diaz Manera, Jordi, Partridge, Terence A., Nagaraju, Kanneboyina, Jaiswal, Jyoti K.
Published in Nature communications (03.06.2019)
Published in Nature communications (03.06.2019)
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Journal Article
POPDC3 Gene Variants Associate with a New Form of Limb Girdle Muscular Dystrophy
Vissing, John, Johnson, Katherine, Töpf, Ana, Nafissi, Shahriar, Díaz‐Manera, Jordi, French, Vanessa M., Schindler, Roland F., Sarathchandra, Padmini, Løkken, Nicoline, Rinné, Susanne, Freund, Max, Decher, Niels, Müller, Thomas, Duno, Morten, Krag, Thomas, Brand, Thomas, Straub, Volker
Published in Annals of neurology (01.12.2019)
Published in Annals of neurology (01.12.2019)
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Journal Article
Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation
Frasquet, Marina, Rojas‐García, Ricard, Argente‐Escrig, Herminia, Vázquez‐Costa, Juan Francisco, Muelas, Nuria, Vílchez, Juan Jesús, Sivera, Rafael, Millet, Elvira, Barreiro, Marisa, Díaz‐Manera, Jordi, Turon‐Sans, Janina, Cortés‐Vicente, Elena, Querol, Luis, Ramírez‐Jiménez, Laura, Martínez‐Rubio, Dolores, Sánchez‐Monteagudo, Ana, Espinós, Carmen, Sevilla, Teresa, Lupo, Vincenzo
Published in European journal of neurology (01.04.2021)
Published in European journal of neurology (01.04.2021)
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Journal Article
Prevalence of sarcopenia after remission of hypercortisolism and its impact on HRQoL
Martel‐Duguech, Luciana, Alonso‐Jimenez, Alicia, Bascuñana, Helena, Díaz‐Manera, Jordi, Llauger, Jaume, Nuñez‐Peralta, Claudia, Montesinos, Paula, Webb, Susan M., Valassi, Elena
Published in Clinical endocrinology (Oxford) (01.11.2021)
Published in Clinical endocrinology (Oxford) (01.11.2021)
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Journal Article
Antibodies to contactin-1 in chronic inflammatory demyelinating polyneuropathy
Querol, Luis, Nogales-Gadea, Gisela, Rojas-Garcia, Ricard, Martinez-Hernandez, Eugenia, Diaz-Manera, Jordi, Suárez-Calvet, Xavier, Navas, Miquel, Araque, Josefa, Gallardo, Eduard, Isabel Illa
Published in Annals of neurology (01.03.2013)
Published in Annals of neurology (01.03.2013)
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Journal Article
Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis
Suárez-Calvet, Xavier, Gallardo, Eduard, Nogales-Gadea, Gisela, Querol, Luis, Navas, Miquel, Díaz-Manera, Jordi, Rojas-Garcia, Ricard, Illa, Isabel
Published in The Journal of pathology (01.07.2014)
Published in The Journal of pathology (01.07.2014)
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Journal Article
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids
Schiava, Marianela, Lofra, Robert Muni, Bourke, John P., Díaz‐Manera, Jordi, James, Meredith K., Elseed, Maha A., Malinova, Monika, Michel‐Sodhi, Jassi, Moat, Dionne, Ghimenton, Elisabetta, Mccallum, Michelle, Díaz, Carla Florencia Bolaño, Mayhew, Anna, Wong, Karen, Richardson, Mark, Tasca, Giorgio, Eglon, Gail, Eagle, Michelle, Turner, Cathy, Heslop, Emma, Straub, Volker, Bettolo, Chiara Marini, Guglieri, Michela
Published in European journal of neurology (01.06.2024)
Published in European journal of neurology (01.06.2024)
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Journal Article
Muscle magnetic resonance imaging in myotonic dystrophy type 1 (DM1): Refining muscle involvement and implications for clinical trials
Garibaldi, Matteo, Nicoletti, Tommaso, Bucci, Elisabetta, Fionda, Laura, Leonardi, Luca, Morino, Stefania, Tufano, Laura, Alfieri, Girolamo, Lauletta, Antonio, Merlonghi, Gioia, Perna, Alessia, Rossi, Salvatore, Ricci, Enzo, Alonso Perez, Jorge, Tartaglione, Tommaso, Petrucci, Antonio, Pennisi, Elena Maria, Salvetti, Marco, Cutter, Gary, Díaz‐Manera, Jordi, Silvestri, Gabriella, Antonini, Giovanni
