The term “neurodegenerative diseases”(NDs) identifies a group of heterogeneous diseases
characterized by progressive loss of selectively vulnerable populations of neurons, which …

Objective The aim of this study was to provide an overview of the clinical phenotypes
associated with 4 SMN2 copies. Methods Clinical phenotypes were analyzed in all the …

Objective To review the clinical characteristics and effect of treatment in patients with spinal
muscular atrophy (SMA) and three copies of the SMN2 gene. Methods We conducted a …

Newborn screening for 5qSMA offers the potential for early, ideally pre-symptomatic,
therapeutic intervention. However, limited data exist on the outcomes of individuals with 4 …

BACKGROUND: Sex is a significant risk factor in many neurodegenerative disorders. A
better understanding of the molecular mechanisms behind sex differences could help …

Introduction Spinal muscular atrophy (SMA) is a severe genetic neuromuscular disease
characterized by a loss of motor neurons and progressive muscle weakness. Children with …

Background Spinal muscular atrophy (SMA) is a neuromuscular disease, causing
progressive muscle weakness due to loss of lower motoneurons. Since 2017, three …

Due to poor data in literature, we aimed to investigate the respiratory function in a large
cohort of naïve Italian adult (≥ 18 years) SMA patients in a multi-centric cross-sectional …

I am writing to offer my critique of the recent study titled “5qSMA: standardized retrospective
natural history assessment in 268 patients with four copies of SMN2”[1]. This study provides …

Spinal muscular atrophy (SMA) is an autosomal recessive disease that affects 1 out of every
6,000-10,000 individuals at birth, making it the leading genetic cause of infant mortality. In …