Associated Papers
Pathogenic Variants in Mennonites From Southern Brazil: Implications for Preventive Measures in Public Health.
Mayer de Lima LB et al.
Clinical Genetics, 2026
Pathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands.
van den Bersselaar LR et al.
British Journal of Anaesthesia, 2026
Cryo-electron microscopy reveals sequential binding and activation of Ryanodine Receptors by statin triplets.
Molinarolo S et al.
Nature Communications, 2025
Succinylcholine-induced rhabdomyolysis in a patient with RYR1 and BCHE variants: A case report.
Harrison TE et al.
Biomolecules & Biomedicine, 2025
Genetic Characteristics of Brazilian Patients with MH History.
Silva HCA et al.
Genes, 2025
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.
Ying EZ et al.
Human Molecular Genetics, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.
Bisciglia M et al.
European Journal of Neurology, 2025
Report of joint hypermobility in malignant hyperthermia susceptible patients: Observational study with a case-control descriptive design.
Santos RC et al.
Heliyon, 2025
The impact of genetic variability on Alzheimer's therapies: obstacles for pharmacogenetic progress.
Cacabelos R et al.
Expert Opinion on Drug Metabolism & Toxicology, 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
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrum.
Regev M et al.
Gene, 2024
Propofol binds and inhibits skeletal muscle ryanodine receptor 1.
Joseph TT et al.
British Journal of Anaesthesia, 2024
WES-based screening of 7,000 newborns: A pilot study in Russia.
Shubina J et al.
Hgg Advances, 2024
Pharmacogenetic analysis of structural variation in the 1000 genomes project using whole genome sequences.
Sherman CA et al.
Scientific Reports, 2024
Structural changes and contractility in muscle assessed by magnetic resonance imaging in individuals with ryanodine receptor 1-related rhabdomyolysis or myalgia.
Lyu Z et al.
Muscle & Nerve, 2024
De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.
Al Delbany D et al.
Cells, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Propofol directly binds and inhibits skeletal muscle ryanodine receptor 1 (RyR1).
Joseph TT et al.
Biorxiv : the Preprint Server for Biology, 2024
Evaluation of Malignant Hyperthermia Features in Patients with Pathogenic or Likely Pathogenic RYR1 Variants Disclosed through a Population Genomic Screening Program.
Yu KD et al.
Anesthesiology, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.
Sonne A et al.
Acta Physiologica (oxford, England), 2023
One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.
Deng Q et al.
Gene, 2023
At-Risk Genomic Findings for Pediatric-Onset Disorders From Genome Sequencing vs Medically Actionable Gene Panel in Proactive Screening of Newborns and Children.
Balciuniene J et al.
Jama Network Open, 2023
A Comprehensive Analysis of 21 Actionable Pharmacogenes in the Spanish Population: From Genetic Characterisation to Clinical Impact.
Nunez-Torres R et al.
Pharmaceutics, 2023
Oral Dantrolene for Myopathic Symptoms in Malignant Hyperthermia-Susceptible Patients: A 25-Year Retrospective Cohort Study of Adverse Effects and Tolerability.
Ibarra Moreno CA et al.
Anesthesia and Analgesia, 2023
Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.
Iyer KA et al.
Current Opinion in Pharmacology, 2023
Pharmacogenetics of anxiety and depression in Alzheimer's disease.
Cacabelos R et al.
Pharmacogenomics, 2023
Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations.
Parada-Márquez JF et al.
Frontiers in Pharmacology, 2023
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR et al.
Journal of Neuromuscular Diseases, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
Congenital myopathies in adults: A diagnosis not to overlook.
Pinto MJ et al.
Acta Neurologica Scandinavica, 2022
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A et al.
Genes, 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
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Bachmann C et al.
Brain Communications, 2022
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
van den Bersselaar LR et al.
Brain Communications, 2022