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10 p, 585.1 KB |
Water T2 could predict functional decline in patients with dysferlinopathy
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Moore, Ursula. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Caldas de A. Araújo, Ericky (NMR Laboratory. CEA/DRF/IBFJ/MIRCen) ;
Reyngoudt, Harmen (NMR Laboratory. CEA/DRF/IBFJ/MIRCen) ;
Gordish-Dressman, Heather (Pediatrics. Epidemiology and Biostatistics. George Washington University) ;
Smith, Fiona E. (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ;
Wilson, Ian (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ;
James, Meredith (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mayhew, Anna (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Rufibach, Laura (Jain Foundation) ;
Day, John W. (Department of Neurology and Neurological Sciences. Stanford University School of Medicine) ;
Jones, Kristi J. (The Children's Hospital at Westmead and The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, Emmanuelle (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, Carmen (Instituto de Biomedicina de Sevilla) ;
Stojkovic, Tanya (Centre de référence des maladies neuromusculaires. Institut de Myologie. AP-HP. Sorbonne Université. Hôpital Pitié-Salpêtrière) ;
Mori-Yoshimura, Madoka (Department of Neurology. National Center Hospital. National Center of Neurology and Psychiatry) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Pegoraro, Elena (Department of Neuroscience. University of Padova) ;
Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Blamire, Andrew (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ;
Straub, Volker (Newcastle University) ;
Carlier, Pierre G. (Université Paris-Saclay. CEA. DRF. Service Hospitalier Frederic Joliot) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Background: Water T2 (T2) mapping is increasingly being used in muscular dystrophies to assess active muscle damage. It has been suggested as a surrogate outcome measure for clinical trials. Here, we investigated the prognostic utility of T2 to identify changes in muscle function over time in limb girdle muscular dystrophies. [...]
2022 -  10.1002/jcsm.13063
Journal of Cachexia, Sarcopenia and Muscle, Vol. 13 Núm. 6 (december 2022) , p. 2888-2897
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16 p, 4.6 MB |
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease
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Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Gordish-Dressman, Heather (George Washington University) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
James, Meredith K. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Guglieri, Michela (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Fernandez-Torron, Roberto (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) ;
Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ;
Blamire, Andrew (Magnetic Resonance Centre. Translational and Clinical Research Institute. Newcastle University) ;
Carlier, Pierre G. (AIM & CEA NMR Laboratory. Institute of Myology. Pitié-Salpêtrière University Hospital) ;
Spuler, Simone (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, Kristi J. (The Children's Hospital at Westmead. and The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, Emmanuelle (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, Carmen (Instituto de Biomedicina de Sevilla) ;
Stojkovic, Tanya (Sorbonne Université) ;
Mori-Yoshimura, Madoka (Department of Neurology. National Center Hospital. National Center of Neurology and Psychiatry) ;
Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ;
Pegoraro, Elena (University of Padova) ;
Lowes, Linda P (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
This study aims to determine clinically relevant phenotypic differences between the two most common phenotypic classifications in dysferlinopathy, limb girdle muscular dystrophy R2 (LGMDR2) and Miyoshi myopathy (MMD1). [...]
2021 - 10.1016/j.nmd.2021.01.009
Neuromuscular Disorders, Vol. 31 Núm. 4 (april 2021) , p. 265-280
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9 p, 1.7 MB |
Intensive Teenage Activity Is Associated With Greater Muscle Hyperintensity on T1W Magnetic Resonance Imaging in Adults With Dysferlinopathy
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Moore, Ursula (Newcastle University) ;
Jacobs, Marni (George Washington University) ;
Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
LLauger Rossello, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Smith, Fiona E. (Newcastle University) ;
James, Meredith K (Newcastle University) ;
Mayhew, Anna (Newcastle University) ;
Rufibach, Laura (Jain Foundation) ;
Carlier, Pierre G. (Université Paris-Saclay) ;
Blamire, Andrew (Newcastle University) ;
Day, John W. (Stanford University) ;
Jones, Kristi J. (The University of Sydney) ;
Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ;
Salort-Campana, Emmanuelle (Hôpital de La Timone) ;
Pestronk, Alan (Washington University) ;
Walter, Maggie C. (Ludwig-Maximilians-University of Munich) ;
Paradas, Carmen (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Stojkovic, Tanya (Sorbonne Université) ;
Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ;
Bravver, Elena (Carolinas Neuromuscular/ALS-MDA Center) ;
Pegoraro, Elena (University of Padova) ;
Mendell, Jerry R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ;
Bushby, Kate (Newcastle University) ;
Straub, Volker (Newcastle University) ;
Diaz-Manera, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Universitat Autònoma de Barcelona
Practice of sports during childhood or adolescence correlates with an earlier onset and more rapidly progressing phenotype in dysferlinopathies. To determine if this correlation relates to greater muscle pathology that persists into adulthood, we investigated the effect of exercise on the degree of muscle fatty replacement measured using muscle MRI. [...]
2020 - 10.3389/fneur.2020.613446
Frontiers in neurology, Vol. 11 (december 2020)
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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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