HuGE Literature Finder
Records 1-22
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Effects on BMI and regional prevalence of malignant hyperthermia pathogenic ryanodine receptor type 1 sequence variants in Switzerland: A retrospective cohort analysis.
European journal of anaesthesiology 2020 Nov . Gonzalez Asensio, Girard Thierry, Dell-Kuster Salome, Urwyler Albert, Bandschapp Oliv |
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Investigating the genetic susceptibility to exertional heat illness.
Journal of medical genetics 2020 Feb . Gardner Lois, Miller Dorota M, Daly Catherine, Gupta Pawan K, House Carol, Roiz de Sa Daniel, Shaw Marie-Anne, Hopkins Philip |
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An Assessment of Penetrance and Clinical Expression of Malignant Hyperthermia in Individuals Carrying Diagnostic Ryanodine Receptor 1 Gene Mutations.
Anesthesiology 2019 Jun . Ibarra Moreno Carlos A, Hu Sally, Kraeva Natalia, Schuster Frank, Johannsen Stephan, Rueffert Henrik, Klingler Werner, Heytens Luc, Riazi Shei |
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Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia.
Journal of anesthesia 2018 Jan . Kondo Takashi, Yasuda Toshimichi, Mukaida Keiko, Otsuki Sachiko, Kanzaki Rieko, Miyoshi Hirotsugu, Hamada Hiroshi, Nishino Ichizo, Kawamoto Masas |
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High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2017 Jul . Coburger Jan, Kapapa Thomas, Wirtz Cristian Rainer, Jurkat-Rott Karin, Klingler Wern |
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Sequencing of genes involved in the movement of calcium across human skeletal muscle sarcoplasmic reticulum: continuing the search for genes associated with malignant hyperthermia.
Anaesthesia and intensive care 2016 Nov 44 (6): 762-768. Bjorksten A R, Gillies R L, Hockey B M, Du Sart |
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Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.
Neuromuscular disorders : NMD 2015 Jul 25 (7): 567-76. Kraeva N, Heytens L, Jungbluth H, Treves S, Voermans N, Kamsteeg E, Ceuterick-de Groote C, Baets J, Riazi |
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Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness.
Anesthesiology 2015 May 122 (5): 1033-46. Fiszer Dorota, Shaw Marie-Anne, Fisher Nickla A, Carr Ian M, Gupta Pawan K, Watkins Elizabeth J, Roiz de Sa Daniel, Kim Jerry H, Hopkins Philip |
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[Homozygous and compound heterozygous RYR1 mutations. New findings on prevalence and penetrance of malignant hyperthermia].
Der Anaesthesist 2014 Sep 63 (8-9): 643-50. Wolak S, Rücker B, Kohlschmidt N, Doetsch S, Bartsch O, Zechner U, Tzanova |
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Functional and genetic characterization of clinical malignant hyperthermia crises: a multi-centre study.
Orphanet journal of rare diseases 2014 9 8. Klingler Werner, Heiderich Sebastian, Girard Thierry, Gravino Elvira, Heffron James Ja, Johannsen Stephan, Jurkat-Rott Karin, Rüffert Henrik, Schuster Frank, Snoeck Marc, Sorrentino Vincenzo, Tegazzin Vincenzo, Lehmann-Horn Fra |
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Using exome data to identify malignant hyperthermia susceptibility mutations.
Anesthesiology 2013 Nov 119 (5): 1043-53. Gonsalves Stephen G, Ng David, Johnston Jennifer J, Teer Jamie K, Stenson Peter D, Cooper David N, Mullikin James C, Biesecker Leslie G, |
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Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States.
Anesthesia and analgesia 2013 May 116 (5): 1078-86. Brandom Barbara W, Bina Saiid, Wong Cynthia A, Wallace Tarina, Visoiu Mihaela, Isackson Paul J, Vladutiu Georgirene D, Sambuughin Nyamkhishig, Muldoon Sheila |
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CASQ1 gene is an unlikely candidate for malignant hyperthermia susceptibility in the North American population.
Anesthesiology 2013 Feb 118 (2): 344-9. Kraeva Natalia, Zvaritch Elena, Frodis Wanda, Sizova Olga, Kraev Alexander, MacLennan David H, Riazi Shei |
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JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.
Human mutation 2013 Jan 34 (1): 184-90. Yasuda Toshimichi, Delbono Osvaldo, Wang Zhong-Min, Messi Maria L, Girard Thierry, Urwyler Albert, Treves Susan, Zorzato Frances |
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Genetic variation in RYR1 and malignant hyperthermia phenotypes.
British journal of anaesthesia 2009 Oct 103 (4): 538-48. Carpenter D, Robinson R L, Quinnell R J, Ringrose C, Hogg M, Casson F, Booms P, Iles D E, Halsall P J, Steele D S, Shaw M-A, Hopkins P |
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Increasing the number of diagnostic mutations in malignant hyperthermia.
Human mutation 2009 Apr 30 (4): 590-8. Levano Soledad, Vukcevic Mirko, Singer Martine, Matter Anja, Treves Susan, Urwyler Albert, Girard Thier |
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Analysis of RYR1 haplotype profile in patients with malignant hyperthermia.
Annals of human genetics 2009 Jan 73 (1): 10-8. Carpenter D, Morris A, Robinson R L, Booms P, Iles D, Halsall P J, Steele D, Hopkins P M, Shaw M |
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The role of CACNA1S in predisposition to malignant hyperthermia.
BMC medical genetics 2009 10 (1): 104. Carpenter Danielle, Ringrose Christopher, Leo Vincenzo, Morris Andrew, Robinson Rachel L, Halsall P Jane, Hopkins Philip M, Shaw Marie-An |
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Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.
Human mutation 2006 Aug 27 (8): 830. Galli Lucia, Orrico Alfredo, Lorenzini Stefania, Censini Stefano, Falciani Michela, Covacci Antonello, Tegazzin Vincenzo, Sorrentino Vincen |
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Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene.
Anesthesiology 2004 Oct 101 (4): 824-30. Sei Yoshitatsu, Sambuughin Nyamkhishig N, Davis Edward J, Sachs Daniel, Cuenca Phil B, Brandom Barbara W, Tautz Timothy, Rosenberg Henry, Nelson Thomas E, Muldoon Sheila |
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Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations.
Acta anaesthesiologica Scandinavica 2002 Jul 46 (6): 692-8. Rueffert Henrik, Olthoff D, Deutrich C, Meinecke C D, Froster U |
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Genetic risk for malignant hyperthermia in non-anesthesia-induced myopathies.
Molecular genetics and metabolism 0 104 (1-2): 167-73. Vladutiu Georgirene D, Isackson Paul J, Kaufman Kenneth, Harley John B, Cobb Beth, Christopher-Stine Lisa, Wortmann Robert |
- Page last reviewed:Oct 1, 2020
- Page last updated:Mar 03, 2021
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