المؤلفون: Priya S. Kishnani, Barry J. Byrne, Kristl G. Claeys, Jordi Díaz-Manera, Mazen M. Dimachkie, Hani Kushlaf, Tahseen Mozaffar, Mark Roberts, Benedikt Schoser, Noemi Hummel, Agnieszka Kopiec, Fred Holdbrook, Simon Shohet, Antonio Toscano, on behalf of the PROPEL Study Group

المصدر: Journal of Patient-Reported Outcomes, Vol 8, Iss 1, Pp 1-9 (2024)

مصطلحات موضوعية: Pompe disease, Patient-reported outcomes, Patient-reported Outcome Measurement Information System, Health-related quality of life, Public aspects of medicine, RA1-1270

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2509-8020

URL الوصول: https://doaj.org/article/6c94129535e0439fa3e890c6a89ede54

المؤلفون: Esther Fernández-Simón, Patricia Piñol-Jurado, Rasya Gokul-Nath, Adrienne Unsworth, Jorge Alonso-Pérez, Marianela Schiava, Andres Nascimento, Giorgio Tasca, Rachel Queen, Dan Cox, Xavier Suarez-Calvet, Jordi Díaz-Manera

المصدر: Frontiers in Cell and Developmental Biology, Vol 12 (2024)

مصطلحات موضوعية: muscle dystrophies, fibro-adipogenic progenitor cells, fibrosis, adipogenesis, single cell RNA sequencing, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2024.1399319/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/c79c38608dbf4e30a0c73d3b15edbb5a

المؤلفون: Patricia Piñol-Jurado, José Verdú-Díaz, Esther Fernández-Simón, Cristina Domínguez-González, Aurelio Hernández-Lain, Conor Lawless, Amy Vincent, Alejandro González-Chamorro, Elisa Villalobos, Alexandra Monceau, Zoe Laidler, Priyanka Mehra, James Clark, Andrew Filby, David McDonald, Paul Rushton, Andrew Bowey, Jorge Alonso Pérez, Giorgio Tasca, Chiara Marini-Bettolo, Michela Guglieri, Volker Straub, Xavier Suárez-Calvet, Jordi Díaz-Manera

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/61a0d77c3dfe43de98fb8cb832575a27

المؤلفون: 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

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)

مصطلحات موضوعية: Late-onset Pompe disease, Clinical trial, Win ratio, Enzyme replacement therapy, Avalglucosidase alfa, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/e7b737f3c80f41c2a3616eefc9531926

المؤلفون: 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

المصدر: Genetics in Medicine Open, Vol 2, Iss , Pp 100905- (2024)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774424000517; https://doaj.org/toc/2949-7744

URL الوصول: https://doaj.org/article/7e8f3ffae6b041ad994f1232138e95db

المؤلفون: Cristina Domínguez-González, Carmina Díaz-Marín, Raúl Juntas-Morales, Andrés Nascimiento-Osorio, Alberto Rivera-Gallego, Jordi Díaz-Manera

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-7 (2022)

مصطلحات موضوعية: Antibodies, Diagnosis, Follow-up, Guidelines, Pompe disease, Treatment, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1ffc0abf60b247ee9369406a29763251

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

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 12 (2023)

مصطلحات موضوعية: Genetics, Muscle biology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/d80b71611c5f4cd7b0e9659e8d6e5684

المؤلفون: Harmen Reyngoudt, Fiona E. Smith, Ericky Caldas de Almeida Araújo, Ian Wilson, Roberto Fernández‐Torrón, Meredith K. James, Ursula R. Moore, Jordi Díaz‐Manera, Benjamin Marty, Noura Azzabou, Heather Gordish, Laura Rufibach, Tim Hodgson, Dorothy Wallace, Louise Ward, Jean‐Marc Boisserie, Julien Le Louër, Heather Hilsden, Helen Sutherland, Aurélie Canal, Jean‐Yves Hogrel, Marni Jacobs, Tanya Stojkovic, Kate Bushby, Anna Mayhew, Jain Clinical Outcome Study for Dysferlinopathy consortium, Volker Straub, Pierre G. Carlier, Andrew M. Blamire

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 3, Pp 1850-1863 (2022)

مصطلحات موضوعية: Dysferlinopathy, Quantitative MRI, 31P MRS, Longitudinal, Outcome measures, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

URL الوصول: https://doaj.org/article/db937d5c7a7e45dcb101be7758743f29

المؤلفون: Esther Fernández‐Simón, Xavier Suárez‐Calvet, Ana Carrasco‐Rozas, Patricia Piñol‐Jurado, Susana López‐Fernández, Gemma Pons, Joan Josep Bech Serra, Carolina de laTorre, Noemí deLuna, Eduard Gallardo, Jordi Díaz‐Manera

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 2, Pp 1373-1384 (2022)

مصطلحات موضوعية: Duchenne muscular dystrophy, Fibro‐adipogenic precursor cells, Platelet‐derived growth factor, Muscular dystrophies, Fibrosis, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

URL الوصول: https://doaj.org/article/8197b823bac74496a80deffb2f41763a

المؤلفون: 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

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 11, Iss 4, Pp 1032-1046 (2020)

مصطلحات موضوعية: Enzymatic replacement therapy, Fatty replacement, Muscle degeneration, Muscle MRI, Muscle wasting, Pompe disease, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2190-5991; https://doaj.org/toc/2190-6009

URL الوصول: https://doaj.org/article/86919caaaf774def9498fb681c684de2

المؤلفون: Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub

المصدر: Frontiers in Neurology, Vol 13 (2022)

