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 …
been described in this gene, most of which affect the expression of the muscle isoform, the …
Function and genetics of dystrophin and dystrophin-related proteins in muscle
DJ Blake, A Weir, SE Newey… - Physiological …, 2002 - journals.physiology.org
The X-linked muscle-wasting disease Duchenne muscular dystrophy is caused by mutations
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …
in the gene encoding dystrophin. There is currently no effective treatment for the disease; …
[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 …
that prevent the body-wide translation of its protein product, dystrophin. Besides a severe …
On the run for hippocampal plasticity
HY Moon, H van Praag - Cold Spring …, 2018 - perspectivesinmedicine.cshlp.org
Accumulating research in rodents and humans indicates that exercise benefits brain function
and may prevent or delay onset of neurodegenerative conditions. In particular, exercise …
and may prevent or delay onset of neurodegenerative conditions. In particular, exercise …
Brain function in Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is the second most commonly occurring genetically
inherited disease in humans. It is an X‐linked condition that affects approximately one in …
inherited disease in humans. It is an X‐linked condition that affects approximately one in …
[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 …
Duchenne muscular dystrophy (DMD) is known to be under genetic regulation. In this study …
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 …
Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy
M Chesshyre, D Ridout, Y Hashimoto… - Journal of Cachexia …, 2022 - Wiley Online Library
Background Duchenne muscular dystrophy (DMD) is caused by DMD mutations leading to
dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle …
dystrophin loss. Full‐length Dp427 is the primary dystrophin isoform expressed in muscle …
Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 …
F Daoud, N Angeard, B Demerre, I Martie… - Human molecular …, 2009 - academic.oup.com
The presence of variable degrees of cognitive impairment, extending from severe mental
retardation to specific deficits, in patients with dystrophinopathies is a well-recognized …
retardation to specific deficits, in patients with dystrophinopathies is a well-recognized …
Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy
P Melacini, M Fanin, GA Danieli, C Villanova… - Circulation, 1996 - Am Heart Assoc
Background Several cases of Becker's muscular dystrophy (BMD) have been reported,
which showed mild or subclinical skeletal muscle involvement with an overt dilated …
which showed mild or subclinical skeletal muscle involvement with an overt dilated …