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Articles, 3 registres trobats
Articles 3 registres trobats  
1.
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)  
Registre complet - Creative Commons
2.
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)  
Registre complet - Creative Commons
3.
9 p, 1.1 MB Muscle MRI in neutral lipid storage disease (NLSD) / Garibaldi, Matteo ('Sapienza' University of Rome) ; Tasca, Giorgio (Policlinico "A.Gemelli" Foundation University Hospital, Rome) ; Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Ottaviani, Pierfancesco (Istituto Dermopatico dell'Immacolata, Rome) ; Laschena, Francesco (Istituto Dermopatico dell'Immacolata, Rome) ; Pantoli, Donatella (San Filippo Neri Hospital, Rome) ; Gerevini, Simonetta (Istituto di Ricovero e Cura A Carattere Scientifico (IRCCS)) ; Fiorillo, Chiara (Istituto Giannina Gaslini, Genoa) ; Maggi, Lorenzo (Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan) ; Tasca, Elisabetta (IRCCS S.Camillo, Lido di Venezia, Italy) ; D'Amico, Adele (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Musumeci, Olimpia (University of Messina) ; Toscano, Antonio (University of Messina) ; Bruno, Claudio (Istituto Giannina Gaslini, Genoa) ; Massa, Roberto (University of Rome Tor Vergata) ; Angelini, Corrado (IRCCS S.Camillo, Lido di Venezia) ; Bertini, Enrico (Ospedale Pediatrico Bambino Gesù (Roma, Itàlia)) ; Antonini, Giovanni ('Sapienza' University of Rome) ; Pennisi, Elena Maria (San Filippo Neri Hospital, Rome) ; Universitat Autònoma de Barcelona
Neutral lipid storage disease (NLSD) is a rare inherited disorder of lipid metabolism resulting in lipid droplets accumulation in different tissues. Skeletal muscle could be affected in both two different form of disease: NLSD with myopathy (NLSD-M) and NLSD with ichthyosis (NLSD-I). [...]
2017 - 10.1007/s00415-017-8498-8
Journal of Neurology, Vol. 264 (may 2017) , p. 1334-1342  
Registre complet - Creative Commons

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