Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

Background There is an increasing number of papers reporting the real world use of
Nusinersen in different cohorts of SMA patients. Main body The aim of this paper was to …

Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort of
adult Italian patients with spinal muscular atrophy (SMA). Methods Inclusion criteria were:(1) …

Evidence for nusinersen administration in adult 5q spinal muscular atrophy (5q-SMA)
patients is scarce and based on real-world observational data. The present systematic …

Objective To determine whether serum creatine kinase activity (CK) and serum creatinine
concentration (Crn) are prognostic and predictive biomarkers for disease severity, disease …

Objective We report natural history data in a large cohort of 199 patients with spinal
muscular atrophy (SMA) type III assessed using the Hammersmith Functional Motor Scale …

Previous natural history studies suggest that type II SMA patients remain stable over one
year but show some progression over two years. Since nusinersen approval, there has been …

Objective We report longitudinal data from 144 type III SMA pediatric and adult patients
treated with nusinersen as part of an international effort. Methods Patients were assessed …

Nusinersen (Spinraza®) improves survival of infants with hereditary proximal spinal
muscular atrophy and motor function in children up to 12 years. Population-based …

Spinal muscular atrophy (SMA) is currently classified into five different subtypes, from the
most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function …