EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

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作者
Antonio Atalaia
Dagmar Wandrei
Nawel Lalout
Rachel Thompson
Adrian Tassoni
Peter A. C. ’t Hoen
Dimitrios Athanasiou
Suzie-Ann Baker
Paraskevi Sakellariou
Georgios Paliouras
Carla D’Angelo
Rita Horvath
Michelangelo Mancuso
Nadine van der Beek
Cornelia Kornblum
Janbernd Kirschner
Davide Pareyson
Guillaume Bassez
Laura Blacas
Maxime Jacoupy
Catherine Eng
François Lamy
Jean-Philippe Plançon
Jana Haberlova
Esther Brusse
Janneke G. J. Hoeijmakers
Marianne de Visser
Kristl G. Claeys
Carmen Paradas
Antonio Toscano
Vincenzo Silani
Melinda Gyenge
Evy Reviers
Dalil Hamroun
Elisabeth Vroom
Mark D. Wilkinson
Hanns Lochmuller
Teresinha Evangelista
机构
[1] Sorbonne Université,Inserm Center of Research in Myology, Neuro
[2] University of Freiburg,Myology Service G.H. Pitié
[3] Radboud University Medical Center,Salpêtrière
[4] Duchenne Parent Project,Clinical Trials Unit, Medical Center – University of Freiburg, Faculty of Medicine
[5] Children’s Hospital of Eastern Ontario Research Institute,Medical BioSciences Department
[6] World Duchenne Organisation,European Reference Network for Rare Neuromuscular Diseases EURO
[7] Duchenne Data Foundation,NMD, Institute of Myology
[8] University Hospital Pitie-Salpetriere-APHP,Department of Clinical Neurosciences
[9] University of Cambridge,Department of Clinical and Experimental Medicine
[10] Neurological Institute,Department of Neurology/Center for Lysosomal and Metabolic Diseases
[11] University of Pisa,Department of Neurology, Neuromuscular Diseases Section
[12] Erasmus MC University Medical Center,Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine
[13] University Hospital Bonn,Unit of Rare Neurological Diseases. Department of Clinical Neurosciences
[14] Medical Center – University of Freiburg,Neuromuscular Diseases Reference Center, Pitié
[15] Fondazione IRCCS Istituto Neurologico Carlo Besta,Salpêtrière University Hospital
[16] APHP Paris,Neuromuscular Center
[17] Association Institute of Myology,Department of Neurology, Maastricht University Medical Center+, and MHeNS, School for Mental Health and Neuroscience
[18] Hôpital Pitié-Salpêtrière,Department of Neurology
[19] Association Française Contre Les Myopathies,Department of Neurology, University Hospitals Leuven, and Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences
[20] AFM-Téléthon,Department of Clinical and Experimental Medicine
[21] European Patient Organisation for Dysimmune and Inflammatory Neuropathies,Department of Neurology and Laboratory of Neuroscience
[22] University Hospital Motol,CHRU de Montpellier, Direction de la Recherche et de L’Innovation
[23] Maastricht University,Departamento de Biotecnología
[24] Amsterdam University Medical Center,Biología Vegetal, Escuela Técnica Superior de Ingeniería Agronómica, Alimentaria y de Biosistemas, Centro de Biotecnología y Genómica de Plantas UPM
[25] Location Academic Medical Center,INIA
[26] KU Leuven,Neuromuscular Pathology Functional Unit; Neuropathology Service, Institute of Myology
[27] and Leuven Brain Institute (LBI),undefined
[28] Hospital Universitario Virgen del Rocío/IBiS,undefined
[29] AOU G. Martino Di Messina,undefined
[30] University of Messina,undefined
[31] IRCCS Istituto Auxologico Italiano,undefined
[32] ALS Liga Belgium,undefined
[33] Hôpital La Colombière,undefined
[34] Universidad Politécnica de Madrid (UPM),undefined
[35] Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA/CSIC),undefined
[36] University Hospital Pitié-Salpêtrière-APHP,undefined
关键词
Registry; Registry Hub; Neuromuscular Diseases; Rare Diseases; FAIR data;
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  • [1] EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders
    Atalaia, Antonio
    Wandrei, Dagmar
    Lalout, Nawel
    Thompson, Rachel
    Tassoni, Adrian
    't Hoen, Peter A. C.
    Athanasiou, Dimitrios
    Baker, Suzie-Ann
    Sakellariou, Paraskevi
    Paliouras, Georgios
    D'Angelo, Carla
    Horvath, Rita
    Mancuso, Michelangelo
    van der Beek, Nadine
    Kornblum, Cornelia
    Kirschner, Janbernd
    Pareyson, Davide
    Bassez, Guillaume
    Blacas, Laura
    Jacoupy, Maxime
    Eng, Catherine
    Lamy, Francois
    Plancon, Jean-Philippe
    Haberlova, Jana
    Brusse, Esther
    Hoeijmakers, Janneke G. J.
    de Visser, Marianne
    Claeys, Kristl G.
    Paradas, Carmen
    Toscano, Antonio
    Silani, Vincenzo
    Gyenge, Melinda
    Reviers, Evy
    Hamroun, Dalil
    Vroom, Elisabeth
    Wilkinson, Mark D.
    Lochmuller, Hanns
    Evangelista, Teresinha
    [J]. ORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)
  • [2] The EURO-NMD registry project: how to establish the datasets for the first European registry for all neuromuscular diseases
    D'Angelo, C.
    Atalaia, A.
    Jaeger, D.
    van Lin, N.
    Hoen, P. ' t
    Evangelista, T.
    Tassoni, A.
    Lochmueller, H.
    [J]. NEUROMUSCULAR DISORDERS, 2021, 31 : S155 - S155