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Wyświetlanie 1-20 z 1400
Tytuł:
EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders.
Autorzy:
Atalaia A; Inserm Center of Research in Myology, Neuro-Myology Service G.H. Pitié-Salpêtrière, Sorbonne Université, Paris, France. .
Wandrei D; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
Lalout N; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, Netherlands.; Duchenne Parent Project, Veenendaal, The Netherlands.
Thompson R; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Tassoni A; Clinical Trials Unit, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
't Hoen PAC; Medical BioSciences Department, Radboud University Medical Center, Nijmegen, Netherlands.
Athanasiou D; World Duchenne Organisation, Veenendaal, The Netherlands.
Baker SA; World Duchenne Organisation, Veenendaal, The Netherlands.
Sakellariou P; Duchenne Data Foundation, Bergen Op Zoom, The Netherlands.
Paliouras G; Duchenne Data Foundation, Bergen Op Zoom, The Netherlands.
D'Angelo C; European Reference Network for Rare Neuromuscular Diseases EURO-NMD, Institute of Myology, University Hospital Pitie-Salpetriere-APHP, Paris, France.
Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.
van der Beek N; Department of Neurology/Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Kornblum C; Department of Neurology, Neuromuscular Diseases Section, University Hospital Bonn, Bonn, Germany.
Kirschner J; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Pareyson D; Unit of Rare Neurological Diseases. Department of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Bassez G; Neuromuscular Diseases Reference Center, Pitié-Salpêtrière University Hospital, APHP Paris, Paris, France.
Blacas L; Association Institute of Myology, Hôpital Pitié-Salpêtrière, Paris, France.
Jacoupy M; Association Institute of Myology, Hôpital Pitié-Salpêtrière, Paris, France.
Eng C; Association Française Contre Les Myopathies, AFM-Téléthon, Evry, France.
Lamy F; Association Française Contre Les Myopathies, AFM-Téléthon, Evry, France.
Plançon JP; European Patient Organisation for Dysimmune and Inflammatory Neuropathies, Paris, France.
Haberlova J; Neuromuscular Center, University Hospital Motol, Prague, Czech Republic.
Brusse E; Department of Neurology/Center for Lysosomal and Metabolic Diseases, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
Hoeijmakers JGJ; Department of Neurology, Maastricht University Medical Center+, and MHeNS, School for Mental Health and Neuroscience, Maastricht University, Maastricht, The Netherlands.
de Visser M; Department of Neurology, Amsterdam University Medical Center, Location Academic Medical Center, Amsterdam, The Netherlands.
Claeys KG; Department of Neurology, University Hospitals Leuven, and Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI), Louvain, Belgium.
Paradas C; Hospital Universitario Virgen del Rocío/IBiS, Avda Manuel Siurot S/N, 41013, Seville, Andalucía, Spain.
Toscano A; Department of Clinical and Experimental Medicine, AOU G. Martino Di Messina, University of Messina, Messina, Italy.
Silani V; Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy.
Gyenge M; Neuromuscular Diseases Reference Center, Pitié-Salpêtrière University Hospital, APHP Paris, Paris, France.
Reviers E; ALS Liga Belgium, Louvain, Belgium.
Hamroun D; CHRU de Montpellier, Direction de la Recherche et de L'Innovation, Hôpital La Colombière, Montpellier, France.
Vroom E; World Duchenne Organisation, Veenendaal, The Netherlands.
Wilkinson MD; Departamento de Biotecnología-Biología Vegetal, Escuela Técnica Superior de Ingeniería Agronómica, Alimentaria y de Biosistemas, Centro de Biotecnología y Genómica de Plantas UPM-INIA, Universidad Politécnica de Madrid (UPM), Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA/CSIC), 28223, Madrid, ES, Spain.
Lochmuller H; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.; Department of Neuropediatrics and Muscle Disorders, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Evangelista T; Neuromuscular Pathology Functional Unit; Neuropathology Service, Institute of Myology, University Hospital Pitié-Salpêtrière-APHP, Paris, France.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Feb 14; Vol. 19 (1), pp. 66. Date of Electronic Publication: 2024 Feb 14.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Neuromuscular Diseases*/genetics
Humans ; Registries ; Rare Diseases
Czasopismo naukowe
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