Central Core Disease Latest Advances

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

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Journal: Cureus

Published: October 07, 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

RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.

Journal: Biomolecules

Published: September 15, 2025

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Journal: European journal of human genetics : EJHG

Published: August 08, 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

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.

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

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

Journal: Molecular therapy. Nucleic acids

Published: February 08, 2024

Central Core Disease Latest Advances

Find the Latest Research About Central Core Disease

Ca2+, ROS, IL-6, and p38 MAPK signaling loops underlying alterations in myotube formation induced by a severe MH/CCD mutation in RyR1.

Ca2+, ROS, IL-6, and p38 MAPK signaling loops underlying alterations in myotube formation induced by a severe MH/CCD mutation in RyR1.

Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.

Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

Therapeutic Challenges in Managing Triple-Negative Breast Cancer in a Patient With Central Core Disease.

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.

RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.

RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.

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

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.

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.

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.

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.

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

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