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Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B
Author / Creator:Hogarth, Marshall W. ; Defour, Aurelia ; Lazarski, Christopher ; Gallardo, Eduard ; Diaz Manera, Jordi ; Partridge, Terence A. ; Nagaraju, Kanneboyina ; Jaiswal, Jyoti K.
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-06, Vol.10 (1), p.2430-13, Article 2430
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Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids
Author / Creator: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
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-06, Vol.31 (6), p.e16267-n/a
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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
Author / Creator:Gutschmidt Kristina ; Musumeci Olimpia ; Díaz-Manera Jordi ; Yin-Hsiu, Chien ; Knop, Karl Christian ; Wenninger, Stephan ; Montagnese Federica ; Pugliese Alessia ; Tavilla Graziana ; Alonso-Pérez, Jorge ; Hwu Paul Wuh-Liang ; Toscano, Antonio ; Schoser Benedikt
Publisher:Heidelberg: Springer Nature B.V
Journal title:Journal of neurology, 2021-07, Vol.268 (7), p.2482-2492
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Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-04, Vol.9 (1), p.6155, Article 6155
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Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024
Author / Creator: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.
Publisher:England: John Wiley & Sons, Inc
Journal title:European journal of neurology, 2024-09, Vol.31 (9), p.e16383-n/a
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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
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.14-8, Article 14
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Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles
Author / Creator: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
Publisher:Germany: John Wiley & Sons, Inc
Journal title:Journal of cachexia, sarcopenia and muscle, 2020-08, Vol.11 (4), p.1032-1046
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RhoA/ROCK2 signalling is enhanced by PDGF‐AA in fibro‐adipogenic progenitor cells: implications for Duchenne muscular dystrophy
Author / Creator: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
Publisher:Germany: John Wiley & Sons, Inc
Journal title:Journal of cachexia, sarcopenia and muscle, 2022-04, Vol.13 (2), p.1373-1384
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RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis
Author / Creator:Suárez-Calvet, Xavier ; Gallardo, Eduard ; Pinal-Fernandez, Iago ; De Luna, Noemi ; Lleixà, Cinta ; Díaz-Manera, Jordi ; Rojas-García, Ricardo ; Castellví, Ivan ; Martínez, M. Angeles ; Grau, Josep M. ; Selva-O’Callaghan, Albert ; Illa, Isabel
Publisher:England: BioMed Central Ltd
Journal title:Arthritis research & therapy, 2017-07, Vol.19 (1), p.174-7, Article 174
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Survey on the management of Pompe disease in routine clinical practice in Spain
Author / Creator:Domínguez-González, Cristina ; Díaz-Marín, Carmina ; Juntas-Morales, Raúl ; Nascimiento-Osorio, Andrés ; Rivera-Gallego, Alberto ; Díaz-Manera, Jordi
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.426-7, Article 426
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Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function
Author / Creator:Figueroa-Bonaparte, Sebastián ; Segovia, Sonia ; Llauger, Jaume ; Belmonte, Izaskun ; Pedrosa, Irene ; Alejaldre, Aída ; Mayos, Mercè ; Suárez-Cuartín, Guillermo ; Gallardo, Eduard ; Illa, Isabel ; Díaz-Manera, Jordi
Publisher:United States: Public Library of Science
Journal title:PloS one, 2016-10, Vol.11 (10), p.e0163493-e0163493
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Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration
Author / Creator:Piñol-Jurado, Patricia ; Verdú-Díaz, José ; Fernández-Simón, Esther ; Domínguez-González, Cristina ; Hernández-Lain, Aurelio ; Lawless, Conor ; Vincent, Amy ; González-Chamorro, Alejandro ; Villalobos, Elisa ; Monceau, Alexandra ; Laidler, Zoe ; Mehra, Priyanka ; Clark, James ; Filby, Andrew ; McDonald, David ; Rushton, Paul ; Bowey, Andrew ; Alonso Pérez, Jorge ; Tasca, Giorgio ; Marini-Bettolo, Chiara ; Guglieri, Michela ; Straub, Volker ; Suárez-Calvet, Xavier ; Díaz-Manera, Jordi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-02, Vol.14 (1), p.3365-13, Article 3365
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Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients
Author / Creator:Nogales-Gadea, Gisela ; Ramos-Fransi, Alba ; Suárez-Calvet, Xavier ; Navas, Miquel ; Rojas-García, Ricard ; Mosquera, Jose Luis ; Díaz-Manera, Jordi ; Querol, Luis ; Gallardo, Eduard ; Illa, Isabel
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-03, Vol.9 (3), p.e91927
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Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na‐MRI in Dysferlinopathy and Healthy Controls
Author / Creator:Neal, Mary A. ; Bolano‐Diaz, Carla F. ; Richardson, Mark ; Michell‐Sodhi, Jassi ; Muni‐Lofra, Robert ; James, Meredith K. ; Hollingsworth, Kieren G. ; Hilsden, Heather ; Wilson, Ian ; Blamire, Andrew M. ; Straub, Volker ; Thelwall, Peter E. ; Diaz‐Manera, Jordi
Publisher:Heidelberg: John Wiley & Sons, Inc
Journal title:Journal of cachexia, sarcopenia and muscle, 2025-02, Vol.16 (1), p.e13709-n/a
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The impact of rituximab infusion protocol on the long‐term outcome in anti‐MuSK myasthenia gravis
