Duchenne muscular dystrophy (DMD) is a progressive muscle-wasting disorder. It is caused
by loss-of-function mutations in the dystrophin gene. Currently, there is no cure. A highly …

Duchenne muscular dystrophy (DMD) is caused by frameshift mutations in the DMD gene
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …

Aim Duchenne muscular dystrophy (DMD) is associated with neuropsychiatric disorders.
The aim of the study was to characterize the DMD neuropsychiatric profile fully and to …

Background Intellectual disability (ID) is characterised by an extreme genetic heterogeneity.
Several hundred genes have been associated to monogenic forms of ID, considerably …

The prion glycoprotein (PrPC) is mostly located at the cell surface, tethered to the plasma
membrane through a glycosyl-phosphatydil inositol (GPI) anchor. Misfolding of PrPC is …

In addition to muscle disease, defects in processing and assembly of the dystrophin–
glycoprotein complex (DGC) are associated with a spectrum of brain abnormalities ranging …

Dystrophinopathies result from mutations of the DMD gene that primarily affect skeletal
muscle but also affect heart, brain, and smooth muscle. Advances in the genetic analysis of …

Background A significant component of the variation in cognitive disability that is observed in
Duchenne muscular dystrophy (DMD) is known to be under genetic regulation. In this study …

Aim: Strategic Targeting of Registries and International Database of Excellence (STRIDE) is
an ongoing, multicenter registry providing real-world evidence regarding ataluren use in …

OBJECTIVES: To assess attention deficit hyperactivity disorder (ADHD) in boys affected by
Duchenne muscular dystrophy (DMD) and to explore the relationship with cognitive abilities …