Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy

JW McGreevy, CH Hakim… - Disease models & …, 2015 - journals.biologists.com
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 …

Dystrophin and mutations: one gene, several proteins, multiple phenotypes

F Muntoni, S Torelli, A Ferlini - The Lancet Neurology, 2003 - thelancet.com
A large and complex gene on the X chromosome encodes dystrophin. Many mutations have
been described in this gene, most of which affect the expression of the muscle isoform, the …

[HTML][HTML] Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy

M Naidoo, K Anthony - Molecular Neurobiology, 2020 - Springer
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 …

Cognitive and neurobehavioral profile in boys with Duchenne muscular dystrophy

R Banihani, S Smile, G Yoon, A Dupuis… - Journal of child …, 2015 - journals.sagepub.com
Duchenne muscular dystrophy is a progressive neuromuscular condition that has a high rate
of cognitive and learning disabilities as well as neurobehavioral disorders, some of which …

[HTML][HTML] Genetic variation in the 6p22. 3 gene DTNBP1, the human ortholog of the mouse dysbindin gene, is associated with schizophrenia

RE Straub, Y Jiang, CJ MacLean, Y Ma… - The American Journal of …, 2002 - cell.com
Prior evidence has supported the existence of multiple susceptibility genes for
schizophrenia. Multipoint linkage analysis of the 270 Irish high-density pedigrees that we …

Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients

S Cotton, NJ Voudouris… - … medicine and child …, 2001 - cambridge.org
Intelligence and Duchenne muscular dystrophy: Full-Scale, Verbal, and Performance
intelligence quotients Page 1 Developmental Medicine & Child Neurology 2001, 43: 497–501 …

Dystrophinopathies

BT Darras, CC Menache-Starobinski, V Hinton… - … disorders of Infancy …, 2015 - Elsevier
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 …

Neuropsychological and neurobehavioral functioning in Duchenne muscular dystrophy: a review

WM Snow, JE Anderson, LS Jakobson - Neuroscience & Biobehavioral …, 2013 - Elsevier
Duchenne muscular dystrophy (DMD) is a genetic condition affecting predominantly boys
that is characterized by fatal muscle weakness. While there is no cure, recent therapeutic …

[HTML][HTML] 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 …

Attention deficit hyperactivity disorder and cognitive function in Duchenne muscular dystrophy: phenotype-genotype correlation

M Pane, ME Lombardo, P Alfieri, A D'Amico… - The Journal of …, 2012 - Elsevier
OBJECTIVES: To assess attention deficit hyperactivity disorder (ADHD) in boys affected by
Duchenne muscular dystrophy (DMD) and to explore the relationship with cognitive abilities …