Zobrazeno 1 - 10
of 114
pro vyhledávání: '"Carmen, Paradas"'
Autor:
Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Abstract Background The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impac
Externí odkaz:
https://doaj.org/article/50645335f24240a3b4537c13391b28b5
Autor:
Jose L. Ortiz-Vitali, Jianbo Wu, Nasa Xu, Annie W. Shieh, Nima Niknejad, Megumi Takeuchi, Carmen Paradas, Chunru Lin, Hamed Jafar-Nejad, Robert S. Haltiwanger, Sidney H. Wang, Radbod Darabi
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 33, Iss , Pp 683-697 (2023)
Autosomal recessive limb-girdle muscular dystrophy 21 (LGMDR21) is caused by pathogenic variants in protein O-glucosyltransferase 1 (POGLUT1), which is responsible for O-glucosylation of specific epidermal growth factor (EGF) repeats found in ∼50 m
Externí odkaz:
https://doaj.org/article/890197d4a6154dcbb8fa3f4e093f2cfc
Autor:
Ernesto García-Roldán, Eloy Rivas-Infante, Manuel Medina-Rodríguez, José Enrique Arriola-Infante, Silvia Rodrigo-Herrero, Carmen Paradas, Alberto Rábano-Gutiérrez, Emilio Franco-Macías
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-4 (2023)
Abstract Background In frontotemporal dementia (FTD) spectrum, younger patients may correspond to fusopathy cases, and cognitive decline could be rapidly progressive. We present a clinical and neuropathological description of a patient. Case presenta
Externí odkaz:
https://doaj.org/article/826aa5bfd1c34a45a38e263586b7ae07
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:
Miriam Bobadilla Muñoz, Josune Orbe, Gloria Abizanda, Florencio J. D. Machado, Amaia Vilas, Asier Ullate-Agote, Leire Extramiana, Arantxa Baraibar Churio, Xabier L. Aranguren, Gloria Cantero, Neira Sáinz Amillo, José Antonio Rodríguez, Luis Ramos García, Juan Pablo Romero Riojas, Ainara Vallejo-Illarramendi, Carmen Paradas, Adolfo López de Munain, José Antonio Páramo, Felipe Prósper, Ana Pérez-Ruiz
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Aged muscles accumulate satellite cells with a striking decline response to damage. Although intrinsic defects in satellite cells themselves are the major contributors to aging-associated stem cell dysfunction, increasing evidence suggests that chang
Externí odkaz:
https://doaj.org/article/6f3b235d66ea48b0903667a7547e22f3
Autor:
Elena Cortés‐Vicente, Rodrigo Álvarez‐Velasco, Francesc Pla‐Junca, Ricard Rojas‐Garcia, Carmen Paradas, Teresa Sevilla, Carlos Casasnovas, María Teresa Gómez‐Caravaca, Julio Pardo, Alba Ramos‐Fransi, Ana Lara Pelayo‐Negro, Gerardo Gutiérrez‐Gutiérrez, Janina Turon‐Sans, Adolfo López de Munain, Antonio Guerrero‐Sola, Ivonne Jericó, María Asunción Martín, María Dolores Mendoza, Germán Morís, Beatriz Vélez‐Gómez, Tania Garcia‐Sobrino, Elba Pascual‐Goñi, David Reyes‐Leiva, Isabel Illa, Eduard Gallardo
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 2, Pp 122-131 (2022)
Abstract Objective To describe the clinical characteristics and outcomes in patients with refractory myasthenia gravis (MG) and to determine the effectiveness and side effects of the drugs used for their treatment. Methods This observational retrospe
Externí odkaz:
https://doaj.org/article/2b39a018049e4bdbb38862338fe7dbf0
Autor:
Cristina Domínguez-González, Marcos Madruga-Garrido, Michio Hirano, Itxaso Martí, Miguel A. Martín, Francina Munell, Andrés Nascimento, Montse Olivé, Joanne Quan, M. Dolores Sardina, Ramon Martí, Carmen Paradas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Abstract Background Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with mitochondrial disease typically
Externí odkaz:
https://doaj.org/article/bfe4ecffca224605a27d21dd60389172
Publikováno v:
BioTechniques, Vol 68, Iss 6, Pp 296-299 (2020)
Mutations in the human MYH7 gene, encoding a slow skeletal muscle/β-cardiac myosin heavy chain, cause different types of myopathies. The nematode model Caenorhabditis elegans has frequently been employed to study the molecular and physiological cons
Externí odkaz:
https://doaj.org/article/af93440b24fc46eab2bfa9c938faeab5
Autor:
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
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. This analysis aims to identify the
Externí odkaz:
https://doaj.org/article/0470816544d14c339d5608df7267ca17
Autor:
Fabiola Mavillard, Marcos Madruga‐Garrido, Eloy Rivas, Emilia Servián‐Morilla, Rainiero Ávila‐Polo, Irene Marcos, Francisco J. Morón, Carmen Paradas, Macarena Cabrera‐Serrano
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 11, Pp 2328-2333 (2019)
Abstract CAPN3 mutations cause a limb girdle muscular dystrophy. Functional characterization of novel mutations facilitates diagnosis of future cases. We have identified a novel (c.1992 + 2T>G) CAPN3 mutation that disrupts the donor splice site of in
Externí odkaz:
https://doaj.org/article/644b26b8e03641ecb606d9aa6a025696