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1.
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Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy
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Statland, J.M. (University of Kansas Medical Center) ;
Campbell, C. (University of Western Ontario) ;
Desai, U. (Carolinas MDA Care Center) ;
Karam, C. (Oregon Health & Science University) ;
Díaz-Manera, Jordi (Institut d'investigació Biomèdica Sant Pau) ;
Guptill, J.T. (Duke University School of Medicine) ;
Korngut, L. (University of Calgary) ;
Genge, A. (Montreal Neurological Institute) ;
Tawil, R.N. (University of Rochester School of Medicine) ;
Elman, L. (University of Pennsylvania) ;
Joyce, N.C. (University of California Davis Medical Center) ;
Wagner, K.R. (Kennedy Krieger Institute) ;
Manousakis, G. (University of Minnesota) ;
Amato, A.A. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ;
Butterfield, R.J. (University of Utah) ;
Shieh, P.B. (University of California Los Angeles) ;
Wicklund, M. (University of Colorado) ;
Gamez, Josep (Universitat Autònoma de Barcelona. Departament de Medicina) ;
Bodkin, C. (Indiana University School of Medicine) ;
Pestronk, A. (Washington University School of Medicine) ;
Weihl, C.C. (Washington University School of Medicine) ;
Vilchez-Padilla, J.J. (Hospital UIP La Fe. Neuromuscular Reference Centre) ;
Johnson, N.E. (Virginia Commonwealth University) ;
Mathews, K.D. (University of Iowa) ;
Miller, B. (Acceleron Pharma) ;
Leneus, A. (Acceleron Pharma) ;
Fowler, M. (Acceleron Pharma) ;
van de Rijn, M. (Acceleron Pharma) ;
Attie, K.M. (Acceleron Pharma)
Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy without approved therapies. In this study we evaluated whether locally acting ACE-083 could safely increase muscle volume and improve functional outcomes in adults with FSHD. [...]
2022 -  10.1002/mus.27558
Muscle & nerve, Vol. 66 Núm. 1 (july 2022) , p. 50-62
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2.
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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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3.
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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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12 p, 1.6 MB |
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis
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Suarez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ;
Carrasco-Rozas, Ana (Institut d'Investigació Biomèdica Sant Pau) ;
Fernández Simón, Esther (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Zamora, Carlos (Institut d'Investigació Biomèdica Sant Pau) ;
Martínez-Martínez, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Jiménez, Alicia (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Turón, Joana (Institut d'Investigació Biomèdica Sant Pau) ;
Querol, Luis (Institut d'Investigació Biomèdica Sant Pau) ;
de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau) ;
Milena-Millan, Ana (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Corominas, Hèctor (Institut d'Investigació Biomèdica Sant Pau) ;
Castillo, Diego (Institut d'Investigació Biomèdica Sant Pau) ;
Cortés-Vicente, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Illa, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
To describe the clinical, serologic and histologic features of a cohort of patients with brachio-cervical inflammatory myopathy (BCIM) associated with systemic sclerosis (SSc) and unravel disease-specific pathophysiologic mechanisms occurring in these patients. [...]
2020 - 10.1212/NXI.0000000000000694
Neurology® neuroimmunology & neuroinflammation, Vol. 7 Núm. 3 (june 2020) , p. e694
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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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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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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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10 p, 813.6 KB |
Rimeporide as a first- in-class NHE-1 inhibitor : Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy
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Previtali, Stefano C. (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ;
Gidaro, Teresa (Hopital Trousseau) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Zambon, Alberto (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ;
Carnesecchi, Stephanie (Geneva University (UNIGE)) ;
Roux-Lombard, Pascale (Geneva University Hospitals) ;
Spitali, Pietro (Leiden University Medical Center) ;
Signorelli, Mirko (Leiden University Medical Center) ;
Szigyarto, Cristina Al-Khalili (Kungl. Tekniska högskolan (Estocolm (Suècia)) ;
Johansson, Camilla (Science for Life Laboratory) ;
Gray, Julian (EspeRare) ;
Labolle, Delphine (EspeRare) ;
Porte Thomé, Florence (EspeRare) ;
Pitchforth, Jacqueline (UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital Dubowitz Neuromuscular Centre) ;
Domingos, Joana (UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital Dubowitz Neuromuscular Centre) ;
Muntoni, Francesco (University College London) ;
Universitat Autònoma de Barcelona
Rimeporide, a first-in-class sodium/proton exchanger Type 1 inhibitor (NHE-1 inhibitor) is repositioned by EspeRare for patients with Duchenne Muscular Dystrophy (DMD). Historically, NHE-1 inhibitors were developed for cardiac therapeutic interventions. [...]
