Spinal muscular atrophy (SMA), a prominent genetic disease of infant mortality, is caused by
low levels of survival motor neuron (SMN) protein owing to deletions or mutations of the …

Until the recent development of disease-modifying therapeutics, spinal muscular atrophy
(SMA) was considered a devastating neuromuscular disease with a poor prognosis for most …

The development of antisense oligonucleotide therapy is an important advance in the
identification of corrective therapy for neuromuscular diseases, such as spinal muscular …

Spinal muscular atrophy (SMA) is a motor neuron disease. Nusinersen, a splice-switching
antisense oligonucleotide (ASO), was the first approved drug to treat SMA. Based on prior …

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by reduced survival
motor neuron (SMN) protein. Recently, SMN dysfunction has been linked to individual …

The neuromuscular junction (NMJ) is the peripheral synapse formed between a motor
neuron axon terminal and a muscle fibre. NMJs are thought to be the primary site of …

Androgens and androgen-related molecules exert a plethora of functions across different
tissues, mainly through binding to the transcription factor androgen receptor (AR). Despite …

Spinal muscular atrophy (SMA) is a severe, monogenetic, neuromuscular disease. A
thorough understanding of its genetic cause and the availability of robust models has led to …

Introduction Spinal muscular atrophy (SMA) is caused by low levels of the Survival Motor
Neuron (SMN) protein due to deletions of or mutations in the SMN1 gene. Humans carry …

Spinal bulbar muscular atrophy (SBMA) is a progressive, late onset neuromuscular disease
causing motor dysfunction in men. While the morphology of the neuromuscular junction …