Associated Papers
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.
Melka M et al.
Journal of Neuromuscular Diseases, 2025
Dual role of the S5 segment in type 1 ryanodine receptor channel gating.
Murayama T et al.
Communications Biology, 2024
Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation.
Beaufils M et al.
Molecular Therapy. Nucleic Acids, 2024
39071953 (PubMed )
Supplement: mmc3.pdf
Cored in the act: the use of models to understand core myopathies.
Fusto A et al.
Disease Models & Mechanisms, 2019
Characterization of congenital myopathies at a Korean neuromuscular center.
Park YE et al.
Muscle & Nerve, 2018
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.
Jeong HN et al.
Journal of Clinical Neurology (seoul, Korea), 2018
Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.
Cacheux M et al.
Journal of Neuromuscular Diseases, 2015
Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region.
Jung NY et al.
Journal of Clinical Neurology (seoul, Korea), 2015
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