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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 (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 Universitario Virgen de Valme (Sevilla, Andalusia)) ; 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 (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; 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 Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Hogrel, J.Y (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 - DOI (Digital Object Identifier)

10.1136/jnnp-2017-317488
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 89 (may 2018) , p. 1071-1081

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