Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients за авторством David Reyes-Leiva, David Reyes-Leiva, Jorge Alonso-Pérez, Jorge Alonso-Pérez, Mercedes Mayos, Claudia Nuñez-Peralta, Jaume Llauger, Izaskun Belmonte, Irene Pedrosa-Hernández, Sonia Segovia, Sonia Segovia, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera

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Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy за авторством 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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Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests за авторством Claudia Nuñez-Peralta, Claudia Nuñez-Peralta, Paula Montesinos, Alicia Alonso-Jiménez, Jorge Alonso-Pérez, David Reyes-Leiva, Javier Sánchez-González, Jaume Llauger-Roselló, Sonia Segovia, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Antonio Martínez-Noguera, Briano Matellini-Mosca, Glenn Walter, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera

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Corrigendum: Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests за авторством Claudia Nuñez-Peralta, Claudia Nuñez-Peralta, Paula Montesinos, Alicia Alonso-Jiménez, Jorge Alonso-Pérez, David Reyes-Leiva, Javier Sánchez-González, Jaume Llauger-Roselló, Sonia Segovia, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Antonio Martínez-Noguera, Briano Matellini-Mosca, Glenn Walter, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera

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Editorial: Imaging of Neuromuscular Diseases за авторством Jordi Diaz-Manera, Anna Pichiecchio, Anna Pichiecchio, Francesco Santini, Francesco Santini, Francesco Santini, Massimiliano Filosto, Massimiliano Filosto

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Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis за авторством Noemí De Luna, Xavier Suárez-Calvet, Cinta Lleixà, Jordi Diaz-Manera, Montse Olivé, Isabel Illa, Eduard Gallardo

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Survey on the management of Pompe disease in routine clinical practice in Spain за авторством Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego, Jordi Díaz-Manera

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Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes за авторством Esther Fernández-Simón, Cinta Lleixà, Xavier Suarez-Calvet, Jordi Diaz-Manera, Isabel Illa, Eduard Gallardo, Noemí de Luna

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Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E за авторством Chengcheng Li, Jackson Wilborn, Sara Pittman, Jil Daw, Jorge Alonso-Pérez, Jordi Díaz-Manera, Conrad C. Weihl, Gabe Haller

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Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B за авторством Marshall W. Hogarth, Aurelia Defour, Christopher Lazarski, Eduard Gallardo, Jordi Diaz Manera, Terence A. Partridge, Kanneboyina Nagaraju, Jyoti K. Jaiswal

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Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions за авторством Lidia Carreño-Gago, Lidia Carreño-Gago, Cora Blázquez-Bermejo, Cora Blázquez-Bermejo, Jordi Díaz-Manera, Jordi Díaz-Manera, Yolanda Cámara, Yolanda Cámara, Eduard Gallardo, Eduard Gallardo, Ramon Martí, Ramon Martí, Javier Torres-Torronteras, Javier Torres-Torronteras, Elena García-Arumí, Elena García-Arumí, Elena García-Arumí

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Understanding the Impact of Non-Dystrophic Myotonia on Patients and Caregivers: Results from a Burden of Disease Healthcare Survey за авторством Jordi Diaz-Manera, Channa Hewamadduma, Giovanni Meola, Federica Montagnese, Sabrina Sacconi, Philipp von Gallwitz, Ulrike Nowak, Robert Pleticha, Alla Zozulya Weidenfeller

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Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy за авторством Ursula Moore, Marni Jacobs, Marni Jacobs, Roberto Fernandez-Torron, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera, Jordi Diaz-Manera, Jordi Diaz-Manera

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Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy. за авторством Eduard Gallardo, Noemi de Luna, Jordi Diaz-Manera, Ricardo Rojas-García, Lidia Gonzalez-Quereda, Bàrbara Flix, Antoine de Morrée, Silvère van der Maarel, Isabel Illa

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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 за авторством Matthias Boentert, Kenneth I. Berger, Jordi Díaz-Manera, Mazen M. Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak, J. Jaime Caro

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Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease за авторством Esther Valero-Tena, Esther Valero-Tena, Mercedes Roca-Espiau, Jose Verdú-Díaz, Jordi Diaz-Manera, Marcio Andrade-Campos, Marcio Andrade-Campos, Marcio Andrade-Campos, Pilar Giraldo, Pilar Giraldo

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Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators. за авторством 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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Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function. за авторством Sebastián Figueroa-Bonaparte, Sonia Segovia, Jaume Llauger, Izaskun Belmonte, Irene Pedrosa, Aída Alejaldre, Mercè Mayos, Guillermo Suárez-Cuartín, Eduard Gallardo, Isabel Illa, Jordi Díaz-Manera, Spanish Pompe Study Group

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P028: Switching treatment to cipaglucosidase alfa+miglustat positively affects motor function and quality of life in patients with late-onset Pompe disease за авторством Priya Kishnani, Barry Byrne, Kristl Claeys, Paula Clemens, Jordi Díaz-Manera, Mazen Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Antonio Toscano, Noemi Hummel, Fred Holdbrook, Simon Shohet, Benedikt Schoser

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Platelet Derived Growth Factor-AA Correlates With Muscle Function Tests and Quantitative Muscle Magnetic Resonance in Dystrophinopathies за авторством 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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