|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study reports on the first in vitro model for LGMD2D that is compatible with high-throughput screening and proposes a new therapeutic option for LGMD2D caused by missense mutations of α-SG.
|
31061434 |
2019 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In a previous limb-girdle muscular dystrophy type 2D (LGMD2D) clinical trial, robust alpha-sarcoglycan gene expression was confirmed following intramuscular gene (<i>SGCA</i>) transfer.
|
30838895 |
2019 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A clinically relevant transgene, α-sarcoglycan, mutated in limb-girdle muscular dystrophy type 2D, was fused with the SIINFEKL epitope (hSGCA-SIIN) and expressed with adeno-associated virus vectors (AAV-hSGCA-SIIN).
|
31649958 |
2019 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2D (LGMD2D) is a rare autosomal-recessive disease, affecting striated muscle, due to mutation of SGCA, the gene coding for α-sarcoglycan.
|
29351619 |
2018 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the SGCA gene cause limb girdle muscular dystrophy type 2D (LGMD2D).
|
30007747 |
2018 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.
|
29351619 |
2018 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan.
|
30345904 |
2018 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
Biomarker
|
disease |
BEFREE |
Implementing the TREAD-NMD standardized operating procedures, we here subjected LGMD2D (SGCA-null), LGMD2F (SGCD-null) and wild type (C57BL/6J) mice to five functional tests from the age of 4 to 32 weeks.
|
28797108 |
2017 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
|
28403181 |
2017 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.
|
28403181 |
2017 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.
|
26916285 |
2016 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
|
26934379 |
2016 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Immunostaining of a muscle biopsy showed mildly diminished alpha sarcoglycan staining, and SGCA gene sequencing revealed n.C229T; p.Arg77Cys (R77C) and n.C850T; p.Arg284Cys (R284C), which is associated with alpha sarcoglycanopathy.
|
27297959 |
2016 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2D (LGMD2D), an autosomal-recessive inherited LGMD, is caused by the mutations in SGCA.
|
26944168 |
2016 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.
|
27120200 |
2016 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D.
|
27120200 |
2016 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Alpha-sarcoglycanopathy presenting as exercise intolerance and rhabdomyolysis in two adults.
|
26453141 |
2015 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
|
26404900 |
2015 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
|
25046369 |
2014 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
|
25135358 |
2014 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Left ventricular function in alpha-sarcoglycanopathy and gamma-sarcoglycanopathy.
|
24464767 |
2014 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.
|
25214167 |
2014 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
|
25135358 |
2014 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Unveiling the degradative route of the V247M α-sarcoglycan mutant responsible for LGMD-2D.
|
24565866 |
2014 |
|
Alpha-Sarcoglycanopathies
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
|
24742800 |
2014 |