Frameshift deletions of exons 3-7 and revertant fibers in Duchenne muscular dystrophy: mechanisms of dystrophin production.
AV Winnard, JR Mendell, TW Prior… - American journal of …, 1995 - ncbi.nlm.nih.gov
Duchenne muscular dystrophy (DMD) patients with mutations that disrupt the translational
reading frame produce little or no dystrophin. Two exceptions are the deletion of exons 3-7 …
reading frame produce little or no dystrophin. Two exceptions are the deletion of exons 3-7 …
A housekeeping type promoter, located in the 3'region of the Duchenne muscular dystrophy gene, controls the expression of Dp71, a major product of the gene
D Lederfein, D Yaffe, U Nudel - Human molecular genetics, 1993 - academic.oup.com
The 70.8 kDa protein product of the distal part of the giant Duchenne muscular dystrophy
(DMD) gene, Dp71, is expressed in many cell types and tissues. Anchored PCR, primer …
(DMD) gene, Dp71, is expressed in many cell types and tissues. Anchored PCR, primer …
Pattern of deletions of the dystrophin gene in Mexican Duchenne/Becker muscular dystrophy patients: the use of new designed primers for the analysis of the major …
R Coral‐Vázquez, D Arenas, B Cisneros… - American journal of …, 1997 - Wiley Online Library
We have analyzed 59 unrelated Mexican Duchenne/Becker muscular dystrophy patients
(DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one …
(DMD/BMD) using PCR analysis of the 2 prone deletion regions in the DMD gene. Thirty one …
Brain metabolite composition in relation to cognitive function and dystrophin mutations in boys with Duchenne muscular dystrophy
R Kreis, K Wingeier, P Vermathen, E Giger… - NMR in …, 2011 - Wiley Online Library
Duchenne muscular dystrophy (DMD) is a hereditary X‐linked recessive disorder affecting
the synthesis of dystrophin, a protein essential for structural stability in muscle. Dystrophin …
the synthesis of dystrophin, a protein essential for structural stability in muscle. Dystrophin …
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 …
Characterization of revertant muscle fibers in Duchenne muscular dystrophy, using exon-specific monoclonal antibodies against dystrophin.
LT Thanh, TM Nguyen, TR Helliwell… - American journal of …, 1995 - ncbi.nlm.nih.gov
Most Duchenne muscular dystrophy (DMD) patients have genetic deletions or point
mutations in the dystrophin gene that alter the reading frame of dystrophin mRNA. This …
mutations in the dystrophin gene that alter the reading frame of dystrophin mRNA. This …
A very small frame-shifting deletion within exon 19 of the Duchenne muscular dystrophy gene
M Matsuo, T Masumura, T Nakajima, Y Kitoh… - Biochemical and …, 1990 - Elsevier
We report the molecular characterization of a Japanese Duchenne muscular dystrophy
(DMD) patient. The analysis of genomic gene by polymerase chain reaction indicates that …
(DMD) patient. The analysis of genomic gene by polymerase chain reaction indicates that …
Early neurodevelopmental assessment in Duchenne muscular dystrophy
M Pane, R Scalise, A Berardinelli, G D'Angelo… - Neuromuscular …, 2013 - Elsevier
The aim of this study was to assess neurodevelopmental profile in young boys affected by
Duchenne muscular dystrophy and to establish the correlation between …
Duchenne muscular dystrophy and to establish the correlation between …
Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system
Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in
the central nervous system (CNS) including the retinal layers. Disruption of these protein …
the central nervous system (CNS) including the retinal layers. Disruption of these protein …
Psychopathological assessment in children affected by Duchenne de Boulogne muscular dystrophy.
M Roccella, R Pace, MT De Gregorio - Minerva Pediatrica, 2003 - europepmc.org
BACKGROUND: Several studies on the intelligence of children suffering from Duchenne
muscular dystrophy (DMD) found impairments in linguistic functions, memory and affective …
muscular dystrophy (DMD) found impairments in linguistic functions, memory and affective …