Brain dystrophin, neurogenetics and mental retardation
MF Mehler - Brain Research Reviews, 2000 - Elsevier
Duchenne muscular dystrophy (DMD) and the allelic disorder Becker muscular dystrophy
(BMD) are common X-linked recessive neuromuscular disorders that are associated with a …
(BMD) are common X-linked recessive neuromuscular disorders that are associated with a …
Dystrophin Dp71: the smallest but multifunctional product of the Duchenne muscular dystrophy gene
R Tadayoni, A Rendon, LE Soria-Jasso… - Molecular …, 2012 - Springer
Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and is the
main Duchenne muscular dystrophy (DMD) gene product in brain. As full-length dystrophin …
main Duchenne muscular dystrophy (DMD) gene product in brain. As full-length dystrophin …
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 …
[HTML][HTML] Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy
Y Hashimoto, H Kuniishi, K Sakai, Y Fukushima… - Progress in …, 2022 - Elsevier
Duchenne muscular dystrophy (DMD) is a muscle disorder caused by DMD mutations and is
characterized by neurobehavioural comorbidities due to dystrophin deficiency in the brain …
characterized by neurobehavioural comorbidities due to dystrophin deficiency in the brain …
Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy
DL Sherman, C Fabrizi, CS Gillespie, PJ Brophy - Neuron, 2001 - cell.com
Dystroglycan-dystrophin complexes are believed to have structural and signaling functions
by linking extracellular matrix proteins to the cytoskeleton and cortical signaling molecules …
by linking extracellular matrix proteins to the cytoskeleton and cortical signaling molecules …
[HTML][HTML] Dystrophin 71 deficiency causes impaired aquaporin-4 polarization contributing to glymphatic dysfunction and brain edema in cerebral ischemia
J Yang, C Cao, J Liu, Y Liu, J Lu, HY Yu, X Li… - Neurobiology of …, 2024 - Elsevier
Objective The glymphatic system serves as a perivascular pathway that aids in clearing
liquid and solute waste from the brain, thereby enhancing neurological function. Disorders in …
liquid and solute waste from the brain, thereby enhancing neurological function. Disorders in …
Assessing mental health in boys with Duchenne muscular dystrophy: Emotional, behavioural and neurodevelopmental profile in an Italian clinical sample
P Colombo, M Nobile, A Tesei, F Civati… - European Journal of …, 2017 - Elsevier
Objective To evaluate through a comprehensive protocol, the psychopathological profile of
DMD boys. The primary aim of this observational study was to describe the emotional and …
DMD boys. The primary aim of this observational study was to describe the emotional and …
Targeted inactivation of dystrophin gene product Dp71: phenotypic impact in mouse retina
The abnormal retinal neurotransmission observed in Duchenne muscular dystrophy (DMD)
patients and in some genotypes of mice lacking dystrophin has been attributed to altered …
patients and in some genotypes of mice lacking dystrophin has been attributed to altered …
Dystroglycan in development and disease
M Durbeej, MD Henry, KP Campbell - Current opinion in cell biology, 1998 - Elsevier
Our understanding of the structure and function of dystroglycan, a cell surface laminin/agrin
receptor, has increased dramatically over the past two years. Structural studies, analysis of …
receptor, has increased dramatically over the past two years. Structural studies, analysis of …
Severe cognitive impairment in DMD: obvious clinical evidence for Dp71 isoform point mutations screening
MP Moizard, A Toutain, D Fournier, F Berret… - European Journal of …, 2000 - nature.com
Duchenne muscular dystrophy is associated with variable degrees of selective cognitive
defect with lower scores for verbal intelligence and reading abilities. A number of findings …
defect with lower scores for verbal intelligence and reading abilities. A number of findings …