Limb-girdle muscular dystrophy 2A
Author:
Publisher
Elsevier
Reference105 articles.
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2. Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A;Anderson;Am J Pathol,1998
3. Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies);Anderson;Neuromuscul Disord,2000
4. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the ikappab alpha/NF-kappab pathway in limb-girdle muscular dystrophy type 2A;Baghdiguian;Nat Med,1999
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1. Identification and functional characterization of a novel heterozygous splice‑site mutation in the calpain 3 gene causes rare autosomal dominant limb‑girdle muscular dystrophy;Experimental and Therapeutic Medicine;2024-01-11
2. CRISPR/Cas9 Genome Editing in LGMD2A/R1 Patient-Derived Induced Pluripotent Stem and Skeletal Muscle Progenitor Cells;Stem Cells International;2023-11-09
3. Alignment, cross linking, and beyond: a collagen architect’s guide to the skeletal muscle extracellular matrix;American Journal of Physiology-Cell Physiology;2023-10-01
4. Calpain signaling: from biology to therapeutic opportunities in neurodegenerative disorders;Frontiers in Veterinary Science;2023-09-05
5. Calpain-mediated proteolysis as driver and modulator of polyglutamine toxicity;Frontiers in Molecular Neuroscience;2022-10-19
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