Heart failure (HF) is a complex syndrome affecting millions of people around the world. Over
the past decade, the therapeutic potential of targeting epigenetic regulators in HF has been …

For patients diagnosed with a rare musculoskeletal or neuromuscular disease, pain may
transition from acute to chronic; the latter yielding additional challenges for both patients and …

In this review, we discuss the therapies used in the treatment of patients with Duchenne
muscular dystrophy since the first description of the disease. A short description is given of …

Introduction Duchenne muscular dystrophy (DMD) is a progressive genetic disease
characterized by muscular weakness with a global prevalence of 7.1 cases per 100,000 …

Abstract Duchenne Muscular Dystrophy (DMD) is a progressive lethal disease caused by X-
linked mutations of the dystrophin gene. Dystrophin deficiency clinically manifests as …

Background Duchenne muscular dystrophy (DMD) is an X‐linked recessive disorder
characterised by progressive muscle weakness beginning in early childhood. Respiratory …

Nonsense suppression therapy (NST) utilizes compounds such as PTC124 (Ataluren) to
induce translational read-through of stop variants by promoting the insertion of near …

Position Statement:Emerging genetic therapies for rare disorders | Journal of the International
Child Neurology Association Quick jump to page content Main Navigation Main Content Sidebar …

La distrofia muscular Duchenne (DMD) epidemiológicamente es la forma más común y
grave de distrofia muscular y se produce en 1 de cada 3,500 varones nacidos. La …

[cat] Els trastorns neuromusculars pediàtrics són malalties minoritàries causades per un
gran nombre de gens, molts d'ells de gran mida i d'estructura complexa, fet que dificulta …