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
Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility.
Ying EZ et al.
Human Molecular Genetics, 2025
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
Comprehensive pharmacogenomics profiling of the Serbian population.
Jelovac M et al.
Frontiers in Pharmacology, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence].
Del Arco-Guzmán N et al.
Revista De Neurologia, 2024
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 pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
A novel machine learning-based approach for the computational functional assessment of pharmacogenomic variants.
Pandi MT et al.
Human Genomics, 2021
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K et al.
Scientific Reports, 2021
Adaptive thermogenesis enhances the life-threatening response to heat in mice with an Ryr1 mutation.
Wang HJ et al.
Nature Communications, 2020
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.
Estañ MC et al.
Nature Communications, 2019
High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study.
Coburger J et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
Levano S et al.
Neuromuscular Disorders : Nmd, 2017
Ryanodine Receptor 1 Polymorphism Is Not Associated with Aneurysmal Subarachnoid Hemorrhage or its Clinical Sequelae.
Hendrix P et al.
World Neurosurgery, 2017
A comparative assessment of clinical whole exome and transcriptome profiling across sequencing centers: implications for precision cancer medicine.
Van Allen EM et al.
Oncotarget, 2016
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.
Schiemann AH et al.
British Journal of Anaesthesia, 2016
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
Kraeva N et al.
Neuromuscular Disorders : Nmd, 2015
Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.
Fiszer D et al.
Anesthesiology, 2015
Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families.
Gillies RL et al.
Anaesthesia and Intensive Care, 2015
Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution.
Yan Z et al.
Nature, 2015
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W et al.
Orphanet Journal of Rare Diseases, 2014
Using exome data to identify malignant hyperthermia susceptibility mutations.
Gonsalves SG et al.
Anesthesiology, 2013
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K et al.
Orphanet Journal of Rare Diseases, 2013
Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Brandom BW et al.
Anesthesia and Analgesia, 2013
Novel excitation-contraction uncoupled RYR1 mutations in patients with central core disease.
Kraeva N et al.
Neuromuscular Disorders : Nmd, 2013
Variable myopathic presentation in a single family with novel skeletal RYR1 mutation.
Attali R et al.
Plos One, 2013
Search for genetic variants in the ryanodine receptor 1 gene in patients with symptomatic cerebral vasospasm after aneurysmal subarachnoid hemorrhage.
Rueffert H et al.
Neurocritical Care, 2011
Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms.
Duarte ST et al.
Muscle & Nerve, 2011
Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population.
Kraeva N et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2011
Increasing the number of diagnostic mutations in malignant hyperthermia.
Levano S et al.
Human Mutation, 2009
Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes.
Zullo A et al.
Human Mutation, 2009
Do motor control genes contribute to interindividual variability in decreased movement in patients with pain?
Mishra BK et al.
Molecular Pain, 2007
Functional effects of mutations identified in patients with multiminicore disease.
Zorzato F et al.
Iubmb Life, 2007
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R et al.
Human Mutation, 2006
Characterization of recessive RYR1 mutations in core myopathies.
Zhou H et al.
Human Molecular Genetics, 2006
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