Published in European journal of neurology (01.03.2022)
Published in European journal of neurology (01.03.2022)
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Journal Article
STIG study: real-world data of long-term outcomes of adults with Pompe disease under enzyme replacement therapy with alglucosidase alfa
Gutschmidt, Kristina, Musumeci, Olimpia, Díaz-Manera, Jordi, Chien, Yin-Hsiu, Knop, Karl Christian, Wenninger, Stephan, Montagnese, Federica, Pugliese, Alessia, Tavilla, Graziana, Alonso-Pérez, Jorge, Hwu, Paul Wuh-Liang, Toscano, Antonio, Schoser, Benedikt
Published in Journal of neurology (01.07.2021)
Published in Journal of neurology (01.07.2021)
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Journal Article
Randomized phase 2 study of ACE‐083, a muscle‐promoting agent, in facioscapulohumeral muscular dystrophy
Statland, Jeffrey M., Campbell, Craig, Desai, Urvi, Karam, Chafic, Díaz‐Manera, Jordi, Guptill, Jeffrey T., Korngut, Lawrence, Genge, Angela, Tawil, Rabi N., Elman, Lauren, Joyce, Nanette C., Wagner, Kathryn R., Manousakis, Georgios, Amato, Anthony A., Butterfield, Russell J., Shieh, Perry B., Wicklund, Matthew, Gamez, Josep, Bodkin, Cynthia, Pestronk, Alan, Weihl, Conrad C., Vilchez‐Padilla, Juan J., Johnson, Nicholas E., Mathews, Katherine D., Miller, Barry, Leneus, Ashley, Fowler, Marcie, Rijn, Marc, Attie, Kenneth M.
Published in Muscle & nerve (01.07.2022)
Published in Muscle & nerve (01.07.2022)
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Journal Article
Switching Enzyme Replacement Therapy for Late‐Onset Pompe Disease From Alglucosidase Alfa to Cipaglucosidase Alfa Plus Miglustat: Post Hoc Effect Size Analysis of PROPEL
Kushlaf, Hani, Díaz‐Manera, Jordi, Bratkovic, Drago, Byrne, Barry J., Claeys, Kristl G., Clemens, Paula R., Dimachkie, Mazen M., Kishnani, Priya S., Laforêt, Pascal, Roberts, Mark, Schoser, Benedikt, Toscano, Antonio, Castelli, Jeff, Holdbrook, Fred, Sitaraman Das, Sheela, Goldman, Mitchell, Mozaffar, Tahseen
Published in Muscle & nerve (01.08.2025)
Published in Muscle & nerve (01.08.2025)
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Journal Article
Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E
Li, Chengcheng, Wilborn, Jackson, Pittman, Sara, Daw, Jil, Alonso-Pérez, Jorge, Díaz-Manera, Jordi, Weihl, Conrad C., Haller, Gabe
Published in The Journal of clinical investigation (15.06.2023)
Published in The Journal of clinical investigation (15.06.2023)
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Journal Article
Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy
Pascual-Goñi, Elba, Martín-Aguilar, Lorena, Lleixà, Cinta, Martínez-Martínez, Laura, Simón-Talero, Manuel J., Díaz-Manera, Jordi, Cortés-Vicente, Elena, Rojas-García, Ricard, Moga, Esther, Juárez, Cándido, Illa, Isabel, Querol, Luis
Published in Scientific reports (16.04.2019)
Published in Scientific reports (16.04.2019)
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Journal Article
Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024
Schoser, Benedikt, Beek, Nadine A. M. E., Broomfield, Alexander, Brusse, Esther, Diaz‐Manera, Jordi, Hahn, Andreas, Hundsberger, Thomas, Kornblum, Cornelia, Kruijshaar, Michelle, Laforet, Pascal, Mengel, Eugen, Mongini, Tiziana, Orlikowski, David, Parenti, Giancarlo, Pijnappel, W. W. M. Pim, Roberts, Mark, Scherer, Thomas, Toscano, Antonio, Vissing, John, Hout, Johanna M. P., Doorn, Pieter A., Wenninger, Stephan, Ploeg, Ans T.