2020 - 10.1016/j.phrs.2020.104999
Pharmacological Research, Vol. 159 (september 2020) , p. 104999
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13 p, 749.5 KB |
Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain
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Gonzalez-Quereda, L (Institut d'Investigació Biomèdica Sant Pau) ;
Rodriguez, Maria José (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Nascimento, A. (Institut de Recerca Sant Joan de Déu) ;
Ortez González, Carlos Ignacio (Institut de Recerca Sant Joan de Déu) ;
Natera-De Benito, D. (Institut de Recerca Sant Joan de Déu) ;
Olive, Montse (Hospital Universitari de Bellvitge) ;
Gonzalez-Mera, L. (Hospital de Viladecans) ;
de Munain, A.L. (UPV-EHU) ;
Zulaica, Miren (Instituto de Salud Carlos III) ;
Poza, J.J. (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Jerico, I. (Complejo Hospitalario de Navarra) ;
Torne, L. (Instituto de Investigación Sanitaria de Navarra) ;
Riera, Pau (Institut d'Investigació Biomèdica Sant Pau) ;
Milisenda, José César (Hospital Clínic i Provincial de Barcelona) ;
Sanchez, Aurora (Hospital Clínic i Provincial de Barcelona) ;
Garrabou, Gloria (Hospital Clínic i Provincial de Barcelona) ;
Llano, I. (Osakidetza Basque Health Service) ;
Madruga-Garrido, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
The term neuromuscular disorder (NMD) includes many genetic and acquired diseases and differential diagnosis can be challenging. Next-generation sequencing (NGS) is especially useful in this setting given the large number of possible candidate genes, the clinical, pathological, and genetic heterogeneity, the absence of an established genotype-phenotype correlation, and the exceptionally large size of some causative genes such as TTN, NEB and RYR1. [...]
2020 - 10.3390/genes11050539
Genes, Vol. 11 Núm. 5 (may 2020) , p. 539
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Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert
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Gutiérrez Gutiérrez, Gerardo (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Almendrote, Míriam (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Azriel, Sharona (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Bárcena LLona, Jose Eulalio (Hospital Universitario de Cruces (Barakaldo, País Basc)) ;
Cabezudo García, Pablo (Hospital Comarcal de La Línea de la Concepción) ;
Camacho Salas, Ana (Hospital 12 de Octubre (Madrid)) ;
Casanova Rodríguez, Carlos (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Cobo, Anna María (Hôpital Marin d'Hendaye APHP) ;
Díaz Guardiola, Patricia (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Fernandez-Torron, Roberto (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ;
García Pavía, Pablo (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Gómez Gallego, María (Universidad Católica San Antonio de Murcia) ;
Gutiérrez Martínez, Antonio José (Hospital Universitario Insular de Gran Canaria) ;
Jericó-Pascual, Ivonne (Complejo Hospitalario de Navarra) ;
Kapetanovic García, Solange (Hospital de Basurto (Bilbao, Biscaia)) ;
López de Munaín Arregui, Adolfo (Universidad del País Vasco) ;
Martorell, Loreto (Hospital Sant Joan de Déu (Manresa)) ;
Morís, Germán (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Moreno Zabaleta, Raúl (Hospital General Universitario Gregorio Marañón) ;
Muñoz-Blanco, José Luís (Hospital Universitario La Paz (Madrid)) ;
Olivar Roldán, Juana (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Pascual Pascual, Samuel Ignacio (Hospital Universitario La Paz (Madrid)) ;
Peinado Peinado, Rafael (Hospital Universitario La Paz (Madrid)) ;
Pérez, Helena (Hospital Universitario de Canarias (La Laguna)) ;
Poza Aldea, Juan José (Hospital de Donostia (Sant Sebastià, País Basc)) ;
Rabasa, María (Hospital Universitario de Fuenlabrada ( Madrid)) ;
Ramos, Alba (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Rosado-Bartolomé, Alfredo (Centro de Salud Mar Báltico) ;
Rubio, Miguel Ángel (Hospital del Mar (Barcelona, Catalunya)) ;
Urtizberea, Jean Andoni M. (Hôpital Marin d'Hendaye APHP) ;
Zapata-Wainberg, Gustavo (Hospital Universitario de la Princesa (Madrid)) ;
Gutiérrez-Rivas, Eduardo (Hospital 12 de Octubre (Madrid)) ;
Universitat Autònoma de Barcelona
La enfermedad de Steinert o distrofia miotónica tipo 1 (DM1), (OMIM 160900) es la miopatía más prevalente en el adulto. Es una enfermedad multisistémica con alteración de prácticamente todos los órganos y tejidos y una variabilidad fenotípica muy amplia, lo que implica que deba ser atendida por diferentes especialistas que dominen las alteraciones más importantes. [...]
2020 - 10.1016/j.nrl.2019.01.001
Neurología, Vol. 35 Núm. 3 (abril 2020) , p. 185-206
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