|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of the dystrophin gene in 407 Chinese patients with Duchenne/Becker muscular dystrophy by the combination of multiplex ligation-dependent probe amplification and Sanger sequencing.
|
23588064 |
2013 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Resveratrol improves cardiomyopathy in dystrophin-deficient mice through SIRT1 protein-mediated modulation of p300 protein.
|
23297412 |
2013 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The protocol was standardized on a variety of known mutations, in 11 patients with cystic fibrosis (CF), Fabry's disease (FD), steroid 21-hydroxylase deficiency (21-HD), and Duchenne/Becker muscular dystrophy (DMD/BMD).
|
23934597 |
2013 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dystrophin gene cause Duchenne and Becker muscular dystrophy in humans and syndromes in mice, dogs, and cats.
|
22239881 |
2012 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.
|
22379338 |
2012 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Our group has focused on developing direct gene replacement strategies to treat recessively inherited forms of muscular dystrophy, particularly Duchenne and Becker muscular dystrophy (DMD/BMD).
|
22533379 |
2012 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD and BMD, respectively) are allelic disorders with different clinical presentations and severity determined by mutations in the gene DMD, which encodes the sarcolemmal protein dystrophin.
|
21399986 |
2011 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center.
|
20485447 |
2010 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Recovery of systolic dysfunction in duchenne muscular dystrophy due to the point mutation c.4213C>T.
|
21273767 |
2010 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
PARK2 and DMD, the causative genes for autosomal-recessive juvenile Parkinsonism and Duchenne and Becker muscular dystrophy, respectively, are two very large genes that are located within aphidicolin-induced CFSs.
|
20598272 |
2010 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne/Becker muscular dystrophy (DMD/BMD) is caused by large deletions or duplications in two-thirds of the cases.
|
19409785 |
2009 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dystrophin gene analysis in Hungarian Duchenne/Becker muscular dystrophy families - detection of carrier status in symptomatic and asymptomatic female relatives.
|
19084397 |
2009 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the case of so called "orphan" diseases, such as Duchenne and Becker muscular dystrophy (DMD/BMD), the number of suitable patients within one country is usually limited.
|
19269824 |
2009 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
This study aims to perform gene diagnosis for nine patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and their parents with multiplex ligation-dependent probe amplification (MLPA), and to carry out prenatal gene diagnosis for one of them.
|
19927354 |
2009 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.
|
19309154 |
2009 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization.
|
18752307 |
2008 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In 2 females with OTC deficiency, we also found 2 large heterozygous deletions of approximately 7.4 Mb and 9 Mb on the short arm of the X chromosome extending from sequences telomeric to the DMD gene [dystrophin (muscular dystrophy, Duchenne and Becker types)] to sequences within or centromeric to the OTC gene (ornithine carbamoyltransferase).
|
18487280 |
2008 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne/Becker muscular dystrophy (DMD/BMD), the most common X-linked muscular dystrophy is caused by mutations in the enormously large DMD gene, encoding the protein called dystrophin.
|
18653336 |
2008 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Reduced or absent sarcolemmal expression of one or all of the four sarcoglycans (alpha-, beta-, gamma-, delta-sarcoglycan) can be found in patients with limb-girdle muscular dystrophy 2C-F (LGMD2C-F) and also in patients with Duchenne and Becker muscular dystrophy (DMD/BMD).
|
18996010 |
2008 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The protocol was standardized on a variety of known mutations, in 11 patients with cystic fibrosis (CF), Fabry's disease (FD), steroid 21-hydroxylase deficiency (21-HD) and Duchenne/Becker muscular dystrophy (DMD/BMD).
|
17952667 |
2007 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The dystrophin gene, which is mutated in Duchenne and Becker muscular dystrophy, is characterized by its extremely large introns.
|
17579806 |
2007 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The most common genetic neuromuscular disease of childhood, Duchenne and Becker muscular dystrophy (DMD/BMD) is caused by deletion, duplication or point mutation of the dystrophin gene located at Xp 21.2.
|
16936400 |
2006 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A different spectrum of DMD gene mutations in local Chinese patients with Duchenne/Becker muscular dystrophy.
|
16834926 |
2006 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The last decade has evidenced unprecedented progress in gene therapy of Duchenne and Becker muscular dystrophy (DMD and BMD) skeletal muscle disease.
|
16987891 |
2006 |
|
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy.
|
16122626 |
2005 |