Therapeutic Options for the Management of Pompe Disease: Current Challenges and Clinical Evidence in Therapeutics and Clinical Risk Management

por Bolano-Diaz, Carla, Diaz-Manera, Jordi
Publicado 2022

Muscle MRI in muscular dystrophies

por Díaz-Manera, Jordi, Llauger, Jaume, Gallardo, Eduard, Illa, Isabel
Publicado 2015

Editorial: Imaging of Neuromuscular Diseases

por Diaz-Manera, Jordi, Pichiecchio, Anna, Santini, Francesco, Filosto, Massimiliano
Publicado 2021

Globular Adiponectin as a Complete Mesoangioblast Regulator: Role in Proliferation, Survival, Motility, and Skeletal Muscle Differentiation

por Fiaschi, Tania, Tedesco, Francesco Saverio, Giannoni, Elisa, Diaz-Manera, Jordi, Parri, Matteo, Cossu, Giulio, Chiarugi, Paola
Publicado 2010

Advantages of digital technology in the assessment of bone marrow involvement in Gaucher's disease

por Valero-Tena, Esther, Roca-Espiau, Mercedes, Verdú-Díaz, Jose, Diaz-Manera, Jordi, Andrade-Campos, Marcio, Giraldo, Pilar
Publicado 2023

Hypoxia triggers IFN-I production in muscle: Implications in dermatomyositis

por De Luna, Noemí, Suárez-Calvet, Xavier, Lleixà, Cinta, Diaz-Manera, Jordi, Olivé, Montse, Illa, Isabel, Gallardo, Eduard
Publicado 2017

Proteasome inhibitors reduce thrombospondin-1 release in human dysferlin-deficient myotubes

por Fernández-Simón, Esther, Lleixà, Cinta, Suarez-Calvet, Xavier, Diaz-Manera, Jordi, Illa, Isabel, Gallardo, Eduard, de Luna, Noemí
Publicado 2020

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

por Domínguez-González, Cristina, Díaz-Marín, Carmina, Juntas-Morales, Raúl, Nascimiento-Osorio, Andrés, Rivera-Gallego, Alberto, Díaz-Manera, Jordi
Publicado 2022

Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E

por Li, Chengcheng, Wilborn, Jackson, Pittman, Sara, Daw, Jil, Alonso-Pérez, Jorge, Díaz-Manera, Jordi, Weihl, Conrad C., Haller, Gabe
Publicado 2023

Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2B

por Hogarth, Marshall W., Defour, Aurelia, Lazarski, Christopher, Gallardo, Eduard, Diaz Manera, Jordi, Partridge, Terence A., Nagaraju, Kanneboyina, Jaiswal, Jyoti K.
Publicado 2019

Identification and Characterization of New RNASEH1 Mutations Associated With PEO Syndrome and Multiple Mitochondrial DNA Deletions

por Carreño-Gago, Lidia, Blázquez-Bermejo, Cora, Díaz-Manera, Jordi, Cámara, Yolanda, Gallardo, Eduard, Martí, Ramon, Torres-Torronteras, Javier, García-Arumí, Elena
Publicado 2019

Antibodies against cell adhesion molecules and neural structures in paraneoplastic neuropathies

por Siles, Ana M., Martínez‐Hernández, Eugenia, Araque, Josefa, Diaz‐Manera, Jordi, Rojas‐Garcia, Ricard, Gallardo, Eduard, Illa, Isabel, Graus, Francesc, Querol, Luis
Publicado 2018

MON-LB073 The Serum Creatinine to Serum Cystatin C Ratio Is a Reliable Surrogate Marker of Sarcopenia in Patients with Cushing's Syndrome in Remission

por Martel, Luciana, Bascuñana, Helena, Alonso, Alicia, Diaz-Manera, Jordi, Llauger, Jaume, Nuñez-Peralta, Claudia, Biagetti, Betina, Montesinos, Paula, Webb, Susan, Valassi, Elena
Publicado 2019

MON-LB074 Ultrasonography May Reliably Assess Muscle Architecture in Patients with Cushing's Syndrome in Remission: Comparison with Gold-Standard Muscle MRI

por Martel, Luciana, Alicia, Alicia, Basuñana, Helena, Diaz-Manera, Jordi, Llauger, Jaume, Nuñez-Peralta, Claudia, Biagetti, Betina, Montesinos, Paula, Webb, Susan, Valassi, Elena
Publicado 2019

Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study

por Doody, Amy, Alfano, Lindsay, Diaz-Manera, Jordi, Lowes, Linda, Mozaffar, Tahseen, Mathews, Kathy, Weihl, Conrad C., Wicklund, Matthew, Statland, Jeffery, Johnson, Nicholas E.
Publicado 2023

Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients

por Reyes-Leiva, David, Alonso-Pérez, Jorge, Mayos, Mercedes, Nuñez-Peralta, Claudia, Llauger, Jaume, Belmonte, Izaskun, Pedrosa-Hernández, Irene, Segovia, Sonia, Díaz-Manera, Jordi
Publicado 2021

Comparison of Dysferlin Expression in Human Skeletal Muscle with That in Monocytes for the Diagnosis of Dysferlin Myopathy

por Gallardo, Eduard, de Luna, Noemi, Diaz-Manera, Jordi, Rojas-García, Ricardo, Gonzalez-Quereda, Lidia, Flix, Bàrbara, de Morrée, Antoine, van der Maarel, Silvère, Illa, Isabel
Publicado 2011

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

por 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
Publicado 2016

Analysis of Serum miRNA Profiles of Myasthenia Gravis Patients

por 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
Publicado 2014

Different Approaches to Analyze Muscle Fat Replacement With Dixon MRI in Pompe Disease

por Alonso-Jiménez, Alicia, Nuñez-Peralta, Claudia, Montesinos, Paula, Alonso-Pérez, Jorge, García, Carme, Montiel, Elena, Belmonte, Izaskun, Pedrosa, Irene, Segovia, Sonia, Llauger, Jaume, Díaz-Manera, Jordi
Publicado 2021