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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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11 p, 1.1 MB |
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
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Töpf, Ana (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Johnson, Katherine (Newcastle University) ;
Bates, Adam (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Phillips, Lauren (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Chao, Katherine R. (Broad Institute of MIT and Harvard) ;
England, Eleina M. (Broad Institute of MIT and Harvard) ;
Laricchia, KristenM. (Broad Institute of MIT and Harvard) ;
Mullen, Thomas (Broad Institute of MIT and Harvard) ;
Valkanas, Elise (Broad Institute of MIT and Harvard) ;
Xu, Liwen (Broad Institute of MIT and Harvard) ;
Bertoli, Marta (Newcastle upon Tyne NHS Foundation Trust) ;
Blain, Alison (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Casasús, Ana B. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Duff, Jennifer (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Mroczek, Magdalena (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Specht, Sabine (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Lek, Monkol (Yale University School of Medicine) ;
Ensini, Monica (Directorate E. Unit E2 Combatting Diseases) ;
MacArthur, Daniel G. (Murdoch Children's Research Institute) ;
Akay, Ela (Newcastle upon Tyne Hospitals NHS Foundation Trust) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Baets, Jonathan (University of Antwerp) ;
Barisic, Nina (Zagreb Medical School) ;
Bastian, Alexandra (University of Medicine and Pharmacy Carol Davila Bucharest) ;
Borell, Sabine (University of Freiburg) ;
Chamova, Teodora (Alexandrovska Medical University) ;
Claeys, Kristl (KU Leuven) ;
Colomer, Jaume (Hospital Sant Joan de Deu) ;
Coppens, Sandra (Université Libre de Bruxelles) ;
Deconinck, Nicolas (Hôpital Universitaire des Enfants Reine Fabiola (HUDERF)) ;
de Ridder, Willem (University of Antwerp) ;
Diaz-Manera, Jordi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Domínguez-González, C (Instituto de Investigación Hospital 12 de Octubre Centro de Actividades Ambulatorias) ;
Duncan, Alexis (Queen Elizabeth University Hospital) ;
Durmus, Hacer (Istanbul Faculty of Medicine) ;
Fahmy, Nagia A. (Ain Shams University (El Caire, Egipte)) ;
Farrugia, Maria Elena (Queen Elizabeth University Hospital) ;
Fernández-Torrón, Roberto (Instituto de Salud Carlos III) ;
Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Haberlova, Jana (Charles University) ;
von der Hagen, Maja (Technische Universitat Dresden) ;
Hahn, Andreas (Justus-Liebig-University Giessen) ;
Jakovčević, Antonia (School of Medicine Zagreb) ;
Jerico Pascual, Ivonne (Complejo Hospitalario de Navarra) ;
Kapetanovic, Solange (Hospital de Basurto (Bilbao, Biscaia)) ;
Kenina, Viktorija (Riga East University Hospital) ;
Kirschner, Janbernd (University of Freiburg) ;
Klein, Andrea (Inselspital Bern) ;
Kölbel, Heike (University of Duisburg) ;
Kostera-Pruszczyk, Anna (Medical University of Warsaw) ;
Kulshrestha, Richa (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Lähdetie, Jaana (University of Turku and Turku University Central Hospital) ;
Layegh, Mahsa (Tehran University of Medical Sciences) ;
Longman, Cheryl (Queen Elizabeth University Hospital) ;
López de Munain, Adolfo (University of the Basque Country UPV-EHU) ;
Loscher, Wolfgang (Medical University of Innsbruck) ;
Lusakowska, Anna (Medical University of Warsaw) ;
Maddison, Paul (Nottingham University Hospitals NHS Trust (Regne Unit)) ;
Magot, Armelle (Hôtel-Dieu. University Hospital) ;
Majumdar, Anirban (Bristol Children's Hospital) ;
Martí, Pilar (Instituto de Investigación Sanitaria La Fe) ;
Martínez Arroyo, Amaia (Hospital Galdakao) ;
Mazanec, Radim (Charles University) ;
Mercier, Ssandra (Hôtel-Dieu. University Hospital) ;
Mongini, Tiziana (University of Turin) ;
Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ;
Nascimento, Andrés (Hospital Sant Joan de Deu) ;
Nafissi, Shahriar (Tehran University of Medical Sciences) ;
Omidi, Shirin (Tehran University of Medical Sciences) ;
Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ;
Paquay, Stéphanie (Université de Louvain) ;
Pereon, Yann (Hôtel-Dieu. University Hospital) ;
Perić, Stojan (Clinical Center of Serbia) ;
Ponzalino, Valentina (University of Turin) ;
Rakočević Stojanović, Vidosava (Clinical Center of Serbia) ;
Remiche, Gauthier (Université Libre de Bruxelles) ;
Rodríguez Sainz, Aida (Hospital Galdakao) ;
Rudnik, Sabine (Medical University Innsbruck) ;
Sanchez Albisua, Iciar (University of Tübingen) ;
Santos, Manuela (Centro Hospitalar Universitário Porto) ;
Schara, Ulrike (University of Duisburg) ;
