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1.
Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy / Reyngoudt, Harmen (NMR Laboratory) ; Smith, Fiona Elizabeth (Newcastle University) ; Caldas de A. Araújo, Ericky (NMR Laboratory) ; Wilson, Ian (Newcastle University) ; Fernandez-Torron, Roberto (Hospital Universitario de Donostia) ; 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  
2.
11 p, 1.1 MB Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness / Töpf, A. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Johnson, K. (Newcastle University) ; Bates, A. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Phillips, L. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Chao, K.R. (Broad Institute of MIT and Harvard) ; England, E.M. (Broad Institute of MIT and Harvard) ; Laricchia, K.M. (Broad Institute of MIT and Harvard) ; Mullen, T. (Broad Institute of MIT and Harvard) ; Valkanas, E. (Broad Institute of MIT and Harvard) ; Xu, L. (Broad Institute of MIT and Harvard) ; Bertoli, M. (Newcastle upon Tyne NHS Foundation Trust) ; Blain, A. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Casasús, A.B. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Duff, J. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Mroczek, M. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Specht, S. (Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Lek, M. (Yale University School of Medicine) ; Ensini, M. (Directorate E. Unit E2 Combatting Diseases) ; MacArthur, D.G. (Murdoch Children's Research Institute) ; Akay, E. (Newcastle upon Tyne Hospitals NHS Foundation Trust) ; Alonso-Pérez, Jorge (Institut d'Investigació Biomèdica Sant Pau) ; Baets, J. (University of Antwerp) ; Barisic, N. (Zagreb Medical School) ; Bastian, A. (University of Medicine and Pharmacy Carol Davila Bucharest) ; Borell, S. (University of Freiburg) ; Chamova, T. (Alexandrovska Medical University) ; Claeys, K. (KU Leuven) ; Colomer, J. (Hospital Sant Joan de Deu) ; Coppens, S. (Université Libre de Bruxelles) ; Deconinck, N. (Hôpital Universitaire des Enfants Reine Fabiola (HUDERF)) ; de Ridder, W. (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, A. (Queen Elizabeth University Hospital) ; Durmus, H. (Istanbul Faculty of Medicine) ; Fahmy, N.A. (Ain Shams University (El Caire, Egipte)) ; Farrugia, M.E. (Queen Elizabeth University Hospital) ; Fernández-Torrón, R. (Instituto de Salud Carlos III) ; Gonzalez-Quereda, L. (Institut d'Investigació Biomèdica Sant Pau) ; Haberlova, J. (Charles University) ; von der Hagen, M. (Technische Universitat Dresden) ; Hahn, A. (Justus-Liebig-University Giessen) ; Jakovčević, A. (School of Medicine Zagreb) ; Jerico Pascual, I. (Complejo Hospitalario de Navarra) ; Kapetanovic, S. (Hospital de Basurto (Bilbao, Biscaia)) ; Kenina, V. (Riga East University Hospital) ; Kirschner, J. (University of Freiburg) ; Klein, A. (Inselspital Bern) ; Kölbel, H. (University of Duisburg) ; Kostera-Pruszczyk, A. (Medical University of Warsaw) ; Kulshrestha, R. (RJAH Orthopaedic Hospital NHS Foundation Trust) ; Lähdetie, J. (University of Turku and Turku University Central Hospital) ; Layegh, M. (Tehran University of Medical Sciences) ; Longman, C. (Queen Elizabeth University Hospital) ; López de Munain, A. (University of the Basque Country UPV-EHU) ; Loscher, W. (Medical University of Innsbruck) ; Lusakowska, A. (Medical University of Warsaw) ; Maddison, P. (Nottingham University Hospitals NHS Trust (Regne Unit)) ; Magot, A. (Hôtel-Dieu. University Hospital) ; Majumdar, A. (Bristol Children's Hospital) ; Martí, P. (Instituto de Investigación Sanitaria La Fe) ; Martínez Arroyo, A. (Hospital Galdakao) ; Mazanec, R. (Charles University) ; Mercier, S. (Hôtel-Dieu. University Hospital) ; Mongini, T. (University of Turin) ; Muelas, N. (Instituto de Investigación Sanitaria La Fe) ; Nascimento, A. (Hospital Sant Joan de Deu) ; Nafissi, S. (Tehran University of Medical Sciences) ; Omidi, S. (Tehran University of Medical Sciences) ; Ortez González, Carlos Ignacio (Hospital Sant Joan de Déu (Barcelona, Catalunya)) ; Paquay, S. (Université