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

by 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
Published 2021-03-01

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

by Alicia Alonso-Jiménez, Alicia Alonso-Jiménez, Claudia Nuñez-Peralta, Paula Montesinos, Jorge Alonso-Pérez, Jorge Alonso-Pérez, Carme García, Elena Montiel, Izaskun Belmonte, Irene Pedrosa, Sonia Segovia, Sonia Segovia, Jaume Llauger, Jordi Díaz-Manera, Jordi Díaz-Manera, Jordi Díaz-Manera
Published 2021-07-01

Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests

by 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
Published 2021-03-01

Corrigendum: Magnetization Transfer Ratio in Lower Limbs of Late Onset Pompe Patients Correlates With Intramuscular Fat Fraction and Muscle Function Tests

by 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
Published 2021-07-01

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

by Noemí De Luna, Xavier Suárez-Calvet, Cinta Lleixà, Jordi Diaz-Manera, Montse Olivé, Isabel Illa, Eduard Gallardo
Published 2017-08-01

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

by Esther Fernández-Simón, Cinta Lleixà, Xavier Suarez-Calvet, Jordi Diaz-Manera, Isabel Illa, Eduard Gallardo, Noemí de Luna
Published 2020-11-01

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

by Marshall W. Hogarth, Aurelia Defour, Christopher Lazarski, Eduard Gallardo, Jordi Diaz Manera, Terence A. Partridge, Kanneboyina Nagaraju, Jyoti K. Jaiswal
Published 2019-06-01

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

by 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
Published 2019-06-01

Understanding the Impact of Non-Dystrophic Myotonia on Patients and Caregivers: Results from a Burden of Disease Healthcare Survey

by Jordi Diaz-Manera, Channa Hewamadduma, Giovanni Meola, Federica Montagnese, Sabrina Sacconi, Philipp von Gallwitz, Ulrike Nowak, Robert Pleticha, Alla Zozulya Weidenfeller
Published 2021-06-01

Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy

by 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
Published 2020-12-01

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

by 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
Published 2011-01-01

Analysis of serum miRNA profiles of myasthenia gravis patients.

by Gisela Nogales-Gadea, Alba Ramos-Fransi, Xavier Suárez-Calvet, Miquel Navas, Ricard Rojas-García, Jose Luis Mosquera, Jordi Díaz-Manera, Luis Querol, Eduard Gallardo, Isabel Illa
Published 2014-01-01

Transcriptome Analysis of Ullrich Congenital Muscular Dystrophy Fibroblasts Reveals a Disease Extracellular Matrix Signature and Key Molecular Regulators.

by 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
Published 2015-01-01

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

by 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
Published 2016-01-01

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

by 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
Published 2021-06-01

Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study

by Sebastian Figueroa-Bonaparte, Jaume Llauger, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Paula Montesinos, Javier Sánchez-González, Alicia Alonso-Jiménez, Eduard Gallardo, Isabel Illa, Spanish Pompe group, Jordi Díaz-Manera
Published 2018-07-01

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

by Elba Pascual-Goñi, Lorena Martín-Aguilar, Cinta Lleixà, Laura Martínez-Martínez, Manuel J. Simón-Talero, Jordi Díaz-Manera, Elena Cortés-Vicente, Ricard Rojas-García, Esther Moga, Cándido Juárez, Isabel Illa, Luis Querol
Published 2021-02-01

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

by Claudia Nuñez‐Peralta, Jorge Alonso‐Pérez, Jaume Llauger, Sonia Segovia, Paula Montesinos, Izaskun Belmonte, Irene Pedrosa, Elena Montiel, Alicia Alonso‐Jiménez, Javier Sánchez‐González, Antonio Martínez‐Noguera, Isabel Illa, Jordi Díaz‐Manera
Published 2020-08-01

Alterations in cerebral white matter and neuropsychology in patients with cirrhosis and falls.

by Beatriz Gómez-Ansón, Eva Román, Ramón Fernández de Bobadilla, Patricia Pires-Encuentra, Jordi Díaz-Manera, Fidel Núñez, Saül Martinez-Horta, Yolanda Vives-Gilabert, Javier Pagonabarraga, Jaume Kulisevsky, Juan Cordoba, Carlos Guarner, Germán Soriano
Published 2015-01-01

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

by Xavier Suárez-Calvet, Eduard Gallardo, Iago Pinal-Fernandez, Noemi De Luna, Cinta Lleixà, Jordi Díaz-Manera, Ricardo Rojas-García, Ivan Castellví, M. Angeles Martínez, Josep M. Grau, Albert Selva-O’Callaghan, Isabel Illa
Published 2017-07-01