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Artículos Encontrados 3 registros  
1.
12 p, 545.3 KB E-Health Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress : Nice, France, March 22-23, 2019 / Pini, J. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ; Siciliano, G. (Neurological Clinic. Department of Clinical and Experimental Medicine. Ospedale Santa Chiara. University of Pisa) ; Lahaut, P. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ; Braun, S. (AFM Telethon) ; Segovia-Kueny, S. (AFM Telethon) ; Kole, A. (Public Health Policy Director Rare 2030 Lead EURORDIS) ; Hérnando, I. (Healthcare Director EURORDIS) ; Selb, J. (University Clinic Golnik. Golnik. Slovenia -Medical Consultant Parsek) ; Schirinzi, E. (Neurological Clinic. Department of Clinical and Experimental Medicine. Ospedale Santa Chiara. University of Pisa) ; Duong, T. (Department of Neurology Stanford University) ; Hogrel, J.Y. (Institut de Myologie (París, França)) ; Olmedo, J.J.S. (Escuela Técnica Superior de Ingenieros de Telecomunicación) ; Vissing, J. (Copenhagen Neuromuscular Center. Rigshospitalet. University of Copenhagen) ; Servais, L. (Division of Child Neurology Reference Center for Neuromuscular Disease. Centre Hospitalier Régional de Références des Maladies Neuromusculaires. Department of Paediatrics. University Oxford) ; Vincent-Genod, D. (L'Escale. Pediatric Rehabilitation Department. Hospices Civils de Lyon) ; Vuillerot, C. (Neuron Interaction Team. NeuroMyogène Institute. Lyon University) ; Bannwarth, S. (Institute for Research on Cancer and Aging of Nice (IRCAN). Faculty of Medicine. Université Côte d'Azur (UCA)) ; Eggenspieler, D. (Healthcare Program Director. Sysnav) ; Vicart, S. (Channelopahies Reference Center. Service of Neuro-Myology. University Hospital Pitié-Salpêtrière. Assistance Publique-Hôpitaux de Paris) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Lochmüller, H. (Centre de Regulació Genòmica) ; Sacconi, S. (Fédération Hospitalo-Universitaire Oncoage. Centre Hospitalier Universitaire de Nice. Université Côte d'Azur (UCA)) ; Cavalli, M. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ; Puma, A. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ; Villa, L. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD) ; Andr, E. (Université Côte d'Azur (UCA). Centre Hospitalier Universitaire de Nice. Peripheral Nervous System and Muscle Department. Rare Neuromuscular Disease Reference Center. ERN-Euro-NMD)
By definition, neuromuscular diseases are rare and fluctuating in terms of symptoms; patients are often lately diagnosed, do not have enough information to understand their condition and be proactive in their management. [...]
2021 - 10.3233/JND-210655
Journal of Neuromuscular Diseases, Vol. 8 Núm. 4 (2021) , p. 743-754  
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2.
8 p, 1.1 MB Data from the European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC) / 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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3.
11 p, 563.5 KB Creation and implementation of a European registry for patients with McArdle disease and other muscle glycogenoses (EUROMAC registry) / 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)  
Registro completo - Creative Commons

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2 Sacconi, Sabrina
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