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Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor.
Eltit JM, Bannister RA, Moua O, Altamirano F, Hopkins PM, Pessah IN, Molinski TF, López JR, Beam KG, Allen PD. Eltit JM, et al. Among authors: hopkins pm. Proc Natl Acad Sci U S A. 2012 May 15;109(20):7923-8. doi: 10.1073/pnas.1119207109. Epub 2012 Apr 30. Proc Natl Acad Sci U S A. 2012. PMID: 22547813 Free PMC article.
Assessing the pathogenicity of RYR1 variants in malignant hyperthermia.
Merritt A, Booms P, Shaw MA, Miller DM, Daly C, Bilmen JG, Stowell KM, Allen PD, Steele DS, Hopkins PM. Merritt A, et al. Among authors: hopkins pm. Br J Anaesth. 2017 Apr 1;118(4):533-543. doi: 10.1093/bja/aex042. Br J Anaesth. 2017. PMID: 28403410 Free PMC article.
Malignant hyperthermia.
Hopkins PM, Gupta PK, Bilmen JG. Hopkins PM, et al. Handb Clin Neurol. 2018;157:645-661. doi: 10.1016/B978-0-444-64074-1.00038-0. Handb Clin Neurol. 2018. PMID: 30459030 Review.
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. Johnston JJ, et al. Among authors: hopkins pm. Genet Med. 2021 Jul;23(7):1288-1295. doi: 10.1038/s41436-021-01125-w. Epub 2021 Mar 25. Genet Med. 2021. PMID: 33767344 Free PMC article.
Ryanodine receptor leak triggers fiber Ca2+ redistribution to preserve force and elevate basal metabolism in skeletal muscle.
Lamboley CR, Pearce L, Seng C, Meizoso-Huesca A, Singh DP, Frankish BP, Kaura V, Lo HP, Ferguson C, Allen PD, Hopkins PM, Parton RG, Murphy RM, van der Poel C, Barclay CJ, Launikonis BS. Lamboley CR, et al. Among authors: hopkins pm. Sci Adv. 2021 Oct 29;7(44):eabi7166. doi: 10.1126/sciadv.abi7166. Epub 2021 Oct 27. Sci Adv. 2021. PMID: 34705503 Free PMC article.
259 results