Associated Papers
Genetic Deletion of the Purinergic Receptor P2rx7 Worsens the Phenotype of α‑Sarcoglycan Muscular Dystrophy.
Astigiano C et al.
Acs Pharmacology & Translational Science, 2025
Genomic alterations in normal breast tissues preceding breast cancer diagnosis.
Dai J et al.
Breast Cancer Research : Bcr, 2025
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
Bardhan M et al.
Neurogenetics, 2022
Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Xie Z et al.
Orphanet Journal of Rare Diseases, 2019
[Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].
Ding L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy.
Turan S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
[A novel missense mutation in the alpha-sarcoglycan gene in a Spanish family with muscular dystrophy].
Pinel-González A et al.
Revista De Neurologia, 2013
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Soheili T et al.
Human Mutation, 2012
Limb-girdle muscular dystrophy type 2D gene therapy restores alpha-sarcoglycan and associated proteins.
Mendell JR et al.
Annals of Neurology, 2009
Revised spectrum of mutations in sarcoglycanopathies.
Trabelsi M et al.
European Journal of Human Genetics : Ejhg, 2008
Sarcoglycanopathies: a multiplex molecular analysis for the most common mutations.
Gouveia TL et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2006
Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria.
Mongini T et al.
Neuropediatrics, 2002