Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

Efficacy of ephedrine treatment in COLQ-related Congenital Myasthenic Syndrome (CMS): longitudinal quantitative assessment in a 71-year-old man.

Pub Date : 2024-09-01 DOI: 10.36185/2532-1900-502 Giulio Gadaleta, Guido Urbano, Enrica Rolle, Ana Töpf, Liliana Vercelli

The Epigenetic Rescue of Dystrophin Dysfunction study of givinostat in ambulatory Duchenne muscular dystrophy patients.

Pub Date : 2024-09-01 DOI: 10.36185/2532-1900-637 Luca Bello, Valeria Sansone, Riccardo Masson, Claudio Bruno

Abnormal expression of myosin heavy chains in early postnatal stages of spinal muscular atrophy type I at single fibre level.

Pub Date : 2024-09-01 DOI: 10.36185/2532-1900-558 Carola Hedberg-Oldfors, Elizabeth Jennions, Kittichate Visuttijai, Anders Oldfors