Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
41080992 (PubMed )
Supplement: 1834898.f6.xlsx › Missense_Variants
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
39020067 (PubMed )
Supplement: 41431_2024_1656_MOESM1_ESM.xls › Table_1
Dual role of the S5 segment in type 1 ryanodine receptor channel gating.
Murayama T et al.
Communications Biology, 2024
Central Core Disease: Facial Weakness Differentiating Biallelic from Monoallelic Forms.
Cotta A et al.
Genes, 2022
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M et al.
Acta Neuropathologica Communications, 2019
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
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
Kraeva N et al.
Neuromuscular Disorders : Nmd, 2015
Ryanodine myopathies without central cores--clinical, histopathologic, and genetic description of three cases.
Rocha J et al.
Pediatric Neurology, 2014
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
23919265 (PubMed )
Supplement: 1750-1172-8-117-S1.xlsx › AR_Cases_in_Literature
Central core disease due to recessive mutations in RYR1 gene: is it more common than described?
Kossugue PM et al.
Muscle & Nerve, 2007
Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1.
Gambelli S et al.
Clinical Genetics, 2007
Select a paper to view details