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 …

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 …

Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies

A Bardoni, G Felisari, M Sironi, G Comi, M Lai… - Neuromuscular …, 2000 - Elsevier
Mental retardation is a clinical feature present in both Duchenne and Becker muscular
dystrophy patients and its pathogenesis is still unknown. Dp140 is a dystrophin isoform with …

[HTML][HTML] Neurocognitive profiles in Duchenne muscular dystrophy and gene mutation site

MG D'Angelo, ML Lorusso, F Civati, GP Comi, F Magri… - Pediatric …, 2011 - Elsevier
The presence of nonprogressive cognitive impairment is recognized as a common feature in
a substantial proportion of patients with Duchenne muscular dystrophy. To investigate the …

Loss of Dp140 dystrophin isoform and intellectual impairment in Duchenne dystrophy

G Felisari, FM Boneschi, A Bardoni, M Sironi, GP Comi… - Neurology, 2000 - AAN Enterprises
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 …

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 …

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 …

Automated sequence screening of the entire dystrophin cDNA in Duchenne dystrophy: point mutation detection

SA Hamed, EP Hoffman - … Journal of Medical Genetics Part B …, 2006 - Wiley Online Library
This is the first report of direct sequencing of the complete 11 kb coding sequence of the
dystrophin gene affording high sensitivity for all types of mutations of both coding sequence …

Dystrophin deletions and cognitive impairment in Duchenne/Becker muscular dystrophy

G Florencia, F Verónica, D Viviana… - Neurological research, 2004 - Taylor & Francis
Analyses of deletions in the dystrophin gene and of cognitive status were performed on
patients with Duchenne (DMD) or Becker (BMD) muscular dystrophy in order to find a …

Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients

U Lenk, R Hanke, H Thiele… - Human molecular …, 1993 - academic.oup.com
Duchenne and Becker muscular dystrophies (DMD/BMD) are caused by mutations in the
human dystrophin gene. About two-thirds of DMD/BMD patients exhibit gross …