Associated Papers
RYR1-Related Myopathies Involve More than Calcium Dysregulation: Insights from Transcriptomic Profiling.
Sabbatini D et al.
Biomolecules, 2025
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A et al.
Acta Neuropathologica Communications, 2022
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
Structural mechanism of two gain-of-function cardiac and skeletal RyR mutations at an equivalent site by cryo-EM.
Iyer KA et al.
Science Advances, 2020
Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation "hot spot" loop.
Amador FJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Galli L et al.
Human Mutation, 2006
Select a paper to view details