Eugenio Mercuri

Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

E. Bertini, B. Giusti, E. Mercuri, 2005, Neurology.

Safety and efficacy of givinostat in boys with Duchenne muscular dystrophy (EPIDYS): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

G. Acsadi, M. Scoto, E. Finanger, 2024, The Lancet Neurology.

Spinal muscular atrophy

F. Tiziano, Eugenio Mercuri, Adele D'Amico, 2011, Orphanet journal of rare diseases.

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

D. D. De Vivo, K. Benguerba, Janbernd Kirschner, 2024, Journal of neuromuscular diseases.

Therapeutic Role of Nusinersen on Respiratory Progression in Pediatric Patients With Spinal Muscular Atrophy Type 2 and Nonambulant Type 3.

M. Scoto, Claudio Bruno, D. D. De Vivo, 2024, Neurology. Clinical practice.

SUNFISH Part 2: Efficacy and Safety of Risdiplam (RG7916) in Patients with Type 2 or Non-Ambulant Type 3 Spinal Muscular Atrophy (SMA) (1260)

E. Mazzone, A. Kostera-Pruszczyk, K. Gorni, 2020, Neurology.