Duchenne and Becker Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
The method was then tested to measure levels of dystrophin in muscle biopsies from a healthy donor and from Duchenne and Becker's muscular dystrophy patients.
|
31502334 |
2020 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Comprehensive genetic diagnosis of patients with Duchenne/Becker muscular dystrophy (DMD/BMD) and pathogenicity analysis of splice site variants in the DMD gene.
|
31379145 |
2020 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Defects in neuronal nitric oxide synthase (nNOS) splice variant localization and signaling in skeletal muscle are a firmly established pathogenic characteristic of many neuromuscular diseases, including Duchenne and Becker muscular dystrophy (DMD and BMD, respectively).
|
30503614 |
2019 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The dystrophin gene is associated with X-linked recessive Duchenne and Becker muscular dystrophy.
|
29246534 |
2018 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation of the gene encoding dystrophin leads to Duchenne and Becker muscular dystrophy (DMD and BMD).
|
29790927 |
2018 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Correction of diverse muscular dystrophy mutations in human engineered heart muscle by single-site genome editing.
|
29404407 |
2018 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The Duchenne/Becker muscular dystrophy (DMD) carrier screening includes the evaluation of mutations in DMD gene, and the most widely used analysis is the multiplex ligation-dependent probe amplification (MLPA) for the DMD deletions/duplications detection.
|
30303263 |
2018 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A broad mutational spectrum in the dystrophin (<i>DMD</i>) gene, from large deletions/duplications to point mutations, causes Duchenne/Becker muscular dystrophy (D/BMD).
|
28972564 |
2017 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
|
27593222 |
2017 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Corrigendum: Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
|
28943641 |
2017 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD/BMD) are caused by mutations in the dystrophin gene and are characterized by severe and mild progressive muscle wasting, respectively.
|
28734761 |
2017 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations.
|
26911353 |
2016 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD and BMD) are X-chromosomal recessive neuromuscular disorders that are caused by mutations in the dystrophin gene and characterized by cardiac involvement.
|
27150296 |
2016 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Assessment of resveratrol, apocynin and taurine on mechanical-metabolic uncoupling and oxidative stress in a mouse model of duchenne muscular dystrophy: A comparison with the gold standard, α-methyl prednisolone.
|
26930420 |
2016 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy severity depends upon the nature and location of the DMD gene lesion and generally correlates with the dystrophin open reading frame.
|
26745801 |
2016 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The mild end of the spectrum includes the phenotype of the muscle cramps with myoglobinuria and isolated quadriceps myopathy, while at the severe end, there are progressive muscle diseases that are classified as Duchenne / Becker muscular dystrophy (DMD/BMD).
|
25416089 |
2015 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD/BMD) are X-linked recessive disorders caused by mutation in dystrophin gene.
|
25131993 |
2015 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Duchenne and Becker muscular dystrophy (DMD/BMD) are both caused by mutations in the DMD gene.
|
23667215 |
2014 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MLPA based detection of mutations in the dystrophin gene of 180 Polish families with Duchenne/Becker muscular dystrophy.
|
25482253 |
2014 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene.
|
24236769 |
2014 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy.
|
24770780 |
2014 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The multiplex ligation-dependent probe amplification (MLPA) assay is the most powerful tool in screening for deletions and duplications in the dystrophin gene in patients with Duchenne and Becker muscular dystrophy (DMD/BMD).
|
23224783 |
2013 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA).
|
23729582 |
2013 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutation spectrum of dystrophin gene in malaysian patients with Duchenne/Becker muscular dystrophy.
|
23438214 |
2013 |
Duchenne and Becker Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
CTD_human |
Nifedipine treatment reduces resting calcium concentration, oxidative and apoptotic gene expression, and improves muscle function in dystrophic mdx mice.
|
24349043 |
2013 |