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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Urban Seismology: on the origin of earth vibrations within a city
Díaz, Jordi, Ruiz, Mario, Sánchez-Pastor, Pilar S, Romero, Paula
Published in Scientific reports (10.11.2017)
Published in Scientific reports (10.11.2017)
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Global quieting of high-frequency seismic noise due to COVID-19 pandemic lockdown measures
Lecocq, Thomas, Hicks, Stephen P, Van Noten, Koen, van Wijk, Kasper, Koelemeijer, Paula, De Plaen, Raphael S M, Massin, Frédérick, Hillers, Gregor, Anthony, Robert E, Apoloner, Maria-Theresia, Arroyo-Solórzano, Mario, Assink, Jelle D, Büyükakpınar, Pinar, Cannata, Andrea, Cannavo, Flavio, Carrasco, Sebastian, Caudron, Corentin, Chaves, Esteban J, Cornwell, David G, Craig, David, den Ouden, Olivier F C, Diaz, Jordi, Donner, Stefanie, Evangelidis, Christos P, Evers, Läslo, Fauville, Benoit, Fernandez, Gonzalo A, Giannopoulos, Dimitrios, Gibbons, Steven J, Girona, Társilo, Grecu, Bogdan, Grunberg, Marc, Hetényi, György, Horleston, Anna, Inza, Adolfo, Irving, Jessica C E, Jamalreyhani, Mohammadreza, Kafka, Alan, Koymans, Mathijs R, Labedz, Celeste R, Larose, Eric, Lindsey, Nathaniel J, McKinnon, Mika, Megies, Tobias, Miller, Meghan S, Minarik, William, Moresi, Louis, Márquez-Ramírez, Víctor H, Möllhoff, Martin, Nesbitt, Ian M, Niyogi, Shankho, Ojeda, Javier, Oth, Adrien, Proud, Simon, Pulli, Jay, Retailleau, Lise, Rintamäki, Annukka E, Satriano, Claudio, Savage, Martha K, Shani-Kadmiel, Shahar, Sleeman, Reinoud, Sokos, Efthimios, Stammler, Klaus, Stott, Alexander E, Subedi, Shiba, Sørensen, Mathilde B, Taira, Taka'aki, Tapia, Mar, Turhan, Fatih, van der Pluijm, Ben, Vanstone, Mark, Vergne, Jerome, Vuorinen, Tommi A T, Warren, Tristram, Wassermann, Joachim, Xiao, Han
Published in Science (American Association for the Advancement of Science) (11.09.2020)
Published in Science (American Association for the Advancement of Science) (11.09.2020)
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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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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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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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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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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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Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy
Pascual-Goñi, Elba, Fehmi, Janev, Lleixà, Cinta, Martín-Aguilar, Lorena, Devaux, Jérôme, Höftberger, Romana, Delmont, Emilien, Doppler, Kathrin, Sommer, Claudia, Radunovic, Aleksandar, Carvajal, Alejandra, Smyth, Shane, Williams, Laura, Mazanec, Radim, Potočková, Veronika, Hinds, Nigel, Cassereau, Julien, Viala, Karine, Lefilliatre, Mathilde, Nicolas, Guillaume, Foley, Peter, Leypoldt, Frank, Keddie, Stephen, Lunn, Michael P, Zimprich, Fritz, Nunkoo, Vharoon Sharma, Löscher, Wolfgang N, Martínez-Martínez, Laura, Díaz-Manera, Jordi, Rojas-Garcia, Ricard, Illa, Isabel, Rinaldi, Simon, Querol, Luis
Published in Brain (London, England : 1878) (07.05.2021)
Published in Brain (London, England : 1878) (07.05.2021)
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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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Post‐little ice age paraglacial processes and landforms in the high Iberian mountains: A review
Serrano, Enrique, Oliva, Marc, González‐García, María, López‐Moreno, Juan Ignacio, González‐Trueba, Juan, Martín‐Moreno, Raúl, Gómez‐Lende, Manuel, Martín‐Díaz, Jordi, Nofre, Jordi, Palma, Pedro
Published in Land degradation & development (01.11.2018)
Published in Land degradation & development (01.11.2018)
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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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Seismometers Within Cities: A Tool to Connect Earth Sciences and Society
Diaz, Jordi, Schimmel, Martin, Ruiz, Mario, Carbonell, Ramon
Published in Frontiers in earth science (Lausanne) (05.02.2020)
Published in Frontiers in earth science (Lausanne) (05.02.2020)
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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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