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Year | Number of Results |
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2009 | 1 |
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2021 | 1 |
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The role of CACNA1S in predisposition to malignant hyperthermia.
BMC Med Genet. 2009 Oct 13;10:104. doi: 10.1186/1471-2350-10-104.
BMC Med Genet. 2009.
PMID: 19825159
Free PMC article.
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.
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.
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Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Klingler W, Heiderich S, Girard T, Gravino E, Heffron JJ, Johannsen S, Jurkat-Rott K, Rüffert H, Schuster F, Snoeck M, Sorrentino V, Tegazzin V, Lehmann-Horn F.
Klingler W, et al.
Orphanet J Rare Dis. 2014 Jan 16;9:8. doi: 10.1186/1750-1172-9-8.
Orphanet J Rare Dis. 2014.
PMID: 24433488
Free PMC article.
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Resequencing array for gene variant detection in malignant hyperthermia and butyrylcholinestherase deficiency.
Levano S, Gonzalez A, Singer M, Demougin P, Rüffert H, Urwyler A, Girard T.
Levano S, et al.
Neuromuscul Disord. 2017 May;27(5):492-499. doi: 10.1016/j.nmd.2017.02.008. Epub 2017 Feb 21.
Neuromuscul Disord. 2017.
PMID: 28259615
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Genetic epidemiology of malignant hyperthermia in the UK.
Miller DM, Daly C, Aboelsaod EM, Gardner L, Hobson SJ, Riasat K, Shepherd S, Robinson RL, Bilmen JG, Gupta PK, Shaw MA, Hopkins PM.
Miller DM, et al.
Br J Anaesth. 2018 Oct;121(4):944-952. doi: 10.1016/j.bja.2018.06.028. Epub 2018 Aug 17.
Br J Anaesth. 2018.
PMID: 30236257
Free PMC article.
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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe K, Jurkat-Rott K, Kranepuhl S, Wearing S, Heiderich S, Merlak S, Klingler W.
Hoppe K, et al.
Sci Rep. 2021 Feb 9;11(1):3445. doi: 10.1038/s41598-021-82024-7.
Sci Rep. 2021.
PMID: 33564012
Free PMC article.
Clinical Trial.
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