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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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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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10 p, 1.2 MB |
Correlation Between Respiratory Accessory Muscles and Diaphragm Pillars MRI and Pulmonary Function Test in Late-Onset Pompe Disease Patients
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Reyes-Leiva, David (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Mayos, Mercedes (Institut d'Investigació Biomèdica Sant Pau) ;
Nuñez Peralta, Claudia Alejandra (Institut d'Investigació Biomèdica Sant Pau) ;
Llauger, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Belmonte Jimeno, Izaskun (Institut d'Investigació Biomèdica Sant Pau) ;
Pedrosa-Hernández, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Segovia, Sonia (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Objectives: Pompe disease is a rare genetic disease produced by mutations in the GAA gene leading to progressive skeletal and respiratory muscle weakness. T1-weighted magnetic resonance imaging is useful to identify fatty replacement in skeletal muscles of late-onset Pompe disease (LOPD) patients. [...]
2021 - 10.3389/fneur.2021.621257
Frontiers in neurology, Vol. 12 (march 2021)
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11 p, 466.8 KB |
Identification of serum microRNAs as potential biomarkers in Pompe disease
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Carrasco-Rozas, Ana (Institut d'Investigació Biomèdica Sant Pau) ;
Fernández Simón, Esther (Institut d'Investigació Biomèdica Sant Pau) ;
Lleixà, Cinta (Institut d'Investigació Biomèdica Sant Pau) ;
Belmonte Jimeno, Izaskun (Institut d'Investigació Biomèdica Sant Pau) ;
Pedrosa-Hernandez, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Montiel Morillo, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Nuñez Peralta, Claudia Alejandra (Institut d'Investigació Biomèdica Sant Pau) ;
Llauger Rossello, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Segovia, Sonia (Institut d'Investigació Biomèdica Sant Pau) ;
de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau) ;
Suarez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ;
Illa, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
To analyze the microRNA profile in serum of patients with Adult Onset Pompe disease (AOPD). We analyzed the expression of 185 microRNAs in serum of 15 AOPD patients and five controls using microRNA PCR Panels. [...]
2019 - 10.1002/acn3.50800
Annals of Clinical and Translational Neurology, Vol. 6 (june 2019) , p. 1214-1224
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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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