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1.
10 p, 1.4 MB Cardiac and pulmonary findings in dysferlinopathy : A 3-year, longitudinal study / Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Jacobs, Marni (Pediatrics. Epidemiology and Biostatistics. George Washington University) ; Gordish-Dressman, Heather (Pediatrics. Epidemiology and Biostatistics. 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) ; Harris, Elizabeth (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Guglieri, Michela (Newcastle University) ; 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 (Translational and Clinical Research Institute. Newcastle University) ; Carlier, Pierre G. (University Paris-Saclay. CEA. DRF. Service Hospitalier Frederic Joliot) ; 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 (National Center of Neurology and Psychiatry Tokyo) ; Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Pegoraro, Elena (Department of Neuroscience. University of Padova) ; Lowes, Linda Pax (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Mendell, Jerery 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) ; Bourke, John (Department of Cardiology. Freeman Hospital. NUTH NHS Hospitals Foundation Trust) ; Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Introduction/Aims: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype. [...]
2022 - 10.1002/mus.27524
Muscle & nerve, Vol. 65 Núm. 5 (may 2022) , p. 531-540  
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2.
10 p, 1.7 MB Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy : A Rasch Analysis Approach / 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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2 Lowes, Linda P
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