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14 p, 8.0 MB |
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
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Reyngoudt, Harmen (NMR Laboratory) ;
Smith, Fiona Elizabeth (Newcastle University) ;
Caldas de A. Araújo, Ericky (NMR Laboratory) ;
Wilson, Ian (Newcastle University) ;
Fernandez-Torron, Roberto (Hospital de Donostia (Sant Sebastià, País Basc)) ;
James, Meredith K. (Newcastle University) ;
Moore, Ursula (Newcastle University) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Marty, Benjamin (NMR Laboratory) ;
Azzabou, Noura (NMR Laboratory) ;
Gordish-Dressman, Heather (George Washington University) ;
Rufibach, Laura E. (The JAIN Foundation) ;
Hodgson, Tim (Newcastle University) ;
Wallace, Dorothy (Newcastle University) ;
Ward, Louise (Newcastle University) ;
Boisserie, Jean Marc (NMR Laboratory) ;
Le Louër, Julien (NMR Laboratory) ;
Hilsden, Heather (Newcastle University) ;
Sutherland, Helen (Newcastle University) ;
Canal, Aurélie (Institute of Myology) ;
Hogrel, J.Y (Institut de Myologie (París, França)) ;
Jacobs, Marni (George Washington University) ;
Stojkovic, Tanya (Institut deMyologie (París, França)) ;
Bushby, Kate (Newcastle University) ;
Mayhew, Anna G. (Newcastle University) ;
Straub, Volker (Newcastle University) ;
Carlier, Pierre G. (University Paris-Saclay) ;
Blamire, Andrew (Newcastle University) ;
Universitat Autònoma de Barcelona
Natural history studies in neuromuscular disorders are vital to understand the disease evolution and to find sensitive outcome measures. We performed a longitudinal assessment of quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (P MRS) outcome measures and evaluated their relationship with function in lower limb skeletal muscle of dysferlinopathy patients. [...]
2022 -  10.1002/jcsm.12987
Journal of Cachexia, Sarcopenia and Muscle, Vol. 13 Núm. 3 (june 2022) , p. 1850-1863
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2.
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10 p, 1.7 MB |
Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy : A Rasch Analysis Approach
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Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
James, Meredith K. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Sutherland, Helen (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Jacobs, Marni (Pediatrics. Epidemiology and Biostatistics. George Washington University) ;
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ;
Lowes, Linda Pax (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Alfano, Lindsay N. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Muni Lofra, Robert (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Rufibach, Laura E. (The Jain Foundation) ;
Rose, Kristy (The Children's Hospital at Westmead. The University of Sydney) ;
Duong, Tina (Lucile Salter Packard Children's Hospital at Stanford. Neurology) ;
Bello, Luca (Department of Neuroscience. University of Padova) ;
Pedrosa-Hernández, Irene (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Holsten, S. (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Sakamoto, C. (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry Tokyo) ;
Canal, Aurélie (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Sánchez-Aguilera Práxedes, N. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Thiele, S. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians-University of Munich) ;
Siener, C. (Department of Neurology. Washington University School of Medicine) ;
Vandevelde, B. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
DeWolf, Brittney (Cooperative International Neuromuscular Research Group. Children's National Health System) ;
Maron, E. (ELAN-PHYSIO. Praxis für Physiotherapie Maron) ;
Gordish-Dressman, H. (Pediatrics. Epidemiology and Biostatistics. George Washington University) ;
Hilsden, H. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Guglieri, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Hogrel, J.Y. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Blamire, Andrew (Magnetic Resonance Centre. Institute for Cellular Medicine. Newcastle University) ;
Carlier, Pierre G. (Pitié-Salpêtrière University Hospital) ;
Spuler, S. (Charite Muscle Research Unit. Experimental and Clinical Research Center. A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Day, John W. (Stanford University School of Medicine) ;
Jones, K.J. (The Children's Hospital at Westmead. The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, E. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
Pestronk, Alan (Washington University School of Medicine) ;
Walter, M.C. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians-University of Munich) ;
Paradas, C. (Instituto de Biomedicina de Sevilla) ;
Stojkovic, T. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Pegoraro, Elena (University of Padova) ;
Mendell, J. R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Jain COS Consortium, None (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Straub, V. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
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. [...]
2022 - 10.3389/fneur.2022.828525
Frontiers in neurology, Vol. 13 (october 2022) , p. 828525
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3.
