The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Marie de Antonio (1, 2) , Celine Dogan (1, 2) , Ferroudja Daidj (1, 2) , Bruno Eymard (1, 2) , Jack Puymirat (3) , Jean Mathieu , Cynthia Gagnon (4) , Sandrine Katsahian (5) , Filnemus Myotonic Dystrophy Study Group , Dalil Hamroun (6) , Guillaume Bassez (2)

1 CHU Pitié-Salpêtrière [AP-HP]
2 Centre de recherche en Myologie – U974 SU-INSERM
3 CHU de Québec–Université Laval
4 UdeS - Université de Sherbrooke
5 CRC (UMR_S_1138 / U1138) - Centre de Recherche des Cordeliers
6 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]

Mots clés: Research; Rare disease registry; Myotonic dystrophy; Medical care; Platform

Domaines: Sciences du Vivant [q-bio]

Marie de Antonio, Celine Dogan, Ferroudja Daidj, Bruno Eymard, Jack Puymirat, et al.. The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care. Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.122. ⟨10.1186/s13023-019-1088-3⟩. ⟨hal-02148794⟩