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

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

Muscle imaging of patients with RYR1-related myopathies and its significance to clinical features.

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

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

Two journeys, one diagnosis: exploring the clinical outcomes of twins with congenital myopathy.

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

A systematic review on motor outcome measures in congenital myopathy.

Perioperative management of cesarean section in pregnant women complicated by central core disease: A case report and literature review.

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

A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.

Dantrolene inhibition of ryanodine receptor 1 carrying the severe malignant hyperthermia mutation Y522S visualized by cryo-EM.

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

[Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene].

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

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.

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

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

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

Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.

A brief history of the congenital myopathies - the myopathological perspective.

Pancreatitis in RYR1-related disorders.

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.

A novel RYR1 variant in an infant with a unique fetal presentation of central core disease.

Drug development for the treatment of RyR1-related skeletal muscle diseases.

Loss-of-rescue of Ryr1I4895T-related pathology by the genetic inhibition of the ER stress response mediator CHOP.

Pharmacokinetics of Dantrolene in the Plasma Exchange Treatment of Malignant Hyperthermia in a 14-Year-Old Chinese Boy: A Case Report and Literature Review.

Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM.

[Clinical characteristics and genetic analysis of a pedigree affected with neonatal central core disease].

Structural Insight Into Ryanodine Receptor Channelopathies.

A review of major causative genes in congenital myopathies.

Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.

Congenital myopathies: The current status.

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.

Mutation in RyR2-FKBP Binding site alters Ca2+ signaling modestly but increases "arrhythmogenesis" in human stem cells derived cardiomyocytes.

A review of core myopathy: central core disease, multiminicore disease, dusty core disease, and core-rod myopathy.

A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course.

The mitochondrial calcium homeostasis orchestra plays its symphony: Skeletal muscle is the guest of honor.

Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy.

Asymmetrical anterior thigh muscle atrophy as an atypical presentation of RYR1-core myopathy.

Altered Ca2+ Handling and Oxidative Stress Underlie Mitochondrial Damage and Skeletal Muscle Dysfunction in Aging and Disease.

A case of dermatomyositis in a patient with central core disease: unusual association with autoimmunity and genetic muscle disease.

Congenital Myopathies: A Clinicopathological Study of 10 Cases in a Tertiary Care Hospital of North India.

Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.

Core myopathies - a short review.

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.

Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.

In vivo RyR1 reduction in muscle triggers a core-like myopathy.

New Compound Heterozygous Splice Site Mutations of the Skeletal Muscle Ryanodine Receptor (RYR1) Gene Manifest Fetal Akinesia: A Linkage with Congenital Myopathies.

Management of pregnancy complicated by central core disease.

Thirty years of translational research in Mobility Medicine: Collection of abstracts of the 2020 Padua Muscle Days.

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice.

Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.

Clinical Observation: Effect of a Second Transpositioned Variant in a Family with Autosomal Dominant Ryanodine Receptor-1-Related Disease.

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

Single Amino Acid Changes in the Ryanodine Receptor in the Human Population Have Effects In Vivo on Caenorhabditis elegans Neuro-Muscular Function.

Impact of scoliosis surgery on pulmonary function in patients with muscular dystrophies and spinal muscular atrophy.

Cored in the act: the use of models to understand core myopathies.

Significance of Asymptomatic Hyper Creatine-Kinase Emia.

Functional Electrical Stimulation: A Possible Strategy to Improve Muscle Function in Central Core Disease?

A central core disease mutation in the Ca2+-binding site of skeletal muscle ryanodine receptor impairs single-channel regulation.

RYR1 Sequence Variants in Myopathies: Expression and Functional Studies in Two Families.

Therapeutic Aspects in Congenital Myopathies.

Pregnancy and Delivery in Women With Congenital Myopathies.

Severe Neonatal RYR1 Myopathy With Pathological Features of Congenital Muscular Dystrophy.

Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.

Disturbed Ca2+ Homeostasis in Muscle-Wasting Disorders.

Calcium Channelopathies: Structural Insights into Disorders of the Muscle Excitation-Contraction Complex.

Characterization of congenital myopathies at a Korean neuromuscular center.

Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.

Parental mosaicism in RYR1-related Central Core Disease.

Central core disease with scoliosis for congenital hip dislocation surgery: An anaesthetic demur.

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Antioxidant Treatment Reduces Formation of Structural Cores and Improves Muscle Function in RYR1Y522S/WT Mice.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Reduced threshold for store overload-induced Ca2+ release is a common defect of RyR1 mutations associated with malignant hyperthermia and central core disease.

Ion-pulling simulations provide insights into the mechanisms of channel opening of the skeletal muscle ryanodine receptor.

Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.

Functional Characterization of C-terminal Ryanodine Receptor 1 Variants Associated with Central Core Disease or Malignant Hyperthermia.

Young onset Parkinsonism in a patient with familial central core disease.

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein.

Malignant hyperthermia-associated mutations in the S2-S3 cytoplasmic loop of type 1 ryanodine receptor calcium channel impair calcium-dependent inactivation.

Genotype-Phenotype Correlations of Malignant Hyperthermia and Central Core Disease Mutations in the Central Region of the RYR1 Channel.

Congenital myopathies: not only a paediatric topic.

Current and future therapeutic approaches to the congenital myopathies.

[Anesthetic Management of a Patient with Central Core Disease for Scoliosis Surgery].

Coexistence of central nucleus, cores, and rods: Diagnostic relevance.

Next generation sequencing reveals ryanodine receptor 1 mutations in a Chinese central core disease cohort.

Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

Novel pathogenic variants and genes for myopathies identified by whole exome sequencing.

Divergent Activity Profiles of Type 1 Ryanodine Receptor Channels Carrying Malignant Hyperthermia and Central Core Disease Mutations in the Amino-Terminal Region.

Oxidative stress, mitochondrial damage, and cores in muscle from calsequestrin-1 knockout mice.

A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.

Two families with MYH7 distal myopathy associated with cardiomyopathy and core formations.

Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region.

Potassium dependent rescue of a myopathy with core-like structures in mouse.