de Louvain) ; Pereon, Y. (Hôtel-Dieu. University Hospital) ; Perić, S. (Clinical Center of Serbia) ; Ponzalino, V. (University of Turin) ; Rakočević Stojanović, V. (Clinical Center of Serbia) ; Remiche, G. (Université Libre de Bruxelles) ; Rodríguez Sainz, A. (Hospital Galdakao) ; Rudnik, S. (Medical University Innsbruck) ; Sanchez Albisua, I. (University of Tübingen) ; Santos, M. (Centro Hospitalar Universitário Porto) ; Schara, U. (University of Duisburg) ; Shatillo, A. (Psychiatry and Narcology of NAMS of Ukraine) ; Sertić, J. (Zagreb Medical School) ; Stephani, U. (University Medical Center Schleswig-Holstein) ; Strang-Karlsson, S. (Helsinki University Hospital) ; Sznajer, Y. (Université de Louvain) ; Tanev, A. (Alexandrovska Medical University) ; Tournev, I. (New Bulgarian University) ; Van den Bergh, P. (Université de Louvain) ; Van Parijs, V. (Université de Louvain) ; Vílchez, J. (Instituto de Investigación Sanitaria La Fe) ; Vill, K. (Dr. v. Hauner Children's Hospital) ; Vissing, J. (University of Copenhagen) ; Wallgren-Pettersson, C. (University of Helsinki) ; Wanschitz, J. (Medical University of Innsbruck) ; Willis, T. (RJAH Orthopaedic Hospital NHS Foundation Trust) ; Witting, N. (University of Copenhagen) ; Zulaica, Miren (Hospital de Donostia (Sant Sebastià, País Basc)) ; Straub, V. (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  
3.
12 p, 1.6 MB Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis / 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  
4.
10 p, 1.4 MB Cardiac and pulmonary findings in dysferlinopathy : A 3-year, longitudinal study / Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Fernandez-Torron, Roberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ; Jacobs, Marni (Pediatrics. Epidemiology and Biostatistics. George Washington University) ; Gordish-Dressman, Heather (Pediatrics. Epidemiology and Biostatistics. George Washington University) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; James, Meredith K (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Harris, Elizabeth (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Guglieri, Michela (Newcastle University) ; Rufibach, Laura E. (The Jain Foundation) ; Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ; Blamire, Andrew (Translational and Clinical Research Institute. Newcastle University) ; Carlier, Pierre G. (University Paris-Saclay. CEA. DRF. Service Hospitalier Frederic Joliot) ; Spuler, Simone (Charite Muscle Research Unit. Experimental and Clinical Research Center. a joint cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ; Day, John W (Stanford University School of Medicine) ; Jones, Kristi J. (The Children's Hospital at Westmead. and The University of Sydney) ; Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Salort-Campana, Emmanuelle (Service des maladies neuromusculaire et de la SLA. Hôpital de La Timone) ; Pestronk, Alan (Washington University School of Medicine) ; Walter, Maggie C. (Friedrich-Baur-Institute. Department of Neurology. Ludwig-Maximilians-University of Munich) ; Paradas, Carmen (Instituto de Biomedicina de Sevilla) ; Stojkovic, Tanya (Sorbonne Université) ; Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ; Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Pegoraro, Elena (Department of Neuroscience. University of Padova) ; Lowes, Linda Pax (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Mendell, Jerery R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Bushby, Kate (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Bourke, John (Department of Cardiology. Freeman Hospital. NUTH NHS Hospitals Foundation Trust) ; Straub, Volker (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Introduction/Aims: There is debate about whether and to what extent either respiratory or cardiac dysfunction occurs in patients with dysferlinopathy. This study aimed to establish definitively whether dysfunction in either system is part of the dysferlinopathy phenotype. [...]
2022 - 10.1002/mus.27524
Muscle & nerve, Vol. 65 Núm. 5 (may 2022) , p. 531-540  
5.
