Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Jordi Diaz‐Manera"'
Autor:
Mark Roberts, Jordi Diaz-Manera, Antonio Toscano, Sabrina Sacconi, Mazen M Dimachkie, Nicole Armstrong, Robert Henderson, Benedikt Schoser, Priya S Kishnani, Olivier Huynh-Ba, Nathan Thibault, Young Chul Choi, Shugo Suwazono, Paulo Victor Sgobbi de Souza, Magali Periquet
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/2e003ce4137a4384adc92d7fe85d02dc
Autor:
Amy Doody, Lindsay Alfano, Jordi Diaz-Manera, Linda Lowes, Tahseen Mozaffar, Katherine D. Mathews, Conrad C. Weihl, Matthew Wicklund, Man Hung, Jeffrey Statland, Nicholas E. Johnson, On behalf of the GRASP-LGMD Consortium
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-13 (2024)
Abstract Background The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome a
Externí odkaz:
https://doaj.org/article/c61603f586d34df6b7a34a1f86705733
Autor:
Xavier Suárez-Calvet, Esther Fernández-Simón, Daniel Natera, Cristina Jou, Patricia Pinol-Jurado, Elisa Villalobos, Carlos Ortez, Alexandra Monceau, Marianela Schiava, Anna Codina, José Verdu-Díaz, James Clark, Zoe Laidler, Priyanka Mehra, Rasya Gokul-Nath, Jorge Alonso-Perez, Chiara Marini-Bettolo, Giorgio Tasca, Volker Straub, Michela Guglieri, Andrés Nascimento, Jordi Diaz-Manera
Publikováno v:
Cell Death and Disease, Vol 14, Iss 9, Pp 1-15 (2023)
Abstract Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of
Externí odkaz:
https://doaj.org/article/63d64f9d3e584ca18f038365d5b380e0
Autor:
Bhaskar Roy, Allison Peck, Teresinha Evangelista, Gerald Pfeffer, Leo Wang, Jordi Diaz‐Manera, Manisha Korb, Matthew P. Wicklund, Margherita Milone, Miriam Freimer, Hani Kushlaf, Rocio‐Nur Villar‐Quiles, Tanya Stojkovic, Merrilee Needham, Johanna Palmio, Thomas E. Lloyd, Benison Keung, Tahseen Mozaffar, Conrad Chris Weihl, Virginia Kimonis
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 686-695 (2023)
Abstract Valosin‐containing protein (VCP)‐associated multisystem proteinopathy (MSP) is a rare genetic disorder with abnormalities in the autophagy pathway leading to various combinations of myopathy, bone diseases, and neurodegeneration. Ninety
Externí odkaz:
https://doaj.org/article/a319ff4d3dcf4e0d84c1086d8301b2c9
Autor:
Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish‐Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, 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, Elena Pegoraro, Jerry R. Mendell, The Jain COS Consortium, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier, Jordi Diaz‐Manera
Publikováno v:
Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 6, Pp 2888-2897 (2022)
Abstract Background Water T2 (T2H2O) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials. Here, we investigated the prognostic utility of
Externí odkaz:
https://doaj.org/article/a01a423d88254013ace5119cb35d6db2
Autor:
Esther Valero-Tena, Mercedes Roca-Espiau, Jose Verdú-Díaz, Jordi Diaz-Manera, Marcio Andrade-Campos, Pilar Giraldo
Publikováno v:
Frontiers in Medicine, Vol 10 (2023)
Gaucher disease (GD) is a genetic lysosomal disorder characterized by high bone marrow (BM) involvement and skeletal complications. The pathophysiology of these complications is not fully elucidated. Magnetic resonance imaging (MRI) is the gold stand
Externí odkaz:
https://doaj.org/article/5fc0534642184290b209e553bb13ca7b
Autor:
Jordi Diaz-Manera, Channa Hewamadduma, Giovanni Meola, Federica Montagnese, Sabrina Sacconi, Philipp von Gallwitz, Ulrike Nowak, Robert Pleticha, Alla Zozulya Weidenfeller
Publikováno v:
European Medical Journal, Vol 6, Iss 2, Pp 37-46 (2021)
Non-dystrophic myotonias (NDM) manifest as delayed muscle relaxation leading to muscle stiffness. This may diminish or worsen with repeated contractions, depending on NDM subtype. These are divided into those affecting the chloride channel CLC-1, due
Externí odkaz:
https://doaj.org/article/c418f92159634fe89070876f1b18b46a
Autor:
Giulio Cossu, Rossana Tonlorenzi, Silvia Brunelli, Maurilio Sampaolesi, Graziella Messina, Emanuele Azzoni, Sara Benedetti, Stefano Biressi, Chiara Bonfanti, Laricia Bragg, Jordi Camps, Ornella Cappellari, Marco Cassano, Fabio Ciceri, Marcello Coletta, Diego Covarello, Stefania Crippa, M. Gabriella Cusella-De Angelis, Luciana De Angelis, Arianna Dellavalle, Jordi Diaz-Manera, Daniela Galli, Francesco Galli, Cesare Gargioli, Mattia F. M. Gerli, Giorgia Giacomazzi, Beatriz G. Galvez, Hidetoshi Hoshiya, Maria Guttinger, Anna Innocenzi, M. Giulia Minasi, Laura Perani, Stefano C Previtali, Mattia Quattrocelli, Martina Ragazzi, Urmas Roostalu, Giuliana Rossi, Raffaella Scardigli, Dario Sirabella, Francesco Saverio Tedesco, Yvan Torrente, Gonzalo Ugarte
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
In 2002 we published an article describing a population of vessel-associated progenitors that we termed mesoangioblasts (MABs). During the past decade evidence had accumulated that during muscle development and regeneration things may be more complex
Externí odkaz:
https://doaj.org/article/1f35883d296649508fec2319ea20c37c
Autor:
Cinta Lleixà, Lorena Martín-Aguilar, Elba Pascual-Goñi, Teresa Franco, Marta Caballero, Noemí de Luna, Eduard Gallardo, Xavier Suárez-Calvet, Laura Martínez-Martínez, Jordi Diaz-Manera, Ricard Rojas-García, Elena Cortés-Vicente, Joana Turón, Carlos Casasnovas, Christian Homedes, Gerardo Gutiérrez-Gutiérrez, María Concepción Jimeno-Montero, José Berciano, Maria José Sedano-Tous, Tania García-Sobrino, Julio Pardo-Fernández, Celedonio Márquez-Infante, Iñigo Rojas-Marcos, Ivonne Jericó-Pascual, Eugenia Martínez-Hernández, Germán Morís de la Tassa, Cristina Domínguez-González, Cándido Juárez, Isabel Illa, Luis Querol
Publikováno v:
Journal of Neuroinflammation, Vol 18, Iss 1, Pp 1-13 (2021)
Abstract Background Guillain–Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain unknown in a substa
Externí odkaz:
https://doaj.org/article/4683d496544444ce8ced3a1c5a156d32
Autor:
Esther Fernández-Simón, Cinta Lleixà, Xavier Suarez-Calvet, Jordi Diaz-Manera, Isabel Illa, Eduard Gallardo, Noemí de Luna
Publikováno v:
BMC Musculoskeletal Disorders, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background Dysferlinopathies are a group of muscle disorders causing muscle weakness and absence or low levels of dysferlin, a type-II transmembrane protein and the causative gene of these dystrophies. Dysferlin is implicated in vesicle fusi
Externí odkaz:
https://doaj.org/article/a3fdec49c5ec4219a91b677cb013c294