Shatillo, Andriy (Psychiatry and Narcology of NAMS of Ukraine) ;
Sertić, Jadranka (Zagreb Medical School) ;
Stephani, Ulrich (University Medical Center Schleswig-Holstein) ;
Strang-Karlsson, Sonja (Helsinki University Hospital) ;
Sznajer, Yves (Université de Louvain) ;
Tanev, Ani (Alexandrovska Medical University) ;
Tournev, Ivailo (New Bulgarian University) ;
Van den Bergh, Peter (Université de Louvain) ;
Van Parijs, Vinciane (Université de Louvain) ;
Vílchez, Juan (Instituto de Investigación Sanitaria La Fe) ;
Vill, Katharina (Dr. v. Hauner Children's Hospital) ;
Vissing, John (University of Copenhagen) ;
Wallgren-Pettersson, Carina (University of Helsinki) ;
Wanschitz, Julia (Medical University of Innsbruck) ;
Willis, Tracey (RJAH Orthopaedic Hospital NHS Foundation Trust) ;
Witting, Nanna (University of Copenhagen) ;
Zulaica, Miren (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Straub, Volker (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ;
Universitat Autònoma de Barcelona
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups of muscle disease patients and to better understand disease etiology. [...]
2020 - 10.1038/s41436-020-0840-3
Genetics in medicine, Vol. 22 Núm. 9 (january 2020) , p. 1478-1488
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3.
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10 p, 1.4 MB |
Cardiac and pulmonary findings in dysferlinopathy : A 3-year, longitudinal study
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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) ;
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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4.
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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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5.
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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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6.
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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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7.
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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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11 p, 1.0 MB |
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy
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Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Gonzalez-Quereda, L (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Bruno, Claudio (Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini) ;
Panicucci, Chiara (Center of Translational and Experimental Myology, IRCSS Istituto Giannina Gaslini) ;
Alavi, Afagh (Genetics Research Center, University of Social Welfare and Rehabilitation Sciences) ;
Nafissi, Shahriar (Department of Neurology, Neuromuscular Research Center, Shariati Hospital, Tehran University of Medical Sciences) ;
Nilipour, Yalda (Shahid Beheshti University of Medical Sciences) ;
Zanoteli, Edmar (Faculdade de Medicina da Universidade de São Paulo) ;
Isihi, Lucas Michielon de Augusto (Faculdade de Medicina da Universidade de São Paulo) ;
Melegh, Béla (University of Pecs) ;
Hadzsiev, Kinga (University of Pecs) ;
Muelas, Nuria (Instituto de Investigación Sanitaria La Fe) ;
Vílchez, Juan J. (Instituto de Investigación Sanitaria La Fe) ;
Dourado, Mario Emilio (Federal University of Rio Grande do Norte) ;
Kadem, Naz (University of Health Sciences, Antalya Research and Training Hospital) ;
Kutluk, Gultekin (University of Health Sciences, Antalya Research and Training Hospital) ;
Umair, Muhammad (University of Management and Technology (UMT)) ;
Younus, Muhammad (Peking University) ;
Pegorano, Elena (University of Padova) ;
Bello, Luca (University of Padova) ;
Crawford, Thomas O. (Johns Hopkins University) ;
Suárez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ;
Töpf, Ana (Newcastle University) ;
Guglieri, Michela (Newcastle University) ;
Marini-Bettolo, Chiara (Newcastle University and Newcastle Hospitals) ;
Gallano, Pia (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Straub, Volker (Newcastle University) ;
Diaz-Manera, Jordi (Newcastle University) ;
Universitat Autònoma de Barcelona
Sarcoglycanopathies include four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. [...]
2021 - 10.1093/brain/awab301
Brain, Vol. 145 (september 2021) , p. 596-606
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9.
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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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10.
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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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