Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 137 publications
Sarcoglycanopathies: From clinical diagnosis to new promising therapies.
Journal: Journal of neuromuscular diseases
Published: March 25, 2025
Detailed immune cell profiling of paediatric patient with limb girdle muscular dystrophy R3.
Journal: Journal of the neurological sciences
Published: March 16, 2025
Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.
Journal: International journal of molecular sciences
Published: October 23, 2024
The novel use of the CFTR corrector C17 in muscular dystrophy: pharmacological profile and in vivo efficacy.
Journal: Biochemical pharmacology
Published: October 15, 2024
Sarcospan protects against LGMD R5 via remodeling of the sarcoglycan complex composition in dystrophic mice.
Journal: The Journal of clinical investigation
Published: October 09, 2024
Sarcoglycans are enriched at the neuromuscular junction in a nerve-dependent manner.
Journal: Cell death & disease
Published: August 07, 2024
Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma.
Journal: Genes
Published: July 30, 2024
Molecular diagnosis of Alpha-sarcoglycanopathies by NGS in seven Moroccan families and report of two novel variants.
Journal: Irish journal of medical science
Published: April 01, 2024
Profiling of pathogenic variants in Japanese patients with sarcoglycanopathy.
Journal: Orphanet journal of rare diseases
Published: March 21, 2024
Advanced therapeutic approaches in sarcoglycanopathies.
Journal: Current opinion in pharmacology
Published: March 01, 2024
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.
Journal: Gene
Published: November 27, 2023
Last Updated: 10/31/2025