Associated Papers
NAD+ dyshomeostasis in RYR1-related myopathies.
Lawal TA et al.
Skeletal Muscle, 2025
40846977 (PubMed )
Supplement: 13395_2025_390_MOESM1_ESM.docx
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
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Segarra-Casas A et al.
European Journal of Neurology, 2025
39742415 (PubMed )
Supplement: ENE-32-e16471-s001.docx
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Lawal TA et al.
Journal of Neuromuscular Diseases, 2021
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
33037202 (PubMed )
Supplement: 41467_2020_18865_MOESM7_ESM.zip › Manuscript_Source_Data › Others › Supplemental_Table_Patients.xlsx › Patient_Database
Correlation of phenotype with genotype and protein structure in RYR1-related disorders.
Todd JJ et al.
Journal of Neurology, 2018
Case report: Death in the emergency department: an unrecognized awake malignant hyperthermia-like reaction in a six-year-old.
Lavezzi WA et al.
Anesthesia and Analgesia, 2013
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