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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, 5.8 MB |
Absence of p.R50X Pygm read-through in McArdle disease cellular models
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Tarrasó, Guillermo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Real-Martinez, Alberto (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Parés, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Romero-Cortadellas, Lídia (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Puigros, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Moya Borrego, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
de Luna Salva, Noemí (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Brull, Astrid (Sorbonne Université, INSERM UMRS_974, Center of Research in Myology) ;
Martín, Miguel Angel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Arenas, Joaquín (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lucia, Alejandro (European University) ;
Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Barquinero, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Vissing, John (Copenhagen University Hospital Rigshospitalet) ;
Krag, Thomas (Copenhagen University Hospital Rigshospitalet) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through agents (including amlexanox, Ataluren, RTC13 and G418) in McArdle disease. [...]
2020 - 10.1242/dmm.043281
Disease Models & Mechanisms, Vol. 13 (january 2020)
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8 p, 1.1 MB |
Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC)
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Scalco, Renata S. (National Hospital (Regne Unit)) ;
Lucia, Alejandro (Universidad Europea de Madrid) ;
Santalla, Alfredo (Universidad Pablo de Olavide) ;
Martinuzzi, Andrea (IRCCS Medea Scientific Insitute (Itàlia)) ;
Vavla, Marinela (IRCCS Medea Scientific Insitute (Itàlia)) ;
Reni, Gianluigi (IRCCS Medea Scientific Insitute (Itàlia)) ;
Toscano, Antonio (University of Messinae) ;
Musumeci, Olimpia (University of Messina) ;
Voermans, Nicol C. (Radboud University Medical Center) ;
Kouwenberg, Carlyn V. (Radboud University Medical Center) ;
Laforêt, Pascal (Paris Saclay University) ;
San-Millán, Beatriz (Instituto de Investigación Sanitaria Galicia Sur) ;
Vieitez, Irene (Instituto de Investigación Sanitaria Galicia Sur) ;
Siciliano, Gabriele (University of Pisa) ;
Kühnle, Enrico (University Hospital Bochum) ;
Trost, Rebeca (University Hospital Bochum) ;
Sacconi, Sabrina (Université Côte D'Azur) ;
Stemmerik, Mads G. (Copenhagen University Hospital Rigshospitalet) ;
Durmus, Hacer (Istanbul University) ;
Kierdaszuk, Biruta (Medical University of Warsaw) ;
Wakelin, Andrew (Association for Glycogen Storage Disease (Regne Unit)) ;
Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Quinlivan, Ros (National Hospital (Regne Unit)) ;
Vissing, John (Copenhagen University Hospital Rigshospitalet) ;
Universitat Autònoma de Barcelona
The European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) was launched to register rare muscle glycogenoses in Europe, to facilitate recruitment for research trials and to learn about the phenotypes and disseminate knowledge about the diseases through workshops and websites. [...]
2020 - 10.1186/s13023-020-01562-x
Orphanet Journal of Rare Diseases, Vol. 15 (november 2020)
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11 p, 563.5 KB |
Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry)
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Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Andreu Périz, Antoni Lluís (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Bruno, Claudio (IRCCS Istituto Giannina Gaslini) ;
Hadjigeorgiou, Georgios M. (University of Thessaly) ;
Haller, Ronald G. (Institute for Exercise and Environmental Medicine of Texas Health Presbyterian Hospital) ;
Laforêt, Pascal (Paris Saclay University) ;
Lucia, Alejandro (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Martín, Miguel A. (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Martinuzzi, Andrea (IRCCS Eugenio Medea-Associazione "La Nostra Famiglia" Scientific Institute) ;
Navarro, Carmen (Instituto de Investigación Biomédica de Vigo) ;
Oflazer, Piraye (Istanbul University) ;
Pouget, Jean (Assistance Publique-Hopitaux de Marseille) ;
Quinlivan, Ros (UCL Institute of Neurology, National Hospital) ;
Sacconi, Sabrina (University of Nice) ;
Scalco, Renata S. (UCL Institute of Neurology (Regne Unit)) ;
Toscano, Antonio (University of Messina) ;
Vissing, John (Copenhagen University Hospital Rigshospitalet) ;
Vorgerd, Matthias (University Hospital Bergmannsheil Bochum) ;
Wakelin, Andrew (Association for Glycogen storage Disease (Regne Unit)) ;
Martí, Ramon A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
International patient registries are of particular importance for rare disorders, as they may contribute to overcome the lack of knowledge derived from low number of patients and limited awareness of these diseases, and help to learn more about their geographical or population-based specificities, which is relevant for research purposes and for promoting better standards of care and diagnosis. [...]
2020 - 10.1186/s13023-020-01455-z
Orphanet Journal of Rare Diseases, Vol. 15 (october 2020)
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3.0 MB |
Depletion of ATP Limits Membrane Excitability of Skeletal Muscle by Increasing Both ClC1-Open Probability and Membrane Conductance
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Leermakers, Pieter Arnold (Aarhus University) ;
Dybdahl, Kamilla Løhde Tordrup (Aarhus University) ;
Husted, Kristian Søborg (Aarhus University) ;
Riisager, Anders (Aarhus University) ;
de Paoli, Frank Vincenzo (Aarhus University) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Vissing, John (Copenhagen University Hospital Rigshospitalet) ;
Krag, Thomas Oliver Brøgger (Copenhagen University Hospital Rigshospitalet) ;
Pedersen, Thomas Holm (Aarhus University) ;
Universitat Autònoma de Barcelona
Activation of skeletal muscle contractions require that action potentials can be excited and propagated along the muscle fibers. Recent studies have revealed that muscle fiber excitability is regulated during repeated firing of action potentials by cellular signaling systems that control the function of ion channel that determine the resting membrane conductance (G ). [...]
