Resultados globales: 2 registros encontrados en 0.02 segundos.
Artículos, Encontrados 2 registros
Artículos Encontrados 2 registros  
1.
11 p, 3.9 MB Muscle MRI in patients with dysferlinopathy : pattern recognition and implications for clinical trials / Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Fernandez-Torron, Roberto (MRC Centre for Neuromuscular Diseases) ; LLauger, Jaume (Institut d'Investigació Biomèdica Sant Pau) ; James, Meredith K (MRC Centre for Neuromuscular Diseases) ; Mayhew, Anna (MRC Centre for Neuromuscular Diseases) ; Smith, Fiona E (Newcastle University) ; Moore, Ursula R (MRC Centre for Neuromuscular Diseases) ; Blamire, Andrew M (Newcastle University) ; Carlier, Pierre G (Pitié-Salpêtrière University Hospital) ; Rufibach, Laura (The Jain Foundation) ; Mittal, Plavi (The Jain Foundation) ; Eagle, Michelle (MRC Centre for Neuromuscular Diseases) ; Jacobs, Marni (George Washington University) ; Hodgson, Tim (Newcastle University) ; Wallace, Dorothy (Newcastle University) ; Ward, Louise (Newcastle University) ; Smith, Mark (Nationwide Children's Hospital) ; Stramare, Roberto (University of Padova) ; Rampado, Alessandro (University of Padova) ; Sato, Noriko (National Center Hospital, National Center of Neurology and Psychiatry) ; Tamaru, Takeshi (National Center Hospital, National Center of Neurology and Psychiatry) ; Harwick, Bruce (CMC Mercy Charlotte, Carolinas Healthcare System Neurosciences Institute) ; Rico Gala, Susana (Hospital U. Virgen de Valme) ; Turk, Suna (Pitié-Salpêtrière University Hospital) ; Coppenrath, Eva M (Ludwig-Maximilians-University) ; Foster, Glenn (Washington University) ; Bendahan, David (Aix-Marseille Université) ; Le Fur, Yann (Aix-Marseille Université) ; Fricke, Stanley T (Children's National Health System) ; Otero, Hansel (Children's National Health System) ; Foster, Sheryl L (University of Sydney) ; Peduto, Anthony (University of Sydney) ; Sawyer, Anne Marie (Stanford University School of Medicine) ; Hilsden, Heather (MRC Centre for Neuromuscular Diseases) ; Lochmuller, Hanns (MRC Centre for Neuromuscular Diseases) ; Grieben, Ulrike (A Joint Co-operation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ; Spuler, Simone (A Joint Co-operation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ; Tesi Rocha, Carolina (Stanford University School of Medicine) ; Day, John W (Stanford University School of Medicine) ; Jones, Kristi J (Children's Hospital at Westmead, University of Sydney) ; Bharucha-Goebel, Diana X (National Institutes of Health (NINDS)) ; Salort-Campana, Emmanuelle (La Timone Hospital, Aix-Marseille Université) ; Harms, Matthew (Washington University School of Medicine) ; Pestronk, Alan (Washington University School of Medicine) ; Krause, Sabine (Ludwig-Maximilians-University of Munich) ; Schreiber-Katz, Olivia (Ludwig-Maximilians-University of Munich) ; Walter, Maggie C (Ludwig-Maximilians-University of Munich) ; Paradas, Carmen (Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla) ; Hogrel, Jean-Yves (AP-HP, G.H. Pitié-Salpêtrière) ; Stojkovic, Tanya (AP-HP, G.H. Pitié-Salpêtrière) ; Takeda, Shin'ichi (National Center Hospital, National Center of Neurology and Psychiatry) ; Mori-Yoshimura, Madoka (National Center Hospital, National Center of Neurology and Psychiatry) ; Bravver, Elena (Carolinas Healthcare System) ; Sparks, Susan (Carolinas Healthcare System) ; Bello, Luca (University of Padova) ; Semplicini, Claudio (University of Padova) ; Pegoraro, Elena (University of Padova) ; Mendell, Jerry R (Nationwide Children's Hospital) ; Bushby, Kate (MRC Centre for Neuromuscular Diseases) ; Straub, Volker (MRC Centre for Neuromuscular Diseases) ; Universitat Autònoma de Barcelona
Dysferlinopathies are a group of muscle disorders caused by mutations in the DYSF gene. Previous muscle imaging studies describe a selective pattern of muscle involvement in smaller patient cohorts, but a large imaging study across the entire spectrum of the dysferlinopathies had not been performed and previous imaging findings were not correlated with functional tests. [...]
2018 - 10.1136/jnnp-2017-317488
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 89 (may 2018) , p. 1071-1081  
2.
21 p, 4.8 MB A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss / Servián Morilla, Emilia (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Takeuchi, Hideyuki (The University of Georgia) ; Lee, Tom V. (Baylor College of Medicine) ; Clarimon, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Mavillard, Fabiola (Universidad de Sevilla) ; Area Gómez, Estela (Columbia University Medical Center) ; Rivas, Eloy (Universidad de Sevilla) ; Nieto González, José L. (Universidad de Sevilla) ; Rivero, María C. (Universidad de Sevilla) ; Cabrera Serrano, Macarena (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED)) ; Gómez Sánchez, Leonardo (Universidad de Sevilla) ; Martínez López, José A. (Universidad de Sevilla) ; Estrada, Beatriz (Universidad Pablo Olavide) ; Márquez, Celedonio (Universidad de Sevilla) ; Morgado, Yolanda (Hospital U. Valme) ; Suárez Calvet, Xavier (Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)) ; Pita, Guillermo (Centro Nacional de Investigaciones Oncológicas) ; Bigot, Anne (Sorbonne Universités) ; Gallardo Vigo, Eduard (Centro de Investigación Biomédica en Red sobre Enfermedades Raras (CIBERER)) ; Fernández Chacón, Rafael (Universidad de Sevilla) ; Hirano, Michio (Columbia University Medical Center) ; Haltiwanger, Robert S. (The University of Georgia) ; Jafar-Nejad, Hamed (Baylor College of Medicine) ; Paradas, Carmen (Columbia University Medical Center) ; Universitat Autònoma de Barcelona
Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limb-girdle muscular dystrophy, we identified a missense mutation in 1 (protein O -glucosyltransferase 1), an enzyme involved in Notch posttranslational modification and function. [...]
2016 - 10.15252/emmm.201505815
EMBO Molecular Medicine, Vol. 8, Issue 11 (November 2016) , p. 1289-1309  

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