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 …

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 …

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 …

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 …

[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 …

The shortest isoform of dystrophin (Dp40) interacts with a group of presynaptic proteins to form a presumptive novel complex in the mouse brain

T Tozawa, K Itoh, T Yaoi, S Tando, M Umekage… - Molecular …, 2012 - Springer
Duchenne muscular dystrophy (DMD) causes cognitive impairment in one third of the
patients, although the underlying mechanisms remain to be elucidated. Recent studies …

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 …

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 …

Subcellular localization of Dp71 dystrophin isoforms in cultured hippocampal neurons and forebrain astrocytes

V Aleman, B Osorio, O Chavez, A Rendon… - Histochemistry and cell …, 2001 - Springer
It has been suggested that the absence or altered structure of Dp71, a C-terminal dystrophin
gene encoded protein, is responsible for mental alterations observed in about 30% of …

AG+1→A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp 116 and severe clinical involvement in a …

GP Comi, E Ciafaloni, HAR de Silva… - Human molecular …, 1995 - academic.oup.com
The Duchenne muscular dystrophy (DMD) gene has a complex structural and functional
organization (1). At least five different promoters drive the transcription of tissue-specific …