VERRIELLO L

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a heterogeneous genetic back-ground. Because mutation analysis by Sanger sequencing is costly and time-consuming, in recent years,next-generation sequencing (NGS) techniques have become of much interest. This study analyses theresults of 20 years of molecular analyses in...

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) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at...