10 p, 585.1 KB Water T2 could predict functional decline in patients with dysferlinopathy / 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  
6.
10 p, 1.7 MB Assessing the Relationship of Patient Reported Outcome Measures With Functional Status in Dysferlinopathy : A Rasch Analysis Approach / Mayhew, Anna G. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; James, Meredith K. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Moore, Ursula (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Sutherland, Helen (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Jacobs, Marni (Pediatrics. Epidemiology and Biostatistics. George Washington University) ; Feng, Jia (Center for Translational Science. Division of Biostatistics and Study Methodology. Children's National Health System) ; Lowes, Linda Pax (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Alfano, Lindsay N. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Muni Lofra, Robert (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Rufibach, Laura E. (The Jain Foundation) ; Rose, Kristy (The Children's Hospital at Westmead. The University of Sydney) ; Duong, Tina (Lucile Salter Packard Children's Hospital at Stanford. Neurology) ; Bello, Luca (Department of Neuroscience. University of Padova) ; Pedrosa-Hernández, Irene (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Holsten, S. (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Sakamoto, C. (Department of Physical Rehabilitation. National Center Hospital. National Center of Neurology and Psychiatry Tokyo) ; Canal, Aurélie (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ; Sánchez-Aguilera Práxedes, N. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Thiele, S. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians-University of Munich) ; Siener, C. (Department of Neurology. Washington University School of Medicine) ; Vandevelde, B. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ; DeWolf, Brittney (Cooperative International Neuromuscular Research Group. Children's National Health System) ; Maron, E. (ELAN-PHYSIO. Praxis für Physiotherapie Maron) ; Gordish-Dressman, H. (Pediatrics. Epidemiology and Biostatistics. George Washington University) ; Hilsden, H. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Guglieri, M. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust) ; Hogrel, J.Y. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ; Blamire, Andrew (Magnetic Resonance Centre. Institute for Cellular Medicine. Newcastle University) ; Carlier, Pierre G. (Pitié-Salpêtrière University Hospital) ; Spuler, S. (Charite Muscle Research Unit. Experimental and Clinical Research Center. A Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine) ; Day, John W. (Stanford University School of Medicine) ; Jones, K.J. (The Children's Hospital at Westmead. The University of Sydney) ; Bharucha-Goebel, Diana (National Institutes of Health (Bethesda, Estats Units d'Amèrica)) ; Salort-Campana, E. (Service des Maladies Neuromusculaire et de la SLA. Hôpital de La Timone) ; Pestronk, Alan (Washington University School of Medicine) ; Walter, M.C. (Department of Neurology. Friedrich-Baur-Institute. Ludwig-Maximilians-University of Munich) ; Paradas, C. (Instituto de Biomedicina de Sevilla) ; Stojkovic, T. (Institut de Myologie. AP-HP. GH Pitié-Salpêtrière) ; Mori-Yoshimura, Madoka (National Center of Neurology and Psychiatry Tokyo) ; Bravver, Elena (Neuroscience Institute. Carolinas Neuromuscular/ALS-MDA Center. Carolinas HealthCare System) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Pegoraro, Elena (University of Padova) ; Mendell, J. R. (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Jain COS Consortium, None (The Abigail Wexner Research Institute at Nationwide Children's Hospital) ; Straub, V. (The John Walton Muscular Dystrophy Research Centre. Translational and Clinical Research Institute. Newcastle University and Newcastle Hospitals NHS Foundation Trust)
Dysferlinopathy is a muscular dystrophy with a highly variable functional disease progression in which the relationship of function to some patient reported outcome measures (PROMs) has not been previously reported. [...]
2022 - 10.3389/fneur.2022.828525
Frontiers in neurology, Vol. 13 (october 2022) , p. 828525  
7.
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 / Previtali, S.C. (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ; Gidaro, T. (Hopital Trousseau) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Zambon, A. (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ; Carnesecchi, S. (Geneva University (UNIGE)) ; Roux-Lombard, P. (Geneva University Hospital (HUG)) ; Spitali, P. (Leiden University Medical Center) ; Signorelli, M. (Leiden University Medical Center) ; Szigyarto, C.A.K. (Kungl. Tekniska högskolan (Estocolm (Suècia)) ; Johansson, C. (Science for Life Laboratory) ; Gray, J. (EspeRare) ; Labolle, D. (EspeRare) ; Porte Thomé, F. (EspeRare) ; Pitchforth, J. (UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital Dubowitz Neuromuscular Centre) ; Domingos, J. (UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital Dubowitz Neuromuscular Centre) ; Muntoni, F. (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  
8.
