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13 p, 2.9 MB |
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, Urvi (Carolinas MDA Care Center) ;
Karam, C. (Oregon Health & Science University) ;
Diaz-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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16 p, 956.0 KB |
Vitamin D, a modulator of musculoskeletal health in chronic kidney disease
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Molina, Pablo (Universitat de València) ;
Carrero, Juan J. (Karolinska Institutet (Estocolm, Suècia)) ;
Bover, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Chauveau, Philippe (Centre Hospitalier Universitaire de Bordeaux et Aurad-Aquitaine) ;
Mazzaferro, Sandro (Sapienza University of Rome) ;
Ureña-Torres, Pablo (University of Paris Descartes) ;
Universitat Autònoma de Barcelona
The spectrum of activity of vitamin D goes beyond calcium and bone homeostasis, and growing evidence suggests that vitamin D contributes to maintain musculoskeletal health in healthy subjects as well as in patients with chronic kidney disease (CKD), who display the combination of bone metabolism disorder, muscle wasting, and weakness. [...]
2017 - 10.1002/jcsm.12218
Journal of Cachexia, Sarcopenia and Muscle, Vol. 8 Núm. 5 (october 2017) , p. 686-701
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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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4.
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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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12 p, 2.8 MB |
COVID-19 Vaccination In Autoimmune Diseases (COVAD) Study : Vaccine Safety In Idiopathic Inflammatory Myopathies
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Gil-Vila, Albert (Hospital Universitari Vall d'Hebron) ;
Naveen, R. (Sanjay Gandhi Postgraduate Institute of Medical Sciences) ;
Selva O'Callaghan, Albert (Hospital Universitari Vall d'Hebron) ;
Sen, Parikshit (Maulana Azad Medical College) ;
Nune, Arvind (Southport and Ormskirk Hospital NHS Trust) ;
Gaur, Prithvi Sanjeevkumar (Smt. Kashibai Navale Medical and General Hospital) ;
Gonzalez, Raquel Arànega (Hospital Clínic i Provincial de Barcelona) ;
Lilleker, James B. (Northern Care Alliance NHS Foundation Trust) ;
Joshi, Mrudula (Byramjee Jeejeebhoy Government Medical College and Sassoon General Hospitals) ;
Agarwal, Vishwesh (Mahatma Gandhi Mission Medical College) ;
Kardes, Sinan (Istanbul University) ;
Kim, Minchul (University of Illinois College of Medicine Peoria) ;
Day, Jessica (University of Melbourne) ;
Makol, Ashima (Mayo Clinic) ;
Milchert, Marcin (Pomeranian Medical University in Szczecin, ul Unii Lubelskiej 1) ;
Gheita, Tamer (Cairo University) ;
Salim, Babur (Fauji Foundation Hospital) ;
Velikova, Tsvetelina (Sofia University St. Kliment Ohridski) ;
Gracia-Ramos, Abraham Edgar (National Medical Center "La Raza") ;
Parodis, Ioannis (Örebro University) ;
Nikiphorou, Elena (King's College Hospital NHS Foundation Trust) ;
Tan, Ai Lyn (University of Leeds) ;
Chatterjee, Tulika (University of Illinois College of Medicine Peoria) ;
Cavagna, Lorenzo (Università degli studi di Pavia) ;
Saavedra, Miguel A. (Centro Médico Nacional La Raza) ;
Shinjo, Samuel Katsuyuki (Universidade de Sao Paulo) ;
Ziade, Nelly (Hotel-Dieu de France Hospital) ;
Knitza, Johannes (Universitätsklinikum Erlangen) ;
Kuwana, Masataka (Nippon Medical School Graduate School of Medicine) ;
Distler, Oliver (University Hospital Zurich (Suïssa)) ;
Chinoy, Hector (Salford Royal Hospital Northern Care Alliance NHS Foundation Trust) ;
Agarwal, Vikas (Sanjay Gandhi Postgraduate Institute of Medical Sciences) ;
Aggarwal, Rohit (University of Pittsburgh School of Medicine) ;
Gupta, Latika (The University of Manchester) ;
Universitat Autònoma de Barcelona
In this study we investigated COVID-19 vaccination-related adverse events (ADEs) 7 days postvaccination in patients with idiopathic inflammatory myopathies (IIMs) and other systemic autoimmune and inflammatory disorders (SAIDs). [...]
