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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 (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  
2.
14 p, 396.7 KB Assessment of disease progression in dysferlinopathy : A 1-year cohort study / 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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