Neural inhibition in the brain is mainly mediated by ionotropic γ-aminobutyric acid type A
(GABAA) receptors. Different subtypes of these receptors, distinguished by their subunit …

Background Brain co-morbidities in DMD are well-documented, less is known about the
cognitive, behavioral and psychosocial functioning of patients with BMD. Methods The …

Dystrophin is expressed in differentiated myofibers, in which it is required for sarcolemmal
integrity, and loss-of-function mutations in the gene that encodes it result in Duchenne …

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 …

Mutations in the dystrophin gene have long been recognised as a cause of mental
retardation. However, for reasons that are unclear, some boys with dystrophin mutations do …

Objectives: Duchenne muscular dystrophy (DMD) is genetically determined, progressive
and incurable. Our study's primary objective was to describe the lived experience of hope …

Aim To estimate the global prevalence of intellectual developmental disorder (IDD) and the
IDD prevalence–genotype association in Becker muscular dystrophy (BMD) or Duchenne …

Background The commonest pathogenic DMD changes are intragenic
deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) …

Introduction Becker muscular dystrophy (BMD) results in decreased dystrophin with
implications for mental health. Methods This is a retrospective case series of …

Computerized neuropsychological tests can be effective and have many benefits. This paper
addresses these issues using the computer-based Cambridge Neuropsychological Test …