Association Francaise contre les Myopathies

Recent papers from Association Francaise contre les Myopathies

1. Bridging the translational gap in drug repurposing for rare diseases: clinical success versus regulatory conversionDrug Discovery Today · 2026
2. Reinvigorating the possibilities: Drug repurposing as a strategic access pathway for rare diseasesTranslational Science of Rare Diseases · 2026
3. Tipping Points in Bacterial Richness Amplify Extracellular Enzyme Activities in Northern PeatlandsGlobal Change Biology · 2026
4. Why is family disclosure of genetic risk so difficult? A collaborative analysis of 685 rare-disease patient experiencesEuropean Journal of Human Genetics · 2026
5. Impact of fatigue and disability on health-related quality of life in CIDP: Results from an international surveyClinical Neurology and Neurosurgery · 2026
6. Facilitators and barriers to exercise in autoimmune myasthenia gravis: A cross-sectional survey studyJournal of Neuromuscular Diseases · 2026
7. Cardiac Outcomes in Adults With Mitochondrial DiseasesJournal of the American College of Cardiology · 2022
8. Life expectancy of people with hemophilia in France in 2022European Journal of Epidemiology · 2026
9. Exploring patients' and caregivers' experience of therapeutic patient education in rare diseases: A qualitative studyPatient Education and Counseling · 2026
10. Protection of fundamental human rights by improving patient access to plasma‐derived therapies and donor health protectionVox Sanguinis · 2026
11. Laminopathies: natural history and risk prediction of heart failure.2026
12. The journey to diagnosis for patients with CIDP: results from a real-world international surveySHILAP Revista de lepidopterología · 2026
13. Combined adapted physical activity and art-therapy intervention in myasthenia gravis: Study protocol for a randomized crossover pilot trialContemporary Clinical Trials · 2026
14. A workshop on citizen science in radioactivity measurements: Empowering Europeans for better environmental monitoringJournal of Radiological Protection · 2026
15. A Bench Evaluation of the Effects of Circuit Configurations on Instrumental Dead Space During Home Mechanical VentilationRespiratory Care · 2026
16. Basket trials in rare diseases: a systematic review of current practices, methodological challenges, and future directionsOrphanet Journal of Rare Diseases · 2025
17. Dose- and genotype-dependent cardiac arrhythmia and sudden death in rats following microdystrophin gene therapyMolecular Therapy · 2025
18. Size-dependent immunomodulation by MSC secretome: soluble factors target innate pathways, components larger than 100 kDa regulate T cell proliferationStem Cell Research & Therapy · 2025
19. The Lived Experience of Pediatric Gene Therapy Clinical Trial in Duchenne Muscular Dystrophy: Exploring Perceptions of Parents and Professionals Using Social Representation MethodHuman Gene Therapy · 2025
20. Navigating the Transition From Adolescence to Adulthood Among Young People With Severe Haemophilia: The Qualitative Phase of the TRANSHEMO ProjectHaemophilia · 2025