Associated Papers
Advanced therapeutic approaches in sarcoglycanopathies.
Scano M et al.
Current Opinion in Pharmacology, 2024
Autosomal Recessive Limb-Girdle Muscular Dystrophy-3: A Case Report of a Patient with Autism Spectrum Disorder.
Lewis S et al.
Genes, 2023
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Megarbane A et al.
Journal of Neuromuscular Diseases, 2022
Base editing repairs an SGCA mutation in human primary muscle stem cells.
Escobar H et al.
Jci Insight, 2021
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Reddy HM et al.
Muscle & Nerve, 2016
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
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.
Fendri K et al.
Neuromuscular Disorders : Nmd, 2006
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