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Autor
't Hoen, Peter A C 1 Atalaia, Antonio 1 Athanasiou, Dimitrios 1 Baker, Suzie-Ann 1 Bassez, Guillaume 1 Blacas, Laura 1 Brusse, Esther 1 Claeys, Kristl G 1 D'Angelo, Carla 1 Eng, Catherine 1 Evangelista, Teresinha 1 Gyenge, Melinda 1 Haberlova, Jana 1 Hamroun, Dalil 1 Hoeijmakers, Janneke G J 1 Horvath, Rita 1 Jacoupy, Maxime 1 Kirschner, Janbernd 1 Kornblum, Cornelia 1 Lalout, Nawel 1
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Pracoviště
ALS Liga Belgium Louvain Belgium 1 Association Française Contre Les Myop... 1 Association Institute of Myology Hôpi... 1 CHRU de Montpellier Direction de la R... 1 Children's Hospital of Eastern Ontari... 1 Clinical Trials Unit Medical Center U... 1 Departamento de Biotecnología Biologí... 1 Department of Clinical Neurosciences ... 1 Department of Clinical and Experiment... 1 Department of Clinical and Experiment... 1 Department of Neurology Amsterdam Uni... 1 Department of Neurology Center for Ly... 1 Department of Neurology Maastricht Un... 1 Department of Neurology Neuromuscular... 1 Department of Neurology University Ho... 1 Department of Neurology and Laborator... 1 Department of Neuropediatrics and Mus... 1 Duchenne Data Foundation Bergen Op Zo... 1 Duchenne Parent Project Veenendaal Th... 1 European Patient Organisation for Dys... 1
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Autor
't Hoen, Peter A C 1 Atalaia, Antonio 1 Athanasiou, Dimitrios 1 Baker, Suzie-Ann 1 Bassez, Guillaume 1 Blacas, Laura 1 Brusse, Esther 1 Claeys, Kristl G 1 D'Angelo, Carla 1 Eng, Catherine 1 Evangelista, Teresinha 1 Gyenge, Melinda 1 Haberlova, Jana 1 Hamroun, Dalil 1 Hoeijmakers, Janneke G J 1 Horvath, Rita 1 Jacoupy, Maxime 1 Kirschner, Janbernd 1 Kornblum, Cornelia 1 Lalout, Nawel 1
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Pracoviště
ALS Liga Belgium Louvain Belgium 1 Association Française Contre Les Myop... 1 Association Institute of Myology Hôpi... 1 CHRU de Montpellier Direction de la R... 1 Children's Hospital of Eastern Ontari... 1 Clinical Trials Unit Medical Center U... 1 Departamento de Biotecnología Biologí... 1 Department of Clinical Neurosciences ... 1 Department of Clinical and Experiment... 1 Department of Clinical and Experiment... 1 Department of Neurology Amsterdam Uni... 1 Department of Neurology Center for Ly... 1 Department of Neurology Maastricht Un... 1 Department of Neurology Neuromuscular... 1 Department of Neurology University Ho... 1 Department of Neurology and Laborator... 1 Department of Neuropediatrics and Mus... 1 Duchenne Data Foundation Bergen Op Zo... 1 Duchenne Parent Project Veenendaal Th... 1 European Patient Organisation for Dys... 1
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NLK
BioMedCentral
od 2006-12-01
BioMedCentral Open Access
od 2006
Directory of Open Access Journals
od 2006
Free Medical Journals
od 2006
PubMed Central
od 2006
Europe PubMed Central
od 2006
ProQuest Central
od 2009-01-01
Open Access Digital Library
od 2006-01-01
Open Access Digital Library
od 2006-01-01
Medline Complete (EBSCOhost)
od 2006-01-01
Health & Medicine (ProQuest)
od 2009-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2006
Springer Nature OA/Free Journals
od 2006-12-01
PubMed
38355534
DOI
10.1186/s13023-024-03059-3
Knihovny.cz E-zdroje
BACKGROUND: The EURO-NMD Registry collects data from all neuromuscular patients seen at EURO-NMD's expert centres. In-kind contributions from three patient organisations have ensured that the registry is patient-centred, meaningful, and impactful. The consenting process covers other uses, such as research, cohort finding and trial readiness. RESULTS: The registry has three-layered datasets, with European Commission-mandated data elements (EU-CDEs), a set of cross-neuromuscular data elements (NMD-CDEs) and a dataset of disease-specific data elements that function modularly (DS-DEs). The registry captures clinical, neuromuscular imaging, neuromuscular histopathology, biological and genetic data and patient-reported outcomes in a computer-interpretable format using selected ontologies and classifications. The EURO-NMD registry is connected to the EURO-NMD Registry Hub through an interoperability layer. The Hub provides an entry point to other neuromuscular registries that follow the FAIR data stewardship principles and enable GDPR-compliant information exchange. Four national or disease-specific patient registries are interoperable with the EURO-NMD Registry, allowing for federated analysis across these different resources. CONCLUSIONS: Collectively, the Registry Hub brings together data that are currently siloed and fragmented to improve healthcare and advance research for neuromuscular diseases.
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- lidé MeSH
- neuromuskulární nemoci * genetika MeSH
- registrace MeSH
- vzácné nemoci MeSH
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