4 results on '"Bassez, G."'
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2. Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease (vol 13, 155, 2018)
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Wood, L, Bassez, G, Bleyenheuft, C, Campbell, C, Cossette, L, Jimenez-Moreno, AC, Dai, Y, Dawkins, H, Diaz-Manera, J, Dogan, C, el Sherif, R, Fossati, B, Graham, C, Hilbert, J, Kastreva, K, Kimura, E, Korngut, L, Kostera-Pruszczyk, A, Lindberg, C, Lindvall, B, Luebbe, E, Lusakowska, A, Mazanec, R, Meola, G, Orlando, L, Takahashi, MP, Peric, S, Puymirat, J, Rakocevic-Stojanovic, V, Rodrigues, M, Roxburgh, R, Schoser, B, Segovia, S, Shatillo, A, Thiele, S, Tournev, I, van Engelen, B, Vohanka, S, and Lochmuller, H
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- 2019
3. rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences
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Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, and Charlet-Berguerand N
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- 2018
4. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care
- Author
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Antonio, M., Dogan, C., Eymard, B., Puymirat, J., Mathieu, J., Gagnon, C., Attarian, S., Ac Aube-Nathier, Audic, F., Bach, N., Barnerias, C., Al Bedat-Millet, Behin, A., Bellance, R., Rabah BEN YAOU, Bombard, V., Bouhour, F., Boutte, C., Boyer, F., Cances, C., Chabrol, B., Jb Chanson, Chapon, F., Chasseriau, R., Cintas, P., Am Cobo, Colombert, V., Mc Cruz, Jm Cuisset, Deschamps, R., Desguerre, I., Durigneux, J., Duval, F., Espil, C., Fafin, C., Feasson, L., Fradin, M., Furby, A., Goldenberg, A., Grotto, S., Ghorab, K., Guyant-Marechal, L., Heron, D., Isapof, A., Jacquin-Piques, A., Journel, H., Laforet, P., Lagrue, E., Laroche-Raynaud, C., Laugel, V., Lebeau, F., Magot, A., Manel, V., Mayer, M., Mercier, S., Menard, D., Michaud, M., Mc Minot, Rj Morales, Nadaj-Pakleza, A., Jb Noury, Pasquier, L., Pellieux, S., Pereon, Y., Perrier, J., Peudenier, S., Preudhomme, M., Pouget, J., Quijano-Roy, S., Ragot-Mandry, S., Richelme, C., Rivier, F., Sabouraud, P., Sacconi, S., Salort-Campana, E., Sarret, C., Schaeffer, S., Sole, G., Stojkovic, T., Taithe, F., Testard, H., Tiffereau, V., Urtizberea, A., Vanhulle, C., Vial, C., Walther-Louvier, U., Zagnoli, F., Hamroun, D., Bassez, G., CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de biologie et chimie des protéines [Lyon] (IBCP), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS), Centre de Recherches du Service de Santé des Armées (CRSSA), Service de Santé des Armées, Energy Storage and Conversion, Research Institute of Hydro-Québec, Energy Storage and Conversion, Hôpital de la Timone [CHU - APHM] (TIMONE), Department of Medicine, Icahn School of Medicine at Mount Sinai [New York] (MSSM), INVENTAIRE FORESTIER NATIONAL CAEN, Partenaires IRSTEA, Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA)-Institut national de recherche en sciences et technologies pour l'environnement et l'agriculture (IRSTEA), Centre de référence Caribéen pour les maladies neuromusculaires (CeRCa), Hôpital Pierre Zobda-Quitman [CHU de la Martinique], CHU de la Martinique [Fort de France]-CHU de la Martinique [Fort de France], Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Hospices Civils de Lyon (HCL), Contrôle de la Réponse Immune B et des Lymphoproliférations (CRIBL), Université de Limoges (UNILIM)-Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de Neurologie Pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Service de Neurologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Centre de compétences pathologies neuromusculaires [CHU Caen], Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Paris Descartes - Paris 5 (UPD5), Université d'Angers (UA), Institut de Recherche en Systèmes Electroniques Embarqués (IRSEEM), Université de Rouen Normandie (UNIROUEN), and Normandie Université (NU)-Normandie Université (NU)-École Supérieure d’Ingénieurs en Génie Électrique (ESIGELEC)
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[SDV]Life Sciences [q-bio] - Abstract
International audience; Background: The relevance of registries as a key component for developing clinical research for rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations of RD registries our challenge was (1) to improve standardization and data comparability; (2) to facilitate interoperability between existing RD registries; (3) to limit the amount of incomplete data; (4) to improve data quality. This report describes the innovative concept of the DM-Scope Registry that was developed to achieve these objectives for Myotonic Dystrophy (DM), a prototypical example of highly heterogeneous RD. By the setting up of an integrated platform attractive for practitioners use, we aimed to promote DM epidemiology, clinical research and patients care management simultaneously.Results: The DM-Scope Registry is a result of the collaboration within the French excellence network established by the National plan for RDs. Inclusion criteria is all genetically confirmed DM individuals, independently of disease age of onset. The dataset includes social-demographic data, clinical features, genotype, and biomaterial data, and is adjustable for clinical trial data collection. To date, the registry has a nationwide coverage, composed of 55 neuromuscular centres, encompassing the whole disease clinical and genetic spectrum. This widely used platform gathers almost 3000 DM patients (DM1 n = 2828, DM2 n = 142), both children (n = 322) and adults (n = 2648), which accounts for > 20% of overall registered DM patients internationally. The registry supported 10 research studies of various type i.e. observational, basic science studies and patient recruitment for clinical trials.Conclusion: The DM-Scope registry represents the largest collection of standardized data for the DM population. Our concept improved collaboration among health care professionals by providing annual follow-up of quality longitudinal data collection. The combination of clinical features and biomolecular materials provides a comprehensive view of the disease in a given population. DM-Scope registry proves to be a powerful device for promoting both research and medical care that is suitable to other countries. In the context of emerging therapies, such integrated platform contributes to the standardisation of international DM research and for the design of multicentre clinical trials. Finally, this valuable model is applicable to other RDs.
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