Spinal muscular atrophy (SMA) is a progressive, recessively inherited neuromuscular
disease, characterized by the degeneration of lower motor neurons in the spinal cord and …

Spinal muscular atrophy (SMA) is a lower motor neuron disease with autosomal recessive
inheritance. The first cases of SMA were reported by Werdnig in 1891. Although the …

Opinion statement Spinal muscular atrophy is caused by mutations in the survival motor
neuron 1 (SMN1) gene, leading to the reduction of SMN protein. The loss of alpha motor …

Spinal muscular atrophies (SMA) are characterized by degeneration of lower motor neurons
associated with muscle paralysis and atrophy. Childhood SMA is a frequent recessive …

Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease and
the most common genetic cause of infant mortality, affecting∼ 1 in 10,000 live births. The …

Bench to bedside progress has been widely anticipated for a growing number of
neurodegenerative disorders. Of these, spinal muscular atrophy (SMA) is perhaps the best …

Spinal muscular atrophy (SMA) is a potentially devastating and lethal neuromuscular
disease frequently manifesting in infancy and childhood. The discovery of the underlying …

Understanding the events that are responsible for a disease is mandatory for setting up a
therapeutic strategy. Although spinal muscular atrophy (SMA) is considered a rare …

Objective We investigated the presence of non-neuromuscular phenotypes in patients
affected by Spinal Muscular Atrophy (SMA), a disorder caused by a mutation in the Survival …

Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative
disease that leads to infant mortality worldwide. SMA is caused by genetic deletion or …