Associated Papers
NAD+ dyshomeostasis in RYR1-related myopathies.
Lawal TA et al.
Skeletal Muscle, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.
Todd JJ et al.
Eclinicalmedicine, 2024
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study.
Kim Y et al.
Human Genetics, 2023
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A et al.
Neurology, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.
Huang Z et al.
Jama Network Open, 2023
Ryanodine receptor 1 related myasthenia like myopathy responsive to pyridostigmine.
Lester EB et al.
European Journal of Medical Genetics, 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
Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population.
Foo CTY et al.
Scientific Reports, 2022
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
Naslavsky MS et al.
Nature Communications, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.
Reumers SFI et al.
Clinical Genetics, 2021
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Lawal TA et al.
Journal of Neuromuscular Diseases, 2021
Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.
Werlauff U et al.
Journal of Neuromuscular Diseases, 2021
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
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
MISTIC: A prediction tool to reveal disease-relevant deleterious missense variants.
Chennen K et al.
Plos One, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M et al.
Acta Neuropathologica Communications, 2019
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
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
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.
Abath Neto O et al.
Neuromuscular Disorders : Nmd, 2017
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
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark.
Witting N et al.
Neurology. Genetics, 2017
Review of RyR1 pathway and associated pathomechanisms.
Witherspoon JW et al.
Acta Neuropathologica Communications, 2016
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
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
An integrated diagnosis strategy for congenital myopathies.
Böhm J et al.
Plos One, 2013
Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.
Hwang JH et al.
Trends in Molecular Medicine, 2012
Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies.
Xu L et al.
The Journal of Biological Chemistry, 2008
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H et al.
Brain : a Journal of Neurology, 2007
Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F et al.
Iubmb Life, 2007