Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases
with progressive weakness of skeletal and respiratory muscles, leading to significant …

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 …

Most children with biallelic SMN1 deletions and three SMN2 copies develop spinal muscular
atrophy (SMA) type 2. SPR1NT (NCT03505099), a Phase III, multicenter, single-arm trial …

Adeno-associated virus (AAV) gene therapies are highly promising, such as the
onasemnogene abeparvovec (Zolgensma) in spinal muscle atrophy (SMA). We report the …

Spinal muscular atrophy (SMA) is a rare and devastating disease. New disease-modifying
treatments have recently been approved and early treatment has been related to a better …

Spinal muscular atrophy type 1 (SMA1) is a debilitating neurodegenerative disease resulting
from survival motor neuron 1 gene (SMN1) deletion/mutation. Onasemnogene abeparvovec …

Spinal muscular atrophy is an autosomal recessive disorder characterised by degeneration
of motor neurons in the spinal cord and is caused by mutations of the survival of motor …

The natural history of SMA is complex and variable. For this reason, clinical subgroups have
been defined based upon best motor function attainment during development. Type 1 SMA …

Background Spinal muscular atrophy (SMA) is a rare and devastating condition for which
new disease-modifying treatments have recently been approved. Given the increasing …

Spinal muscular atrophy is one of the most common neuromuscular disorders of childhood
and has high morbidity and mortality. Three different disease-modifying treatments were …