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
Defective ryanodine receptor N-terminus inter-subunit interaction is a common mechanism in neuromuscular and cardiac disorders.
Zhang Y et al.
Frontiers in Physiology, 2022
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
Malignant hyperthermia, a Scandinavian update.
Broman M et al.
Acta Anaesthesiologica Scandinavica, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
25517095 (PubMed )
Supplement: NIHMS61019-supplement-Supplementary_Table_1.pdf
Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease.
Vukcevic M et al.
Anesthesia and Analgesia, 2010
Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases.
Broman M et al.
British Journal of Anaesthesia, 2009
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