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Last Updated: 01/07/2026
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Found 244 publications
Ca2+, ROS, IL-6, and p38 MAPK signaling loops underlying alterations in myotube formation induced by a severe MH/CCD mutation in RyR1.
Journal: American journal of physiology. Cell physiology
Published: November 10, 2025
Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.
Journal: International journal of molecular sciences
Published: October 28, 2025
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.
Journal: Journal of neuromuscular diseases
Published: September 19, 2025
Muscle imaging of patients with RYR1-related myopathies and its significance to clinical features.
Journal: Neuromuscular disorders : NMD
Published: July 25, 2025
A systematic review on motor outcome measures in congenital myopathy.
Journal: Neuromuscular disorders : NMD
Published: February 26, 2025
Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 29, 2024
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Journal: Stem cell research
Published: March 26, 2024
Case report: A creatine kinase-borg scale values-based approach to tailor physical training in a central core myopathy patient.
Journal: Frontiers in physiology
Published: March 21, 2024
Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design.
Journal: Heliyon
Published: March 13, 2024
Last Updated: 01/07/2026