Associated Papers
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
A Journey with LGMD: From Protein Abnormalities to Patient Impact.
Georganopoulou DG et al.
The Protein Journal, 2021
Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.
Carotti M et al.
Human Molecular Genetics, 2018
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
Diniz G et al.
Pediatric Neurology, 2014
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.
Sandonà D et al.
Expert Reviews in Molecular Medicine, 2009
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Lukás Z et al.
Ceskoslovenska Patologie, 2001
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.
Chen YW et al.
The Journal of Cell Biology, 2000
Mutations in the sarcoglycan genes in patients with myopathy.
Duggan DJ et al.
The New England Journal of Medicine, 1997
alpha-Sarcoglycan (adhalin) deficiency: complete deficiency patients are 5% of childhood-onset dystrophin-normal muscular dystrophy and most partial deficiency patients do not have gene mutations.
Duggan DJ et al.
Journal of the Neurological Sciences, 1996
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