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Last Updated: 10/31/2025
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Found 71 publications
Targeted next-generation sequencing determined a novel SGCG variant that is associated with limb-girdle muscular dystrophy type 2C: A case report.
Journal: Clinical case reports
Published: October 11, 2022
Aberrant Adenosine Triphosphate Release and Impairment of P2Y2-Mediated Signaling in Sarcoglycanopathies.
Journal: Laboratory investigation; a journal of technical methods and pathology
Published: July 20, 2022
Current Genetic Survey and Potential Gene-Targeting Therapeutics for Neuromuscular Diseases.
Journal: International journal of molecular sciences
Published: November 05, 2020
Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring.
Journal: Molecular therapy. Methods & clinical development
Published: July 09, 2020
Recent advancements in exon-skipping therapies using antisense oligonucleotides and genome editing for the treatment of various muscular dystrophies.
Journal: Expert reviews in molecular medicine
Published: October 03, 2019
A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping.
Journal: Disease models & mechanisms
Published: June 03, 2019
Childhood onset limb-girdle muscular dystrophies in the Aegean part of Turkey.
Journal: Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Published: March 07, 2019
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure.
Journal: Scientific reports
Published: December 31, 2018
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.
Journal: Orphanet journal of rare diseases
Published: March 01, 2018
Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.
Journal: JCI insight
Published: December 19, 2017
Designing Effective Antisense Oligonucleotides for Exon Skipping.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: October 26, 2017
Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy.
Journal: The American journal of pathology
Published: May 17, 2017
Last Updated: 10/31/2025