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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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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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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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