Duchenne muscular dystrophy (DMD), myotonic dystrophy type 1 (DM1), and spinal
muscular atrophy (SMA) are the most prevalent neuromuscular disorders (NMDs) in children …

The natural history of spinal muscular atrophy has been radically changed by the advent of
improved standards of care and the availability of disease-modifying therapies. The aim of …

Background Efficacy and safety of onasemnogene abeparvovec (OA) for Spinal Muscular
Atrophy infants under 7 months and< 8.5 kg has been reported in clinical trials. This study …

The ε4 allele of apolipoprotein E (APOE) is the strongest genetic risk factor for sporadic
Alzheimer's disease (AD). Knockdown of ε4 may provide a therapeutic strategy for AD, but …

Spinal muscular atrophy (SMA) is a neuromuscular disease resulting from mutations or
deletions in SMN1 that lead to progressive death of alpha motor neurons, ultimately leading …

One of the latest approved therapies for spinal muscular atrophy (SMA) is onasemnogene
abeparvovec, which transduces motor neurons with the survival of motor neuron gene. The …

Spinal muscular atrophy (SMA) is a leading genetic cause of infant mortality. The advent of
approved treatments for this devastating condition has significantly changed SMA patients' …

Intercellular communication between axons and Schwann cells is critical for attaining the
complex morphological steps necessary for axon maturation. In the early onset motor …

Spinal muscular atrophy (SMA) is an autosomal recessive disease with a high carrier
frequency. While current screening methods can identify 1+ 0 carriers, detecting 2+ 0 …

Splice-modulating antisense oligonucleotides (ASOs) offer treatment options for rare
neurological diseases, including those with very rare mutations, where patient-specific …