Muscular dystrophy (MD) is a group of progressive genetic diseases affecting the
musculature that are characterized by inflammatory infiltrates, necrosis and connective …

In 1995, we were the first to propose antisense oligonucleotide (ASO)-mediated exon-
skipping therapy for the treatment of Duchenne muscular dystrophy (DMD), a noncurable …

Clinical implementation of two recently approved antisense RNA therapeutics–Exondys51®
to treat Duchenne muscular dystrophy (Duchenne MD) and Spinraza® as a treatment for …

Exon skipping is a therapeutic approach that is feasible for various genetic diseases and
has been studied and developed for over two decades. This approach uses antisense …

Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF
gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different …

Dysferlinopathy is a progressive myopathy caused by mutations in the dysferlin (DYSF)
gene. Dysferlin protein plays a major role in plasma-membrane resealing. Some patients …

Loss-of-function mutations in USH2A are among the most common causes of syndromic and
non-syndromic retinitis pigmentosa (RP). We previously presented skipping of USH2A exon …

Muscular dystrophy is a group of genetic disorders characterised by degeneration of
muscles. Different forms of muscular dystrophy can show varying phenotypes with a wide …

This is a review describing advances in CRISPR/Cas-mediated therapies for neuromuscular
disorders (NMDs). We explore both CRISPR-mediated editing and dead Cas approaches as …

Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations
in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin …