Associated Papers
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
Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.
Bachmann C et al.
Brain Communications, 2022
36196089 (PubMed )
Supplement: fcac224_supplementary_data.docx
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
The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
Knuiman GJ et al.
Journal of Neurology, 2019
RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.
Voermans NC et al.
Revue Neurologique, 2016
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M et al.
European Journal of Neurology, 2015
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