Associated Papers
Pathogenicity assessment of seven RYR1 variants in patients with confirmed susceptibility to malignant hyperthermia in the Netherlands.
van den Bersselaar LR et al.
British Journal of Anaesthesia, 2026
Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.
van den Bersselaar LR et al.
Journal of Neuromuscular Diseases, 2023
Tumor immune microenvironment of self-identified African American and non-African American triple negative breast cancer.
Marczyk M et al.
Npj Breast Cancer, 2022
35869114 (PubMed )
Supplement: 41523_2022_449_MOESM2_ESM.xlsx › Table2-Mutation_Details
Neuromuscular symptoms in patients with RYR1-related malignant hyperthermia and rhabdomyolysis.
van den Bersselaar LR et al.
Brain Communications, 2022
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K et al.
Scientific Reports, 2021
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
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