Author / Creator:Cortés‐Vicente, Elena ; Rojas‐Garcia, Ricard ; Díaz‐Manera, Jordi ; Querol, Luis ; Casasnovas, Carlos ; Guerrero‐Sola, Antonio ; Muñoz‐Blanco, José Luis ; Bárcena‐Llona, José Eulalio ; Márquez‐Infante, Celedonio ; Pardo, Julio ; Martínez‐Fernández, Eva María ; Usón, Mercedes ; Oliva‐Nacarino, Pedro ; Sevilla, Teresa ; Illa, Isabel
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2018-06, Vol.5 (6), p.710-716
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Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice
Author / Creator:Alonso-Pérez, Jorge ; Carrasco-Rozas, Ana ; Borrell-Pages, Maria ; Fernández-Simón, Esther ; Piñol-Jurado, Patricia ; Badimon, Lina ; Wollin, Lutz ; Lleixà, Cinta ; Gallardo, Eduard ; Olivé, Montse ; Díaz-Manera, Jordi ; Suárez-Calvet, Xavier
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2022-10, Vol.10 (10), p.2629
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Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy
Author / Creator:Roy, Bhaskar ; Peck, Allison ; Evangelista, Teresinha ; Pfeffer, Gerald ; Wang, Leo ; Diaz‐Manera, Jordi ; Korb, Manisha ; Wicklund, Matthew P. ; Milone, Margherita ; Freimer, Miriam ; Kushlaf, Hani ; Villar‐Quiles, Rocio‐Nur ; Stojkovic, Tanya ; Needham, Merrilee ; Palmio, Johanna ; Lloyd, Thomas E. ; Keung, Benison ; Mozaffar, Tahseen ; Weihl, Conrad Chris ; Kimonis, Virginia
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2023-05, Vol.10 (5), p.686-695
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Alterations in Cerebral White Matter and Neuropsychology in Patients with Cirrhosis and Falls
Author / Creator:Gómez-Ansón, Beatriz ; Román, Eva ; Fernández de Bobadilla, Ramón ; Pires-Encuentra, Patricia ; Díaz-Manera, Jordi ; Núñez, Fidel ; Martinez-Horta, Saül ; Vives-Gilabert, Yolanda ; Pagonabarraga, Javier ; Kulisevsky, Jaume ; Cordoba, Juan ; Guarner, Carlos ; Soriano, Germán
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-03, Vol.10 (3), p.e0118930-e0118930
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An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulatio...
Author / Creator:Koehorst, Emma ; Odria, Renato ; Capó, Júlia ; Núñez-Manchón, Judit ; Arbex, Andrea ; Almendrote, Miriam ; Linares-Pardo, Ian ; Natera-de Benito, Daniel ; Saez, Verónica ; Nascimento, Andrés ; Ortez, Carlos ; Rubio, Miguel Ángel ; Díaz-Manera, Jordi ; Alonso-Pérez, Jorge ; Lucente, Giuseppe ; Rodriguez-Palmero, Agustín ; Ramos-Fransi, Alba ; Martínez-Piñeiro, Alicia ; Nogales-Gadea, Gisela ; Suelves, Mònica
Publisher:Basel: MDPI AG
Journal title:Biomedicines, 2022-06, Vol.10 (6), p.1372
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Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies
Author / Creator:Siles, Ana M. ; Martínez‐Hernández, Eugenia ; Araque, Josefa ; Diaz‐Manera, Jordi ; Rojas‐Garcia, Ricard ; Gallardo, Eduard ; Illa, Isabel ; Graus, Francesc ; Querol, Luis
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2018-05, Vol.5 (5), p.559-569
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Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B

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Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids

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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

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Clinical and laboratory features of anti-MAG neuropathy without monoclonal gammopathy

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Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024

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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

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Follow‐up of late‐onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles

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RhoA/ROCK2 signalling is enhanced by PDGF‐AA in fibro‐adipogenic progenitor cells: implications for Duchenne muscular dystrophy

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RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis

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Survey on the management of Pompe disease in routine clinical practice in Spain

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Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function

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Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration

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Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients

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Rapid Quantitative Assessment of Muscle Sodium Dynamics After Exercise Using 23Na‐MRI in Dysferlinopathy and Healthy Controls

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The impact of rituximab infusion protocol on the long‐term outcome in anti‐MuSK myasthenia gravis

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Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice

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Provisional practice recommendation for the management of myopathy in VCP‐associated multisystem proteinopathy

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Alterations in Cerebral White Matter and Neuropsychology in Patients with Cirrhosis and Falls

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An Integrative Analysis of DNA Methylation Pattern in Myotonic Dystrophy Type 1 Samples Reveals a Distinct DNA Methylation Profile between Tissues and a Novel Muscle-Associated Epigenetic Dysregulatio...

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Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies

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