مصطلحات موضوعية: limb girdle muscular dystrophy, dysferlinopathy, PROMs, quality of life, clinical outcome assessments, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2022.828525/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/0470816544d14c339d5608df7267ca17

المؤلفون: Ana Carrasco‐Rozas, Esther Fernández‐Simón, Maria Cinta Lleixà, Izaskun Belmonte, Irene Pedrosa-Hernandez, Elena Montiel-Morillo, Claudia Nuñez‐Peralta, Jaume Llauger Rossello, Sonia Segovia, Noemí De Luna, Xavier Suarez‐Calvet, Isabel Illa, Pompe Spanish Study group, Jordi Díaz‐Manera, Eduard Gallardo

المصدر: Annals of Clinical and Translational Neurology, Vol 6, Iss 7, Pp 1214-1224 (2019)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/3d16d64d0a1c4c4685e9063dc785cefc

المؤلفون: Cristina Domínguez-González, Aurelio Hernández-Laín, Eloy Rivas, Ana Hernández-Voth, Javier Sayas Catalán, Roberto Fernández-Torrón, Carmen Fuiza-Luces, Jorge García García, Germán Morís, Montse Olivé, Frances Miralles, Jordi Díaz-Manera, Candela Caballero, Bosco Méndez-Ferrer, Ramon Martí, Elena García Arumi, María Carmen Badosa, Jesús Esteban, Cecilia Jimenez-Mallebrera, Alberto Blazquez Encinar, Joaquín Arenas, Michio Hirano, Miguel Ángel Martin, Carmen Paradas

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: TK2 deficiency, Mitochondrial myopathy, Multiple deletions, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-019-1071-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/e7796e2f0d6c4768bedacd49fb603f21

المؤلفون: Jorge Alonso-Pérez, Ana Carrasco-Rozas, Maria Borrell-Pages, Esther Fernández-Simón, Patricia Piñol-Jurado, Lina Badimon, Lutz Wollin, Cinta Lleixà, Eduard Gallardo, Montse Olivé, Jordi Díaz-Manera, Xavier Suárez-Calvet

المصدر: Biomedicines, Vol 10, Iss 10, p 2629 (2022)

مصطلحات موضوعية: sarcoglycanopathy, Sgca, muscular dystrophy, fibrosis, nintedanib, mice, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/10/10/2629; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/e87888f2dbfb4a99bacc0ccf348e687b

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

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: quantitative MRI, Dixon, Pompe, fat replacement, outcome measures, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.675781/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/d19a3ff6daf14f2ba6953357d47c900f

المؤلفون: Claudia Nuñez-Peralta, Paula Montesinos, Alicia Alonso-Jiménez, Jorge Alonso-Pérez, David Reyes-Leiva, Javier Sánchez-González, Jaume Llauger-Roselló, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Antonio Martínez-Noguera, Briano Matellini-Mosca, Glenn Walter, Jordi Díaz-Manera

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: late onset Pompe disease, lower limb muscle, magnetic transfer ratio, intramuscular fat fraction, muscle function tests, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.727020/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/d83de309379947a9a168a4c2cb7f4808

المؤلفون: Alicia Alonso-Jiménez, Esther Fernández-Simón, Daniel Natera-de Benito, Carlos Ortez, Carme García, Elena Montiel, Izaskun Belmonte, Irene Pedrosa, Sonia Segovia, Patricia Piñol-Jurado, Ana Carrasco-Rozas, Xavier Suárez-Calvet, Cecilia Jimenez-Mallebrera, Andrés Nascimento, Jaume Llauger, Claudia Nuñez-Peralta, Paula Montesinos, Jorge Alonso-Pérez, Eduard Gallardo, Isabel Illa, Jordi Díaz-Manera

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: PDGF, MRI, biomarker, Duchenne, Becker, dystrophinopathy, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.659922/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/71b9634a1f1544c0bdd507c958aefd2e

المؤلفون: Claudia Nuñez-Peralta, Paula Montesinos, Alicia Alonso-Jiménez, Jorge Alonso-Pérez, David Reyes-Leiva, Javier Sánchez-González, Jaume Llauger-Roselló, Sonia Segovia, Izaskun Belmonte, Irene Pedrosa, Antonio Martínez-Noguera, Briano Matellini-Mosca, Glenn Walter, Jordi Díaz-Manera

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: late onset Pompe disease, lower limb muscle, magnetic transfer ratio, intramuscular fat fraction, muscle function tests, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.634766/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/d80748be2f744bcabc3b2c72b2b7fb04

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

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: Pompe disease, glycogen storage disease type II, MRI, muscular MRI, respiratory insufficiency, accessory respiratory muscles, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.621257/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/9ec1aef99ea741589fdfb06e20e783ff

المؤلفون: Emma Koehorst, Renato Odria, Júlia Capó, Judit Núñez-Manchón, Andrea Arbex, Miriam Almendrote, Ian Linares-Pardo, Daniel Natera-de Benito, Verónica Saez, Andrés Nascimento, Carlos Ortez, Miguel Ángel Rubio, Jordi Díaz-Manera, Jorge Alonso-Pérez, Giuseppe Lucente, Agustín Rodriguez-Palmero, Alba Ramos-Fransi, Alicia Martínez-Piñeiro, Gisela Nogales-Gadea, Mònica Suelves

المصدر: Biomedicines, Vol 10, Iss 6, p 1372 (2022)

مصطلحات موضوعية: myotonic dystrophy, CpG islands, DNA methylation, epigenetics, phenotype severity, DM1 biopsies, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/10/6/1372; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/b576b232a7bf4442838513ca2c248aa2