…of ambulation. The publication Bisphosphonates in Glucocorticoid-Treated Patients with Duchenne Muscular Dystrophy: A Systematic Review and Grading of the Evidence addresses the need for a modern, comprehensive understanding of the…

…are available to treat CMS, but to select the best drug we need to understand the underlying genetic mutation and its effect on neuromuscular transmission. We currently know about 35…

…1 (DM1) and suggests that it may serve as a novel stratification biomarker for DM1 with clinical and pathophysiological relevance, correlating with disease severity, presence of cardiac malfunction, and fibrosis….

…muscular dystrophy (DMD) (pediatric), Facioscapulohumeral muscular dystrophy (FSHD) (adult), and inflammatory myopathy (adult). We are expecting additional trials for Myotonic dystrophy to open in early 2024. A complete list of…

…information system implementation (Project Fusion) for The Ottawa Hospital and Atlas Alliance hospitals, focusing on launching the Epic research module for Coordinators and Clinicians at the Ottawa Hospital Research Institute….

…with unsolved inherited NMDs using RD-Connect Genome Phenome Analysis Platform (GPAP). A reproducible analysis and interpretation workflow will be developed for non-coding variants. This research work will not only directly…

…the gamma-subunit of the acetylcholine receptor. In humans, the gamma subunit is only expressed before birth and for a short time afterwards. Biallelic loss-of-function mutations are believed to cause neuromuscular…

…dystrophinopathies (DMD and Becker muscular dystrophy) and SMA born between 1995 and 2018. We invited all neuromuscular centers, genetic institutes and the patient registries for DMD and SMA in Germany…

…and included sites across Canada in Montreal, Calgary, and Ottawa. While the results from this study did not display the outcome that many were hoping for, the organization and delivery…