Regulation of GABAA receptor trafficking, channel activity, and functional plasticity of inhibitory synapses
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 …
(GABAA) receptors. Different subtypes of these receptors, distinguished by their subunit …
Cognitive profile and neuropsychiatric disorders in Becker muscular dystrophy: a systematic review of literature
A Ferrero, M Rossi - Neuroscience & Biobehavioral Reviews, 2022 - Elsevier
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 …
cognitive, behavioral and psychosocial functioning of patients with BMD. Methods The …
Dystrophin expression in muscle stem cells regulates their polarity and asymmetric division
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 …
integrity, and loss-of-function mutations in the gene that encodes it result in Duchenne …
Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy
PJ Taylor, GA Betts, S Maroulis, C Gilissen… - PloS one, 2010 - journals.plos.org
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 …
Duchenne muscular dystrophy (DMD) is known to be under genetic regulation. In this study …
Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy
K Wingeier, E Giger, S Strozzi, R Kreis… - Journal of clinical …, 2011 - Elsevier
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 …
retardation. However, for reasons that are unclear, some boys with dystrophin mutations do …
The lived experience of hope among parents of a child with Duchenne muscular dystrophy: perceiving the human being beyond the illness
A Samson, E Tomiak, J Dimillo, R Lavigne… - Chronic …, 2009 - journals.sagepub.com
Objectives: Duchenne muscular dystrophy (DMD) is genetically determined, progressive
and incurable. Our study's primary objective was to describe the lived experience of hope …
and incurable. Our study's primary objective was to describe the lived experience of hope …
Global prevalence of intellectual developmental disorder in dystrophinopathies: A systematic review and meta‐analysis
C Pascual‐Morena, I Cavero‐Redondo… - … Medicine & Child …, 2023 - Wiley Online Library
Aim To estimate the global prevalence of intellectual developmental disorder (IDD) and the
IDD prevalence–genotype association in Becker muscular dystrophy (BMD) or Duchenne …
IDD prevalence–genotype association in Becker muscular dystrophy (BMD) or Duchenne …
A novel custom high density-comparative genomic hybridization array detects common rearrangements as well as deep intronic mutations in dystrophinopathies
M Bovolenta, M Neri, S Fini, M Fabris, C Trabanelli… - BMC genomics, 2008 - Springer
Background The commonest pathogenic DMD changes are intragenic
deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) …
deletions/duplications which make up to 78% of all cases and point mutations (roughly 20%) …
Neurodevelopmental, behavioral, and emotional symptoms in Becker muscular dystrophy
JT Lambert, AJ Darmahkasih, PS Horn… - Muscle & …, 2020 - Wiley Online Library
Introduction Becker muscular dystrophy (BMD) results in decreased dystrophin with
implications for mental health. Methods This is a retrospective case series of …
implications for mental health. Methods This is a retrospective case series of …
The use of the Cambridge Neuropsychological Test Automated Battery (CANTAB) in neuropsychological assessment: application in Brazilian research with control …
DT Roque, RAA Teixeira, EC Zachi… - Psychology & …, 2011 - SciELO Brasil
Computerized neuropsychological tests can be effective and have many benefits. This paper
addresses these issues using the computer-based Cambridge Neuropsychological Test …
addresses these issues using the computer-based Cambridge Neuropsychological Test …