Pathophysiology of duchenne muscular dystrophy: current hypotheses
N Deconinck, B Dan - Pediatric neurology, 2007 - Elsevier
Duchenne muscular dystrophy is a devastating inherited neuromuscular disorder that affects
one in 3300 live male births. Although the responsible gene and its product, dystrophin …
one in 3300 live male births. Although the responsible gene and its product, dystrophin …
Duchenne muscular dystrophy: pathogenesis and promising therapies
M Chang, Y Cai, Z Gao, X Chen, B Liu, C Zhang… - Journal of …, 2023 - Springer
Duchenne muscular dystrophy (DMD) is a severe, progressive, muscle-wasting disease,
characterized by progressive deterioration of skeletal muscle that causes rapid loss of …
characterized by progressive deterioration of skeletal muscle that causes rapid loss of …
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
MP Moizard, C Billard, A Toutain… - American journal of …, 1998 - Wiley Online Library
Molecular study and neuropsychological analysis were performed concurrently on 49
patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation …
patients with Duchenne muscular dystrophy (DMD) in order to find a molecular explanation …
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 …
Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development
R Sarig, V Mezger-Lallemand, I Gitelman… - Human Molecular …, 1999 - academic.oup.com
The dystrophin gene, which is defective in Duchenne muscular dystrophy (DMD), also
encodes a number of smaller products controlled by internal promoters. Dp71, which …
encodes a number of smaller products controlled by internal promoters. Dp71, which …
Emerging genetic therapies to treat Duchenne muscular dystrophy
These novel therapies that act to correct the primary genetic defect of dystrophin deficiency
are among the first generation of therapies tailored to correct specific mutations in humans …
are among the first generation of therapies tailored to correct specific mutations in humans …
Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy
Background: Mental retardation is a clinical feature of Duchenne dystrophy (DD) and affects
about one-third of patients. No clear association has been found between DNA mutations …
about one-third of patients. No clear association has been found between DNA mutations …
Duchenne muscular dystrophy: Disease mechanism and therapeutic strategies
A Bez Batti Angulski, N Hosny, H Cohen… - Frontiers in …, 2023 - frontiersin.org
Duchenne muscular dystrophy (DMD) is a severe, progressive, and ultimately fatal disease
of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. The identification …
of skeletal muscle wasting, respiratory insufficiency, and cardiomyopathy. The identification …
Duchenne muscular dystrophy and dystrophin: Pathogenesis and opportunities for treatment: Third in molecular medicine review series
Duchenne muscular dystrophy (DMD) is caused by mutations in the gene that encodes the
427‐kDa cytoskeletal protein dystrophin. Increased knowledge of the function of dystrophin …
427‐kDa cytoskeletal protein dystrophin. Increased knowledge of the function of dystrophin …
Deficiency of brain synaptic dystrophin in human Duchenne muscular dystrophy
TW Kim, K Wu, IB Black - Annals of neurology, 1995 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is characterized by a defect in dystrophin, a high
molecular weight protein that is located predominantly in muscle, but which has been …
molecular weight protein that is located predominantly in muscle, but which has been …