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Last Updated: 10/31/2025

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Found 239 publications

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

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

A systematic review on motor outcome measures in congenital myopathy.

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

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.

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

Generation of two iPSC lines from adult central core disease patients with dominant missense variants in the RYR1 gene.

Generation of two iPSC lines from adult central core disease patients with 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.

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.

Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design.

Journal: Heliyon
Published: March 13, 2024

Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation.

Functional benefit of CRISPR-Cas9-induced allele deletion for RYR1 dominant mutation.

Journal: Molecular therapy. Nucleic acids
Published: February 08, 2024

Perioperative management of bronchoscopy in a child patient with central core disease: A case report and literature review.

Perioperative management of bronchoscopy in a child patient with central core disease: A case report and literature review.

Journal: International journal of surgery case reports
Published: January 23, 2024

Anesthetic Management of a Patient With Central Core Disease Undergoing Thoracoscopic Lung Resection: The Importance of Neuromuscular Monitoring at the Masseter Muscle.

Anesthetic Management of a Patient With Central Core Disease Undergoing Thoracoscopic Lung Resection: The Importance of Neuromuscular Monitoring at the Masseter Muscle.

Journal: Cureus
Published: January 17, 2024

A case report of central core disease with repeated foaming at the mouth as the initial symptom.

A case report of central core disease with repeated foaming at the mouth as the initial symptom.

Journal: Medicine
Published: December 05, 2023

Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.

Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.

Journal: EClinicalMedicine
Published: November 06, 2023
Showing 1-12 of 239

Last Updated: 10/31/2025