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Résultats de la recherche - 5 results
International collaboration to improve knowledge on myotonic dystrophy type 2
Korngut, Lawrence; Marlène Jagut; Schoser, Benedikt; Forbes, Robin; Poll, Annie; Roxburgh, Richard Source: Journal of Neuromuscular Diseases, Volume 11, Issue 6 (2024) Keywords: age at onset ambulation ...
Affiliation to the Treat-NMD Consortium Using an Agreed Minimum Dataset Allows Small Registries and Large Registries to Collaborate Together
Publication Type: Scientific poster, presentation or proceeding Authors: Richard Roxburgh; Miriam Rodrigues; Victoria Hodgkinson; Lawrence Korngut; Benedikt Schoser; Federica Montagnese; Stephan ...
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease.
Richard Roxburgh; Benedikt Schoser; Sonia Segovia; Andriy Shatillo; Simone Thiele; Ivailo Tournev; Baziel van Engelen; Stanislav Vohanka; Hanns Lochmüller Source: Orphanet J Rare Dis, Volume 13, Issue ...
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
den Bergen,J.C.; Rodrigues,M.; Roxburgh,R.; Lusakowska,A.; Kostera-Pruszczyk,A.; Zimowski,J.; Santos,R.; Neagu,E.; Artemieva,S.; Rasic,V.M.; Vojinovic,D.; Posada,M.; Bloetzer,C.; Jeannet,P.Y.; ...
The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia
Bayat,F.; I. De La Caridad Sarmiento; Ambrosini,A.; Ceradini,F.; Kimura,E.; van den Bergen,J.C.; Rodrigues,M.; Roxburgh,R.; Lusakowska,A.; Oliveira,J.; Santos,R.; Neagu,E.; Butoianu,N.; Artemieva,S.; ...