Duchenne muscular dystrophy (DMD) is a rare, severe, progressive muscle-wasting disease
leading to disability and premature death. Patients lack the muscle membrane-stabilizing …

Alternative pre-mRNA splicing is a tightly controlled process conducted by the spliceosome,
with the assistance of several regulators, resulting in the expression of different transcript …

Duchenne muscular dystrophy (DMD) is a fatal genetic disorder characterized by
progressive muscle wasting that has currently no cure. Exon-skipping strategy represents …

Introduction Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused
by mutations in the dystrophin (DMD) gene. Most patients die from respiratory failure or …

Clinical severity and treatment response vary significantly between patients with spinal
muscular atrophy. The approval of therapies and the emergence of neonatal screening …

FacioScapuloHumeral muscular Dystrophy (FSHD) is one of the most prevalent hereditary
myopathies and is generally characterized by progressive muscle atrophy affecting the face …

Objective: Alternative splicing can generate various structural and functional protein
isoforms. Recently, accumulating evidence shows a relationship between alternative …

A genetic contribution to psychiatric disorders has clearly been established and genome‐
wide association studies now provide the location of risk genes and genetic variants …

Antisense oligonucleotide (AO)-mediated splice modulation has been established as a
therapeutic approach for tackling genetic diseases. Recently, Exondys51, a drug that aims to …

Background Dystrophinopathies are a set of severe and incurable X-linked neuromuscular
disorders caused by mutations in the dystrophin gene (DMD). These mutations form a …