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11 p, 3.9 MB |
Muscle MRI in patients with dysferlinopathy : pattern recognition and implications for clinical trials
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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 - 10.1136/jnnp-2017-317488
Journal of Neurology, Neurosurgery, and Psychiatry, Vol. 89 (may 2018) , p. 1071-1081
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14 p, 396.7 KB |
Assessment of disease progression in dysferlinopathy : A 1-year cohort study
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Moore, U. (Newcastle University) ;
Jacobs, Marni (George Washington University) ;
James, Meredith K (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Mayhew, Anna G. (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodolog) ;
Cnaan, Avital (GeorgeWashington University) ;
Eagle, Michelle (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Bettinson, Karen (Newcastle University) ;
Rufibach, Laura E. (Jain Foundation) ;
Lofra, Robert M. (Newcastle University) ;
Blamire, Andrew (Newcastle University) ;
Carlier, Pierre G. ;
Mittal, Plavi (Jain Foundation) ;
Lowes, Linda P. (The Ohio State University) ;
Alfano, Lindsay N (The Ohio State University) ;
Rose, Kristy (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney) ;
Duong, Tina (Lucile Salter Packard ChildrensHospital at Stanford) ;
Berry, Katherine M. (Research Institute at Nationwide Childrens Hospital. TheOhio State University) ;
Montiel Morillo, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Holsten, Scott (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Sanjak, Mohammed (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Ashida, Ai (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Sakamoto, Chikako (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Tateishi, Takayuki (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Yajima, Hiroyuki (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Canal, Aurélie (Institut deMyologie (París, França)) ;
Ollivier, Gwenn (Institut deMyologie (París, França)) ;
Decostre, Valerie (Institut deMyologie (París, França)) ;
Mendez, Juan Bosco (Instituto de Biomedicina de Sevilla) ;
Praxedes, Nieves S. A. (Neurophysiotherapy Department. Hospital Universitario Virgen del Rocacute;io) ;
Thiele, Simone (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Siener, Catherine (Department of Neurology. Washington University School of Medicine) ;
Shierbecker, Jeanine (Department of Neurology. Washington University School of Medicine) ;
Florence, Julaine M. (Cooperative International Neuromuscular Research Group. Department of Neurology) ;
Vandevelde, Bruno (Centre de Reference des Maladies Neuromusculaires PACA Racute;eunion Rhone Alpes. Hopital de la Timone. Aix-Marseille Universitacute;e) ;
DeWolf, Brittney (Cooperative International Neuromuscular Research Group. Department of Neurology) ;
Hutchence, Meghan (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney) ;
Gee, Richard (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Prügel, Juliana (ELAN-PHYSIO. Praxis fur Physiotherapie Maron) ;
Maron, Elke (ELAN-PHYSIO. Praxis fur Physiotherapie Maron) ;
Hilsden, Heather (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Lochmüller, Hanns (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Grieben, Ulrike (ChariteMuscle Research Unit. Experimental and Clinical Research Center. A joint cooperation of the Charitacute;e Medical Faculty) ;
Spuler, Simone (ChariteMuscle Research Unit. Experimental and Clinical Research Center. A joint cooperation of the Charitacute;e Medical Faculty) ;
Rocha, Carolina T. (Department of Neurology and Neurological Sciences. Stanford University School ofMedicine) ;
Day, John W. (Department of Neurology and Neurological Sciences. Stanford University School ofMedicine) ;
Jones, Kristi J. (Institute for Neuroscience andMuscle Research. ChildrensHospital atWestmead. University of Sydney) ;
Bharucha-Goebel, Diana (NIH) ;
Salort-Campana, Emmanuelle (Centre de Reference des Maladies Neuromusculaires PACA Racute;eunion Rhone Alpes. Hopital de la Timone. Aix-Marseille Universitacute;e) ;
Harms, Matthew (Department of Neurology. Washington University School of Medicine) ;
Pestronk, Alan (Department of Neurology. Washington University School of Medicine) ;
Krause, Sabine (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Schreiber-Katz, Olivia (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ;
Paradas, Carmen (Instituto de Biomedicina de Sevilla) ;
Hogrel, J.Y (Institut de Myologie (París, França)) ;
Stojkovic, Tanya (Institut deMyologie (París, França)) ;
Takeda, Shin'ichi (DepartmentofNeurology. NationalCenterHospital. National Center ofNeurology and Psychiatry) ;
Mori-Yoshimura, Madoka (DepartmentofNeurology. NationalCenterHospital. National Center ofNeurology and Psychiatry) ;
Bravver, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Sparks, Susan (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi. (Institut d'Investigació Biomèdica Sant Pau) ;
Bello, Luca (Institut d'Investigació Biomèdica Sant Pau) ;
Semplicini, Claudio (Institut d'Investigació Biomèdica Sant Pau) ;
Pegoraro, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Mendell, Jerry R. (The Ohio State University. Research Institute at Nationwide Childrens Hospital) ;
Bushby, Kate (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Straub, Volker (Newcastle University. John Walton Muscular Dystrophy Research Centre) ;
Universitat Autònoma de Barcelona
ObjectiveTo assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year. MethodsOne hundred ninety-three patients with dysferlinopathy were recruited to the Jain Foundation's International Clinical Outcome Study for Dysferlinopathy. [...]
2019 - 10.1212/WNL.0000000000006858
Neurology, Vol. 92 Núm. 5 (29 2019) , p. E461-E474
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