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

Huntington's disease is the most frequent autosomal dominant neurodegenerative disorder;
however, no disease-modifying interventions are available for patients with this disease. The …

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …

Histone deacetylases (HADC) are the enzymes that remove acetyl group from lysine residue
of histones and non-histone proteins and regulate the process of transcription by binding to …

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 …

Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the
most severe cases and when left untreated, leads to death within the first two years of life …

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) …

Background Coformulated sodium phenylbutyrate/taurursodiol (PB/TURSO) was shown to
prolong survival and slow functional decline in amyotrophic lateral sclerosis (ALS). Objective …

Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen
in children (two SMN2 copies, n= 15; three SMN2 copies, n= 10) who initiated treatment in …

Spinal muscular atrophy (SMA) used to be one of the most common genetic causes of infant
mortality. New disease modifying treatments have changed the disease trajectories and …