Neuromuscular disorders are characterized by impaired function of either muscle or motor neurons (neuromuscular junction). In this large family of disorders, we can include muscular dystrophies (and other muscle-related diseases), as well as nerve-affecting disorders. Spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS or motor neuron disease) are examples of disorders characterized by the loss of motor neurons with no known cure.

Over the years, several models from Drosophila and zebrafish to mouse, have been generated tackling different aspects of neuromuscular degeneration. Some of these models (Drosophila and zebrafish models) have been successfully used in high-throughput analyses to identify chemical compounds with possible relevance to human pathology. Other models have been used to address more fundamental questions, like the stability of the neuromuscular junction. However, the molecular mechanism underlying several of these neuromuscular disorders has not yet been fully elucidated.

The aim of this Methods Collection is to gather a variety of methods using animal models, as well as human-derived cells, to study various aspects of dystrophinopathies and nerve-and neuromuscular junction-affecting diseases.