Associated Papers
Implementing a Tiered Genetic Testing Strategy for Muscular Dystrophies in Morocco: From Targeted Assays to Exome Sequencing.
Rahmuni Y et al.
Molecular Genetics & Genomic Medicine, 2026
Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.
Rahmuni Y et al.
Irish Journal of Medical Science, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Dual Blockade of Misfolded Alpha-Sarcoglycan Degradation by Bortezomib and Givinostat Combination.
Hoch L et al.
Frontiers in Pharmacology, 2022
Identification of thiostrepton as a pharmacological approach to rescue misfolded alpha-sarcoglycan mutant proteins from degradation.
Hoch L et al.
Scientific Reports, 2019
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
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
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.
Mendell JR et al.
Annals of Neurology, 2009
Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L et al.
Neuromuscular Disorders : Nmd, 2008
On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers.
Fischer D et al.
Annals of Neurology, 2003
Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology.
Chen YW et al.
The Journal of Cell Biology, 2000
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
Ginjaar HB et al.
Journal of Neurology, 2000
Mutations in the sarcoglycan genes in patients with myopathy.
Duggan DJ et al.
The New England Journal of Medicine, 1997
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