Published in European journal of neurology (01.09.2024)
Published in European journal of neurology (01.09.2024)
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Journal Article
Platelet-Derived Growth Factor BB Influences Muscle Regeneration in Duchenne Muscle Dystrophy
Piñol-Jurado, Patricia, Gallardo, Eduard, de Luna, Noemi, Suárez-Calvet, Xavier, Sánchez-Riera, Carles, Fernández-Simón, Esther, Gomis, Clara, Illa, Isabel, Díaz-Manera, Jordi
Published in The American journal of pathology (01.08.2017)
Published in The American journal of pathology (01.08.2017)
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Journal Article
Charcot–Marie–Tooth disease due to MORC2 mutations in Spain
Sivera, Rafael, Lupo, Vincenzo, Frasquet, Marina, Argente‐Escrig, Herminia, Alonso‐Pérez, Jorge, Díaz‐Manera, Jordi, Querol, Luis, Mar García‐Romero, María, Ignacio Pascual, Samuel, García‐Sobrino, Tania, Paradas, Carmen, Francisco Vázquez‐Costa, Juan, Muelas, Nuria, Millet, Elvira, Jesús Vílchez, Juan, Espinós, Carmen, Sevilla, Teresa
Published in European journal of neurology (01.09.2021)
Published in European journal of neurology (01.09.2021)
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Journal Article
RhoA/ROCK2 signalling is enhanced by PDGF‐AA in fibro‐adipogenic progenitor cells: implications for Duchenne muscular dystrophy
Fernández‐Simón, Esther, Suárez‐Calvet, Xavier, Carrasco‐Rozas, Ana, Piñol‐Jurado, Patricia, López‐Fernández, Susana, Pons, Gemma, Bech Serra, Joan Josep, Torre, Carolina, Luna, Noemí, Gallardo, Eduard, Díaz‐Manera, Jordi
Published in Journal of cachexia, sarcopenia and muscle (01.04.2022)
Published in Journal of cachexia, sarcopenia and muscle (01.04.2022)
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Journal Article
Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease
Boentert, Matthias, Berger, Kenneth I., Díaz-Manera, Jordi, Dimachkie, Mazen M., Hamed, Alaa, Riou França, Lionel, Thibault, Nathan, Shukla, Pragya, Ishak, Jack, Caro, J. Jaime
Published in Orphanet journal of rare diseases (12.01.2024)
Published in Orphanet journal of rare diseases (12.01.2024)
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Journal Article
Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles
Nuñez‐Peralta, Claudia, Alonso‐Pérez, Jorge, Llauger, Jaume, Segovia, Sonia, Montesinos, Paula, Belmonte, Izaskun, Pedrosa, Irene, Montiel, Elena, Alonso‐Jiménez, Alicia, Sánchez‐González, Javier, Martínez‐Noguera, Antonio, Illa, Isabel, Díaz‐Manera, Jordi
Published in Journal of cachexia, sarcopenia and muscle (01.08.2020)
Published in Journal of cachexia, sarcopenia and muscle (01.08.2020)
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Journal Article