|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Desmin Mutation in the C-Terminal Domain Impairs Traction Force Generation in Myoblasts.
|
26789769 |
2016 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue.
|
27393313 |
2016 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
|
27854218 |
2016 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
The toxic effect of R350P mutant desmin in striated muscle of man and mouse.
|
25394388 |
2015 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Autophagic vacuolar pathology in desminopathies.
|
25557463 |
2015 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
|
23815709 |
2013 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.
|
23349452 |
2013 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.
|
23425003 |
2013 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
|
22484823 |
2013 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Viral-mediated expression of desmin mutants to create mouse models of myofibrillar myopathy.
|
23425003 |
2013 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Functional characterization of desmin mutant p.P419S.
|
23032110 |
2013 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes.
|
22484823 |
2013 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
|
22403400 |
2012 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.
|
22215463 |
2012 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.
|
22153487 |
2012 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
|
22403400 |
2012 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics.
|
22275259 |
2012 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.
|
23155419 |
2012 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.
|
22106715 |
2011 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
CausalMutation |
CLINVAR |
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
|
21262226 |
2011 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
Desmin mutations in the terminal consensus motif prevent synemin-desmin heteropolymer filament assembly.
|
21262226 |
2011 |
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
|
1.000 |
GeneticVariation |
CLINVAR |
A series of Chinese patients with desminopathy associated with six novel and one reported mutations in the desmin gene.
|
20696008 |
2011 |