Background Ankle‐foot orthoses (AFO) are prescribed to manage difficulty walking due to
foot drop, bony foot deformities and poor balance. Traditional AFOs are handmade using …

The type I interferon system is integral to human antiviral immunity. However, inappropriate
stimulation or defective negative regulation of this system can lead to inflammatory disease. …

Charcot‐Marie‐Tooth disease ( CMT ) is a slowly progressive hereditary degenerative
disease and one of the most common neuromuscular disorders. Exercise may be beneficial to …

RNA exosomes are multi-subunit complexes conserved throughout evolution 1 and are
emerging as the major cellular machinery for processing, surveillance and turnover of a diverse …

Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous
group of disorders. A particularly severe subgroup first described in 1894, and subsequently …

Dominant congenital spinal muscular atrophy (DCSMA) is a disorder of developing anterior
horn cells and shows lower-limb predominance and clinical overlap with hereditary spastic …

Microtubules are essential components of axon guidance machinery. Among β-tubulin
mutations, only those in TUBB3 have been shown to cause primary errors in axon guidance. All …

Purpose Genetic variants causing aberrant premessenger RNA splicing are increasingly
being recognized as causal variants in genetic disorders. In this study, we devise standardized …

Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by
recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are …

Importance Disease severity of childhood Charcot-Marie-Tooth disease (CMT) has not been
extensively characterized, either within or between types of CMT to date. Objective To …