Associated Papers
Molecular Insights into Central Core Disease: Proteomic Signatures and Potential Therapeutic Biomarkers in RYR1 I4895T Mice.
Vantaggiato L et al.
International Journal of Molecular Sciences, 2025
RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.
Sabbatini D et al.
Biomolecules, 2025
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
Genetic Panel Testing for Malignant Hyperthermia in Japan: Discovery of Novel Variants and Clinical Implications.
Miyoshi H et al.
Genes, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
The RyR1 P3528S Substitution Alters Mouse Skeletal Muscle Contractile Properties and RyR1 Ion Channel Gating.
Thekkedam CG et al.
International Journal of Molecular Sciences, 2023
Ryanodine receptor type 1 content decrease-induced endoplasmic reticulum stress is a hallmark of myopathies.
Vidal J et al.
Journal of Cachexia, Sarcopenia and Muscle, 2023
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A et al.
Neurology, 2023
One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.
Deng Q et al.
Gene, 2023
Loss-of-rescue of Ryr1I4895T-related pathology by the genetic inhibition of the ER stress response mediator CHOP.
Germani S et al.
Scientific Reports, 2022
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
Zhang Y et al.
Bmc Pediatrics, 2022
Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.
Chang X et al.
Frontiers in Neurology, 2022
Genetic therapy for congenital myopathies.
Maani N et al.
Current Opinion in Neurology, 2021
Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation.
Hanna AD et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy.
Filipe A et al.
Cell Death and Differentiation, 2021
Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.
Ogasawara M et al.
Journal of Neuropathology and Experimental Neurology, 2020
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients.
Galleni Leão L et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Pelletier L et al.
Acta Neuropathologica Communications, 2020
Incorporating Spinal Muscular Atrophy Analysis by Next-Generation Sequencing into a Comprehensive Multigene Panel for Neuromuscular Disorders.
Tan CA et al.
Genetic Testing and Molecular Biomarkers, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A et al.
Acta Neuropathologica, 2020
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive scoping review of works published 1990-2019.
Lawal TA et al.
Orphanet Journal of Rare Diseases, 2020
Cored in the act: the use of models to understand core myopathies.
Fusto A et al.
Disease Models & Mechanisms, 2019
Mouse model of severe recessive RYR1-related myopathy.
Brennan S et al.
Human Molecular Genetics, 2019
Estimating prevalence of malignant hyperthermia susceptibility through population genomics data.
Mungunsukh O et al.
British Journal of Anaesthesia, 2019
Ryanodine receptor dysfunction in human disorders.
Kushnir A et al.
Biochimica Et Biophysica Acta. Molecular Cell Research, 2018
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ et al.
Journal of Neurology, 2018
Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM et al.
British Journal of Anaesthesia, 2018
Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.
Lawal TA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2018
Characterization of congenital myopathies at a Korean neuromuscular center.
Park YE et al.
Muscle & Nerve, 2018
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
Suman M et al.
Human Molecular Genetics, 2018
Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.
Riazi S et al.
Anesthesiology, 2018
Clinical and Pathologic Findings of Korean Patients with RYR1-Related Congenital Myopathy.
Jeong HN et al.
Journal of Clinical Neurology (seoul, Korea), 2018
A chemical chaperone improves muscle function in mice with a RyR1 mutation.
Lee CS et al.
Nature Communications, 2017
RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
Samões R et al.
Journal of Neuromuscular Diseases, 2017