13 p, 749.5 KB Targeted next-generation sequencing in a large cohort of genetically undiagnosed patients with neuromuscular disorders in Spain / 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  
9.
22 p, 1.4 MB Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert / 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  
10.
15 p, 510.1 KB Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy / Martín-Aguilar, Lorena (Institut d'Investigació Biomèdica Sant Pau) ; Lleixà, Cinta (Institut d'Investigació Biomèdica Sant Pau) ; Pascual-Goñi, Elba (Institut d'Investigació Biomèdica Sant Pau) ; Caballero-Ávila, Marta (Institut d'Investigació Biomèdica Sant Pau) ; Martinez-Martinez, Laura (Institut d'Investigació Biomèdica Sant Pau) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ; Cortés-Vicente, Elena (Institut d'Investigació Biomèdica Sant Pau) ; Turon-Sans, Janina (Institut d'Investigació Biomèdica Sant Pau) ; De Luna, Noemi (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Suarez-Calvet, Xavier (Institut d'Investigació Biomèdica Sant Pau) ; Gallardo, Eduard (Institut d'Investigació Biomèdica Sant Pau) ; Rajabally, Yusuf (Birmingham Women's and Children's Hospital (Regne Unit)) ; Scotton, Sangeeta (Birmingham Women's and Children's Hospital (Regne Unit)) ; Jacobs, Bart C. (Erasmus Medical Center) ; Baars, Adája (Erasmus Medical Center) ; Cortese, Andrea (Irccs Mondino Foundation) ; Vegezzi, Elisa (Irccs Mondino Foundation) ; Höftberger, Romana (Department of Neurology. Medical University of Vienna) ; Zimprich, Fritz (Department of Neurology. Medical University of Vienna) ; Roesler, Cornelia (Paracelsus Medical University) ; Nobile-Orazio, Eduardo (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ; Liberatore, Giuseppe (Irccs Humanitas Research Hospital. Milan University) ; Hiew, Fu Liong (Kuala Lumpur General Hospital) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Carvajal, Alejandra (Hospital Universitario Virgen de las Nieves (Granada)) ; Piñar-Morales, Raquel (Hospital Universitario San Cecilio de Granada) ; Usón-Martín, Mercedes (Hospital Universitari Son Llàtzer (Palma de Mallorca, Balears)) ; Albertí, Olalla (Hospital General San Jorge (Osca)) ; López Pérez, María Ángeles (Hospital San Pedro de Alcántara) ; Márquez, Fabian (Hospital Universitari de Girona Doctor Josep Trueta) ; Pardo-Fernández, Julio (Hospital Clínico Universitario (Santiago de Compostela, Galícia)) ; Muñoz-Delgado, Laura (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Cabrera-Serrano, Macarena (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ; Ortiz-Castellon, Nicolau (Hospital Universitari de Sant Joan de Reus (Tarragona)) ; Bartolomé, Manuel (Complejo Asistencial de Ávila) ; Duman, Özgür (Akdeniz University) ; Bril, Vera (Toronto General Hospital. University Health Network. University of Toronto) ; Segura-Chávez, Darwin (Instituto Nacional de Ciencias Neurológicas) ; Pitarokoili, Kalliopi (St. Josef-Hospital. Ruhr-University Bochum) ; Steen, Claudia (Sant Joseph Hospital) ; Illa, Isabel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Querol, Luis (Institut d'Investigació Biomèdica Sant Pau) ; Universitat Autònoma de Barcelona
Background and ObjectivesTo study the clinical and laboratory features of antineurofascin-155 (NF155)-positive autoimmune nodopathy (AN). MethodsPatients with anti-NF155 antibodies detected on routine immunologic testing were included. [...]
