Associated Papers
NAD+ dyshomeostasis in RYR1-related myopathies.
Lawal TA et al.
Skeletal Muscle, 2025
Comprehensive pharmacogenomics profiling of the Serbian population.
Jelovac M et al.
Frontiers in Pharmacology, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.
Todd JJ et al.
Eclinicalmedicine, 2024
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Sequence variants in malignant hyperthermia genes in Iceland: classification and actionable findings in a population database.
Fridriksdottir R et al.
European Journal of Human Genetics : Ejhg, 2021
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Lawal TA et al.
Journal of Neuromuscular Diseases, 2021
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.
Qiao L et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ et al.
Journal of Neurology, 2018
Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.
Matthews E et al.
Neurology, 2018
Whole exome sequencing of a patient with suspected mitochondrial myopathy reveals novel compound heterozygous variants in RYR1.
Blackburn PR et al.
Molecular Genetics & Genomic Medicine, 2017
Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years.
Werlauff U et al.
Journal of Neuromuscular Diseases, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Olfson E et al.
Plos One, 2015
Using exome data to identify malignant hyperthermia susceptibility mutations.
Gonsalves SG et al.
Anesthesiology, 2013
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
RyR1 deficiency in congenital myopathies disrupts excitation-contraction coupling.
Zhou H et al.
Human Mutation, 2013
Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.
Xu L et al.
The Journal of Biological Chemistry, 2008
Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F et al.
Iubmb Life, 2007
Characterization of recessive RYR1 mutations in core myopathies.
Zhou H et al.
Human Molecular Genetics, 2006
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0