Background Major efforts have been made in the last decade to develop and improve
therapies for proximal spinal muscular atrophy (SMA). The introduction of …

Glutamine is a multifaceted amino acid used for hepatic urea synthesis, renal
ammoniagenesis, gluconeogenesis in both liver and kidney, and as a major respiratory fuel …

Abstract SPR1NT (NCT03505099) was a Phase III, multicenter, single-arm study to
investigate the efficacy and safety of onasemnogene abeparvovec for presymptomatic …

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder
characterized by the degeneration of lower motor neurons (MNs) in the spinal cord and …

Progressive cell loss in specific neuronal populations often associated with typical
cytoskeletal protein aggregations is a pathological hallmark of neurodegenerative disorders …

The hallmark of spinal muscular atrophy (SMA), an inherited disease caused by ubiquitous
deficiency in the SMN protein, is the selective degeneration of subsets of spinal motor …

Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by
recessive mutations in the SMN1 gene, globally affecting~ 8–14 newborns per 100,000. The …

β-Hydroxy-β-methylbutyrate (HMB) is a leucine metabolite shown to reduce protein
catabolism in disease states and promote skeletal muscle hypertrophy in response to …

Spinal Muscular Atrophy (SMA) is monogenic motoneuron disease caused by low levels of
the Survival of Motoneuron protein (SMN). Recently, two different drugs were approved for …

Ubiquitous deficiency in the survival motor neuron (SMN) protein causes death of motor
neurons—a hallmark of the neurodegenerative disease spinal muscular atrophy (SMA) …