2020 - 10.3389/fneur.2020.00541
Frontiers in neurology, Vol. 11 (june 2020)
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18 p, 365.4 KB |
Preclinical Research in McArdle Disease : A Review of Research Models and Therapeutic Strategies
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Villarreal-Salazar, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Brull, Astrid (National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Andreu Périz, Antoni Lluís (EATRIS, European Infrastructure for Translational Medicine) ;
Martín, Miguel Angel (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Arenas, Joaquín (Instituto de Investigación Sanitaria Hospital 12 de Octubre (i+12)) ;
Santalla, Alfredo (Universidad Pablo de Olavide. Departamento de Deporte e Informática) ;
Lucia, Alejandro (European University. Faculty of Sport Sciences) ;
Vissing, John (Copenhagen University Hospital Rigshospitalet) ;
Krag, Thomas (Copenhagen University Hospital Rigshospitalet) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
McArdle disease is an autosomal recessive disorder of muscle glycogen metabolism caused by pathogenic mutations in the PYGM gene, which encodes the skeletal muscle-specific isoform of glycogen phosphorylase. [...]
2021 - 10.3390/genes13010074
Genes, Vol. 13 (december 2021)
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48 p, 682.2 KB |
Preclinical research in glycogen storage diseases : a comprehensive review of current animal models
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Almodóvar Payá, Aitana (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Villarreal-Salazar, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau) ;
Nogales, Gisela (Institut Germans Trias i Pujol) ;
Real-Martinez, Alberto (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Andreu Périz, Antoni Lluís (European Infrastructure for Translational Medicine) ;
Martín, Miguel Angel (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Arenas, Joaquín (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Lucia, Alejandro (Universidad Europea. Facultad de Ciencias del Deporte) ;
Vissing, John (University of Copenhagen. Department of Neurology) ;
Krag, Thomas (University of Copenhagen. Department of Neurology) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
GSD are a group of disorders characterized by a defect in gene expression of specific enzymes involved in glycogen breakdown or synthesis, commonly resulting in the accumulation of glycogen in various tissues (primarily the liver and skeletal muscle). [...]
2020 - 10.3390/ijms21249621
International journal of molecular sciences, Vol. 21 Núm. 24 (2020) , p. 9621
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11 p, 286.2 KB |
Long-term safety and efficacy of eculizumab in generalized myasthenia gravis
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Muppidi, Srikanth (Stanford University School of Medicine) ;
Utsugisawa, Kimiaki (Hanamaki General Hospital) ;
Benatar, Michael (University of Miami Miller School of Medicine) ;
Murai, Hiroyuki (International University of Health and Welfare) ;
Barohn, Richard J. (University of Kansas Medical Center) ;
Illa, Isabel (Hospital Universitari Vall d'Hebron) ;
Jacob, Saiju (Birmingham Women's and Children's Hospital (Regne Unit)) ;
Vissing, John (University of Copenhagen) ;
Burns, Ted M. (University of Virginia Health System) ;
Kissel, John T. (The Ohio State University) ;
Nowak, Richard J. (Yale University) ;
Andersen, Henning (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Casasnovas, Carlos (Hospital Universitari de Bellvitge) ;
De Bleecker, Jan (Universitair Ziekenhuis Gent) ;
Vu, Tuan H. (University of South Florida) ;
Mantegazza, Renato (Fondazione IRCCS Istituto Neurologico Carlo Besta (R.M.) (Milà, Itàlia)) ;
O'Brien, Fanny L. (Alexion Pharmaceuticals) ;
Wang, Jing Jing (Alexion Pharmaceuticals) ;
Fujita, Kenji P (Alexion Pharmaceuticals) ;
Howard, James F. (University of North Carolina)
Introduction : Eculizumab is effective and well tolerated in patients with antiacetylcholine receptor antibody-positive refractory generalized myasthenia gravis (gMG; REGAIN; NCT01997229). We report an interim analysis of an open-label extension of REGAIN, evaluating eculizumab's long-term safety and efficacy. [...]
2019 - 10.1002/mus.26447
Muscle & nerve, Vol. 60 (march 2019) , p. 14-24
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14 p, 3.9 MB |
Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model
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Real-Martinez, A. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Brull, Astrid (Sorbonne Université) ;
Huerta, Jordi (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Tarrasó, G. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lucia, Alejandro (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Martin, M. A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Arenas, Joaquín (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Andreu, A. L. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Nogales, Gisela (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ;
Vissing, John (University of Copenhagen) ;
Krag, Thomas (University of Copenhagen) ;
de Luna Salva, Noemí (Institut d'Investigació Biomèdica Sant Pau) ;
Pinós Figueras, Tomàs (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Universitat Autònoma de Barcelona
McArdle disease is an autosomal recessive disorder caused by the absence of the muscle glycogen phosphorylase, which leads to impairment of glycogen breakdown. The McArdle mouse, a model heavily affected by glycogen accumulation and exercise intolerance, was used to characterize disease progression at three different ages. [...]
2019 - 10.1038/s41598-019-41414-8
Scientific reports, Vol. 9 Núm. 1 (january 2019) , p. 5116
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