2022 - 10.1002/mus.27681
Muscle & nerve, july 2022
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12 p, 18.3 MB |
RhoA/ROCK2 signalling is enhanced by PDGF-AA in fibro-adipogenic progenitor cells : implications for Duchenne muscular dystrophy
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Fernández Simón, Esther (University of Newcastle) ;
Suarez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ;
Carrasco-Rozas, Ana (Institut d'Investigació Biomèdica Sant Pau) ;
Piñol-Jurado, Patricia (University of Newcastle) ;
López-Fernández, Susana (Institut d'Investigació Biomèdica Sant Pau) ;
Pons, Gemma (Institut d'Investigació Biomèdica Sant Pau) ;
Bech-Serra, Joan-Josep (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
De La Torre Gómez, Gisela Carolina (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ;
de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau) ;
Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi (University of Newcastle) ;
Universitat Autònoma de Barcelona
The lack of dystrophin expression in Duchenne muscular dystrophy (DMD) induces muscle fibre and replacement by fibro-adipose tissue. Although the role of some growth factors in the process of fibrogenesis has been studied, pathways activated by PDGF-AA have not been described so far. [...]
2022 - 10.1002/jcsm.12923
Journal of Cachexia, Sarcopenia and Muscle, Vol. 13 (february 2022) , p. 1373-1384
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33 p, 66.8 MB |
Motoneuron deafferentation and gliosis occur in association with neuromuscular regressive changes during ageing in mice
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Blasco, Alba (Institut de Recerca Biomèdica de Lleida) ;
Gras, Sílvia (Institut de Recerca Biomèdica de Lleida) ;
Mòdol Caballero, Guillem (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Tarabal, Olga (Institut de Recerca Biomèdica de Lleida) ;
Llagostera Casanovas, Anna (Institut de Recerca Biomèdica de Lleida) ;
Piedrafita Llorens, Lídia (Institut de Recerca Biomèdica de Lleida) ;
Barranco, Alejandro (Abbott Nutrition Research and Development) ;
Das, Tapas (Abbott Nutrition Research and Development) ;
Pereira, Suzette L. (Abbott Nutrition Research and Development) ;
Navarro, X. (Xavier) (Universitat Autònoma de Barcelona. Institut de Neurociències) ;
Rueda Cabrera, Ricardo (Abbott Nutrition Research and Development) ;
Esquerda, Josep E. (Institut de Recerca Biomèdica de Lleida) ;
Calderó, Jordi (Institut de Recerca Biomèdica de Lleida)
The cellular mechanisms underlying the age-associated loss of muscle mass and function (sarcopenia) are poorly understood, hampering the development of effective treatment strategies. Here, we performed a detailed characterization of age-related pathophysiological changes in the mouse neuromuscular system. [...]
2020 - 10.1002/jcsm.12599
Journal of Cachexia, Sarcopenia and Muscle, Vol. 11 (july 2020) , p. 1628-1660
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15 p, 2.5 MB |
Follow-up of late-onset Pompe disease patients with muscle magnetic resonance imaging reveals increase in fat replacement in skeletal muscles
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Nuñez Peralta, Claudia Alejandra (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ;
Llauger, Jaume (Institut d'Investigació Biomèdica Sant Pau) ;
Segovia, Sonia (Institut d'Investigació Biomèdica Sant Pau) ;
Montesinos, Paula (Philips Healthcare Iberia) ;
Belmonte Jimeno, Izaskun (Institut d'Investigació Biomèdica Sant Pau) ;
Pedrosa, Irene (Institut d'Investigació Biomèdica Sant Pau) ;
Montiel Morillo, Elena (Institut d'Investigació Biomèdica Sant Pau) ;
Alonso-Jiménez, Alicia (Institut d'Investigació Biomèdica Sant Pau) ;
Sánchez-González, Javier (Philips Healthcare Iberia) ;
Martínez-Noguera, Antonio (Institut d'Investigació Biomèdica Sant Pau) ;
Illa, Isabel (Institut d'Investigació Biomèdica Sant Pau) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Universitat Autònoma de Barcelona
Late-onset Pompe disease (LOPD) is a genetic disorder characterized by progressive degeneration of the skeletal muscles produced by a deficiency of the enzyme acid alpha-glucosidase. Enzymatic replacement therapy with recombinant human alpha-glucosidase seems to reduce the progression of the disease; although at the moment, it is not completely clear to what extent. [...]
2020 - 10.1002/jcsm.12555
Journal of Cachexia, Sarcopenia and Muscle, Vol. 11 (march 2020) , p. 1032-1046
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