Associated Papers
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
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A et al.
Neurology, 2023
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
TRPV1 variants impair intracellular Ca2+ signaling and may confer susceptibility to malignant hyperthermia.
Vanden Abeele F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.
Witting N et al.
Acta Neurologica Scandinavica, 2018
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
Mapping domains and mutations on the skeletal muscle ryanodine receptor channel.
Hwang JH et al.
Trends in Molecular Medicine, 2012
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Clarke NF et al.
Human Mutation, 2010
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies.
Zhou H et al.
Brain : a Journal of Neurology, 2007
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