|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD), which is caused by a mutation/deletion in the dystrophin gene on the X-chromosome, is the most common type of neuromuscular disorder in pediatrics.
|
31832414 |
2019 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Although the impact of copy number variants (CNVs) in neuromuscular disorders has been largely ignored to date, missed CNVs are predicted to have a major role in disease causation as some very large genes, such as the dystrophin gene, have prone-to-deletion regions.
|
30373198 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
We applied this new acquisition-analysis method to quantify dystrophin and sarcolemma-related proteins using paediatric control muscles from cases without a neuromuscular disorder as well as DMD and BMD samples.
|
29579078 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles.
|
29847600 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Dystrophinopathies are a set of severe and incurable X-linked neuromuscular disorders caused by mutations in the dystrophin gene (DMD).
|
29973226 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD), caused by the absence of the protein dystrophin, is characterized as a neuromuscular disease in which muscle weakness, increased susceptibility to muscle injury, and inadequate repair appear to underlie the pathology.
|
29067656 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
X-linked recessive mutations in the dystrophin gene are one of the most common causes of inherited neuromuscular disorders in humans.
|
29610182 |
2018 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Duchenne Muscular Dystrophy is a rare and fatal neuromuscular disease in which the absence of dystrophin from the muscle membrane induces a secondary loss of neuronal nitric oxide synthase and the muscles capacity for endogenous nitric oxide synthesis.
|
28545481 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is an X-linked neuromuscular disease caused by the lack of dystrophin due to mutations in the DMD gene.
|
29173172 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is a neuromuscular disease that predominantly affects boys as a result of mutation(s) in the dystrophin gene.
|
28453658 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The almost complete loss of the membrane cytoskeletal protein dystrophin and concomitant drastic reduction in dystrophin-associated glycoproteins are the underlying mechanisms of the highly progressive neuromuscular disorder Duchenne muscular dystrophy.
|
28803268 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are neuromuscular disorders that primarily affect boys due to an X-linked mutation in the DMD gene, resulting in reduced to near absence of dystrophin or expression of truncated forms of dystrophin.
|
28974147 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The almost complete loss of the dystrophin isoform Dp427‑M and concomitant reduction in the dystrophin‑associated glycoprotein complex is the underlying cause of the highly progressive neuromuscular disorder named Duchenne muscular dystrophy.
|
28765879 |
2017 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most common inherited neuromuscular disease.
|
26911353 |
2016 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene.
|
27230049 |
2016 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
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 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene.
|
26457695 |
2015 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Novel therapeutic approaches are emerging to restore dystrophin function in Duchenne Muscular Dystrophy (DMD), a severe neuromuscular disease characterized by progressive muscle wasting and weakness.
|
25761239 |
2015 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne and Becker muscular dystrophies (DMD/BMD) are the most commonly inherited neuromuscular disease.
|
23756440 |
2014 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease caused by mutations in the gene that encodes the protein dystrophin.
|
22428906 |
2013 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have been identified that are involved in various muscle-wasting and neuromuscular disorders.
|
23671309 |
2013 |
|
Neuromuscular Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD), which is caused by mutations in the X-linked dystrophin gene, is a severe and progressive neuromuscular disease with no available cure.
|
24222227 |
2013 |
|
Neuromuscular Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Duchenne muscular dystrophy (DMD) is a neuromuscular disease originated by reduced or no expression of dystrophin, a cytoskeletal protein that provides structural integrity to muscle fibres.
|
22613991 |
2012 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Dystroglycan is a protein which binds directly to two proteins defective in muscular dystrophies (dystrophin and laminin alpha2) and whose own aberrant post-translational modification is the common aetiological route of neuromuscular diseases associated with mutations in genes encoding at least six other proteins (POMT1, POMT2, POMGnT1, LARGE, FKTN and FKRP).
|
20234391 |
2010 |
|
Neuromuscular Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The dystrophin glycoprotein complex is disrupted in Duchenne muscular dystrophy and many other neuromuscular diseases.
|
19961569 |
2009 |