Associated Papers
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Challenges in genetic counseling for RYR1-related myopathies.
Shimomura R et al.
Brain & Development, 2025
Clear Cell Adenocarcinoma of the Urinary Tract Primary to the Renal Pelvis: A Multi-institutional Clinicopathologic and Molecular Study of Five Patients.
Indulkar S et al.
The American Journal of Surgical Pathology, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 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
Clinical and genetic features of infancy-onset congenital myopathies from a Chinese paediatric centre.
Zhang Y et al.
Bmc Pediatrics, 2022
Correlation of Phenotype-Genotype and Protein Structure in RYR1-Related Myopathy.
Chang X et al.
Frontiers in Neurology, 2022
Variant morphology and random chromosomal integration of BK polyomavirus in posttransplant urothelial carcinomas.
Bertz S et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020
A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.
Remiche G et al.
Neuromuscular Disorders : Nmd, 2015
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Exercise-induced rhabdomyolysis and stress-induced malignant hyperthermia events, association with malignant hyperthermia susceptibility, and RYR1 gene sequence variations.
Carsana A
Thescientificworldjournal, 2013
Ryanodine receptor as a new therapeutic target of heart failure and lethal arrhythmia.
Yano M
Circulation Journal : Official Journal of the Japanese Circulation Society, 2008
Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.
Herasse M et al.
Journal of Neuropathology and Experimental Neurology, 2007
Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.
Yano M et al.
Nature Clinical Practice. Cardiovascular Medicine, 2006
Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.
Sambuughin N et al.
Anesthesiology, 2005
Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
Sei Y et al.
Anesthesiology, 2004
Functional defects in six ryanodine receptor isoform-1 (RyR1) mutations associated with malignant hyperthermia and their impact on skeletal excitation-contraction coupling.
Yang T et al.
The Journal of Biological Chemistry, 2003
Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor.
Monnier N et al.
Human Molecular Genetics, 2001
Diagnostics in skeletal muscle channelopathies.
Vicino A et al.
Expert Review of Molecular Diagnostics, 0