Spinal muscular atrophy (SMA) is an autosomal recessive genetic disorder leading to
paralysis, muscle atrophy, and death. Significant advances in antisense oligonucleotide …

The management of patients with spinal muscular atrophy type 1 (SMA1) is constantly
evolving. In just a few decades, the medical approach has switched from an exclusively …

Objective Onasemnogene abeparvovec, a one-time intravenous gene replacement therapy,
and nusinersen, an antisense oligonucleotide that requires ongoing intrathecal …

Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes
characterized by the gradual weakening and deterioration of muscles, often leading to …

Fatigue, a common symptom, together with the characteristic of performance fatigability, are
well-documented features of SMA that impact quality of life and function. Importantly …

Most research to characterise the molecular consequences of spinal muscular atrophy
(SMA) has focused on SMA I. Here, proteomic profiling of skin fibroblasts from severe (SMA …

Introduction Spinal muscular atrophy (SMA) can cause multiple system dysfunction,
especially lipid metabolic disorders, for which management strategies are currently lacking …

Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1
(SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular …

Homeostatic regulation of cellular and molecular processes is essential for the efficient
physiological functioning of body organs. It requires an intricate balance of several networks …

Background An increasing number of families with children who have spinal muscular
atrophy (SMA) are incorporating a special amino acid diet into their child's feeding regimens …