Muscular Dystrophy UK

Recent papers from Muscular Dystrophy UK

1. Spatial transcriptomics reveals early and progressive molecular changes in late-onset Pompe disease muscleActa Neuropathologica Communications · 2026
2. Generalizable lower-limb muscle MRI segmentation and quantification on heterogeneous multisite datasetsScientific Reports · 2026
3. UK SMA patient registry: a 3-year patient-reported outcome measures study supporting the drug appraisal of Nusinersen and Risdiplam in spinal muscular atrophyJournal of the Neurological Sciences · 2026
4. Lipodystrophy: A Quantitative Assessment of Patient Journeys to Diagnosis in the UKRare · 2026
5. Recommendations for the use of clinical outcome assessments in rare disease drug developmentEClinicalMedicine · 2026
6. A disease progression model comparing the long-term mobility and respiratory outcomes of adults with late-onset Pompe disease receiving cipaglucosidase alfa plus miglustat versus alglucosidase alfaJournal of Comparative Effectiveness Research · 2026
7. Evaluation of a serum protein signature as monitoring biomarker for Duchenne muscular dystrophy in a long-term clinical trial with corticosteroidsSkeletal Muscle · 2026
8. A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative StrategiesInternational Journal of Molecular Sciences · 2026
9. Patient Preferences in Neuromuscular Diseases: Insights for Future Drug Development2026
10. Vamorolone for Duchenne Muscular DystrophyNeurology · 2026
11. Cardiac MRI in cardiac dystrophinopathy: recommendations on imagingOpen Heart · 2026
12. Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophiesThe Journal of Pathology · 2026
13. TREAT-NMD advisory committee for therapeutics: Preclinical and clinical learnings from 15 years of TACTJournal of Neuromuscular Diseases · 2026
14. Sensory neuronopathy secondary to gene therapy with AT845 for Pompe diseaseNeuromuscular Disorders · 2026
15. Bridging science and hope: the evolving story of gene therapy for neuromuscular diseasesFrontiers in Cell and Developmental Biology · 2026
16. Phenotypic characterization of dominantly inherited distal nebulin myopathyNeuromuscular Disorders · 2026
17. Impact of C4BPA on Muscle progenitor cell differentiation: insights for Duchenne muscular dystrophy treatmentCell Death and Disease · 2026
18. Adult SMA REACH: A UK clinical network and real-world data collection study for adults living with spinal muscular atrophyJournal of Neuromuscular Diseases · 2026
19. Gait analysis reveals new outcome measures for monitoring disease progression in individuals with late-onset Pompe diseaseJournal of NeuroEngineering and Rehabilitation · 2026
20. Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe diseaseNeuromuscular Disorders · 2026