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12 p, 545.3 KB |
E-Health Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress : Nice, France, March 22-23, 2019
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Pini, J. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ;
Siciliano, G. (Neurological Clinic. Department of Clinical and Experimental Medicine. Ospedale Santa Chiara. University of Pisa) ;
Lahaut, P. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ;
Braun, S. (AFM Telethon) ;
Segovia-Kueny, S. (AFM Telethon) ;
Kole, A. (Public Health Policy Director Rare 2030 Lead EURORDIS) ;
Hérnando, I. (Healthcare Director EURORDIS) ;
Selb, J. (University Clinic Golnik. Golnik. Slovenia -Medical Consultant Parsek) ;
Schirinzi, E. (Neurological Clinic. Department of Clinical and Experimental Medicine. Ospedale Santa Chiara. University of Pisa) ;
Duong, T. (Department of Neurology Stanford University) ;
Hogrel, J.Y. (Institut de Myologie (París, França)) ;
Olmedo, J.J.S. (Escuela Técnica Superior de Ingenieros de Telecomunicación) ;
Vissing, J. (Copenhagen Neuromuscular Center. Rigshospitalet. University of Copenhagen) ;
Servais, L. (Division of Child Neurology Reference Center for Neuromuscular Disease. Centre Hospitalier Régional de Références des Maladies Neuromusculaires. Department of Paediatrics. University Oxford) ;
Vincent-Genod, D. (L'Escale. Pediatric Rehabilitation Department. Hospices Civils de Lyon) ;
Vuillerot, C. (Neuron Interaction Team. NeuroMyogène Institute. Lyon University) ;
Bannwarth, S. (Institute for Research on Cancer and Aging of Nice (IRCAN). Faculty of Medicine. Université Côte d'Azur (UCA)) ;
Eggenspieler, D. (Healthcare Program Director. Sysnav) ;
Vicart, S. (Channelopahies Reference Center. Service of Neuro-Myology. University Hospital Pitié-Salpêtrière. Assistance Publique-Hôpitaux de Paris) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Lochmüller, H. (Centre de Regulació Genòmica) ;
Sacconi, S. (Fédération Hospitalo-Universitaire Oncoage. Centre Hospitalier Universitaire de Nice. Université Côte d'Azur (UCA)) ;
Cavalli, M. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ;
Puma, A. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ;
Villa, L. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ;
Andr, E. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD)
By definition, neuromuscular diseases are rare and fluctuating in terms of symptoms; patients are often lately diagnosed, do not have enough information to understand their condition and be proactive in their management. [...]
2021 - 10.3233/JND-210655
Journal of Neuromuscular Diseases, Vol. 8 Núm. 4 (2021) , p. 743-754
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4.
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12 p, 2.7 MB |
Assessing Dysferlinopathy Patients Over Three Years With a New Motor Scale
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Jacobs, M.B. (Pediatrics. Epidemiology. and Biostatistics. George Washington University) ;
James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Alfano, Lindsay N (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Eagle, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Muni Lofra, R. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Moore, U. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Feng, J. (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ;
Rufibach, L.E. (The Jain Foundation) ;
Rose, K. (The Children's Hospital at Westmead. The University of Sydney) ;
Duong, T. (Lucile Salter Packard Children's Hospital at Stanford) ;
Bello, Luca (Department of Neuroscience. University of Padova) ;
Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Holsten, Scott (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Sakamoto, C. (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry) ;
Canal, Aurélie (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Sanchez-Aguilera Práxedes, N. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Thiele, S. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich) ;
Siener, C. (Department of Neurology Washington University School of Medicine) ;
Vandevelde, B. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
DeWolf, Brittney (Cooperative International Neuromuscular Research Group (CINRG). Children's National Health System) ;
Maron, E. (ELAN-PHYSIO. Praxis für Physiotherapie Maron) ;
Guglieri, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Hogrel, J.Y. (Institut de Myologie (París, França)) ;
Blamire, Andrew (Magnetic Resonance Centre. Institute for Cellular Medicine. Newcastle University) ;
Carlier, Pierre G (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital) ;
Spuler, S. (Charite Muscle Research Unit. Experimental and Clinical Research Center. a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ;
Day, John W (Department of Neurology and Neurological Sciences. Stanford University School of Medicine) ;
Jones, K.J. (The Children's Hospital at Westmead. The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, E. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ;
Pestronk, Alan (Washington University School of Medicine) ;
Walter, Maggie C (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians University of Munich) ;
Paradas, C. (Instituto de Biomedicina de Sevilla) ;
Stojkovic, T. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ;
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Pegoraro, Elena (University of Padova) ;
Mendell, J. R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Mayhew, A.G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway) ;
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust. Central Parkway)
Objective: Dysferlinopathy is a muscular dystrophy with a highly variable clinical presentation and currently unpredictable progression. This variability and unpredictability presents difficulties for prognostication and clinical trial design. [...]
2021 - 10.1002/ana.26044
Annals of neurology, Vol. 89 Núm. 5 (may 2021) , p. 967-978
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5.
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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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