2022 - 10.1212/NXI.0000000000001098
Neurology® neuroimmunology & neuroinflammation, Vol. 9 Núm. 1 (february 2022) , p. e1098  

Articles : 61 registres trobats   1 - 10següentfinal  anar al registre:
Documents de recerca 8 registres trobats  
1.
7.6 MB Utilidad de la resonancia magnética como marcador para el seguimiento de pacientes con enfermedad de Pompe del adulto / Nuñez Peralta, Claudia Alejandra ; Diaz-Manera, Jordi, dir. ; Martínez Noguera, Antonio, dir. ; Webb, S. M. (Susan M.), 1952-, dir.
A la malaltia de Pompe, l'acumulació progressiva de glucògen al múscul culmina amb la pèrdua progressiva de fibres musculars i la substitució del teixit muscular per teixit fibro-adipós. La teràpia de reemplaçament enzimàtic (TRE) ha mostrat que és capaç d'estabilitzar la simptomatologia dels pacients, tot i que tot sembla indicar que el deteriorament muscular continua progressant el que porta a l'empitjorament de la força muscular. [...]
En la enfermedad de Pompe, la acumulación progresiva de glucógeno en el músculo culmina con la pérdida progresiva de fibras musculares y la sustitución del tejido muscular por tejido fibro-adiposo. [...]
In Pompe disease, the progressive accumulation of glycogen in the muscle culminates in the progressive loss of muscle fibers and the replacement of muscle tissue with fibro-adipose tissue. Enzyme replacement therapy (ERT) is able to stabilize patients' symptomatology, although it seems that muscle deterioration continues to progress leading to worsening muscle strength. [...]

2022  
2.
192 p, 11.0 MB Búsqueda de biomarcadores y estudio de mecanismos fisiopatológicos en la enfermedad de Pompe / Carrasco-Rozas, Ana ; Diaz-Manera, Jordi, dir. ; Gallardo, Eduard, dir. ; Querol, Luis, dir.
La malaltia de Pompe d'inici tardà (EPIT) és un trastorn genètic rar produït per mutacions al gen GAA i es caracteritza per una debilitat muscular progressiva. Les biòpsies musculars de pacients amb EPIT mostren una acumulació de glucogen que s'associa a la presència de vacuoles autofàgiques que indueixen una atròfia de les fibres musculars en fases més avançades. [...]
La enfermedad de Pompe de inicio tardío (EPIT) es un trastorno genético raro producido por mutaciones en el gen GAA y se caracteriza por una debilidad muscular progresiva. Las biopsias musculares de pacientes con EPIT muestran una acumulación de glucógeno que se asocia a la presencia de vacuolas autofágicas induciendo en fases avanzadas una atrofia de las fibras musculares. [...]
Late-onset Pompe disease (LOPD) is a rare genetic disorder produced by mutations in the GAA gene and is characterized by progressive muscle weakness. LOPD muscle biopsies show a progressive accumulation of glycogen and autophagic vacuoles eventually leading to the atrophy of muscle fibers. [...]

2022  
3.
163 p, 8.9 MB Aplicación de técnicas de resonancia magnética muscular en el diagnóstico y seguimiento de enfermedades neuromusculares / Alonso-Jiménez, Alicia ; Diaz-Manera, Jordi, dir. ; Illa Sendra, Isabel, dir.
La ressonància magnètica (RM) s'ha establert com una eina útil a l'estudi de les malalties neuromusculars. Dins les miopaties hereditàries formen un grup heterogeni que tenen en comú l'origen genètic. [...]
La resonancia magnética (RM) se ha establecido como una herramienta útil en el estudio de las enfermedades neuromusculares. Dentro de ellas, las miopatías hereditarias forman un grupo heterogéneo que tienen en común el origen genético. [...]
Magnetic resonance imaging (MRI) has been established recently as a useful tool for the study of patients with neuromuscular disorders. Among these diseases, hereditary myopathies form a heterogenous group which are genetic in nature. [...]

2022  
4.
175 p, 7.3 MB Estudios fisiopatológicos en distrofias musculares : biomarcadores pronósticos y aproximaciones terapéuticas / Fernández Simón, Esther ; de Luna Salva, Noemí, dir. ; Diaz-Manera, Jordi ; Illa Sendra, Isabel, dir.
Les distròfies musculars son malalties hereditàries caracteritzades per una degeneració progressiva de les fibres musculars que produeixen la destrucció del teixit muscular esquelètic, fet que condueix a una debilitat muscular que progresa en el temps i s'associa a un grau de discapacitat variable. [...]
Las distrofias musculares son enfermedades hereditarias caracterizadas por una degeneración progresiva de las fibras musculares que lleva a la destrucción del tejido muscular esquelético, lo que conduce a una debilidad muscular que progresa en el tiempo y se asocia a un grado de discapacidad variable. [...]
Muscular dystrophies are inherited diseases characterized by a progressive loss of muscle fibers and its replacement by fibrotic and fatty tissue leading to muscle weakness and disability that progresses over time. [...]

2020  
5.
195 p, 13.1 MB Papel del factor de crecimiento derivado de plaquetas bb en la distrofia muscular de duchenne en humanos y estudio de nintedanib como tratamiento de un modelo murino de déficit de distrofina / Piñol Jurado, Patricia ; Diaz-Manera, Jordi, dir. ; Gallardo, Eduard, dir. ; Illa Sendra, Isabel, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
La distrofia muscular de Duchenne (DMD) es un tipo de distrofia muscular de origen genético que se caracteriza por una degeneración muscular a causa de la deficiencia distrofina, una proteína del citoesqueleto involucrada en la estabilización del sarcolema. [...]
Duchenne muscular dystrophy (DMD) is genetic disorder characterized by a continuous muscle degeneration produced by the deficiency of dystrophin, which is a cytoskeletal protein involved in the stabilization of the sarcolemma. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2020.  
6.
225 p, 4.8 MB Estudio prospectivo clínico y radiológico de la enfermedad de Pompe del adulto / Figueroa Bonaparte, Sebastián Ariel ; Diaz-Manera, Jordi, dir. ; Illa Sendra, Isabel, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
La terapia de reemplazo enzimático (TRE) ha demostrado ser efectiva para la enfermedad de Pompe del adulto (EPA). El descubrimiento de biomarcadores útiles para la monitorización de la progresión de la enfermedad es uno de los tópicos de investigación prioritarios en esta enfermedad. [...]
Enzyme replacement therapy has shown to be effective for late onset Pompe disease (LOPD). The discovery of biomarkers useful for monitoring disease progression is one of the priority research topics in Pompe disease. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2019.  
7.
166 p, 4.4 MB Utilidad de los estudios de imagen muscular en el diagnóstico de un grupo de miopatías con debilidad axial / Alejaldre, Aída ; Illa Sendra, Isabel, dir. ; Diaz-Manera, Jordi, dir. ; Gallardo, Eduard, dir. ; Universitat Autònoma de Barcelona. Departament de Medicina
Las miopatías hereditarias son enfermedades de alta complejidad diagnóstica y pueden presentarse con diferentes fenotipos. Un fenotipo emergente es el fenotipo axial. La enfermedad de Pompe (EP) del adulto es una glicogenosis que provoca una debilidad muscular que generalmente afecta a las cinturas y la musculatura axial. [...]
Hereditary myopathies are diseases with a complex diagnosis. They may present with different phenotypes of muscle weakness. A relatively new phenotype is the axial phenotype. Adult Pompe's disease (PD) is a glycogenosis. [...]

[Barcelona] : Universitat Autònoma de Barcelona, 2016  
8.
162 p, 1.2 MB Disferlinopatías : nuevos aspectos diagnósticos y terapéuticos / Diaz-Manera, Jordi ; Illa Sendra, Isabel, dir. (Universitat Autònoma de Barcelona. Departament de Medicina) ; Universitat Autònoma de Barcelona. Departament de Medicina
La disferlina es una proteína que se expresa en el músculo esquelético humano. Aunque su función no se conoce completamente, se sabe que participa en la reparación de la membrana tras una lesión externa. [...]
Dysferlin is a protein expressed in the skeletal muscle. Despite its function is not completely known yet, it seems that participate in the process of membrane reparation after a damage. Patients with mutation in the dysferlin gene develop a muscle dystrophy characterized by a progressive weakness of the muscles of the lower and upper limbs. [...]

Bellaterra : Universitat Autònoma de Barcelona, 2013  

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