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Recent advances in the diagnosis of malignant hyperthermia susceptibility: how confident can we be of genetic testing?
Robinson RL, Anetseder MJ, Brancadoro V, van Broekhoven C, Carsana A, Censier K, Fortunato G, Girard T, Heytens L, Hopkins PM, Jurkat-Rott K, Klinger W, Kozak-Ribbens G, Krivosic R, Monnier N, Nivoche Y, Olthoff D, Rueffert H, Sorrentino V, Tegazzin V, Mueller CR. Robinson RL, et al. Among authors: girard t. Eur J Hum Genet. 2003 Apr;11(4):342-8. doi: 10.1038/sj.ejhg.5200964. Eur J Hum Genet. 2003. PMID: 12700608
Core myopathies and risk of malignant hyperthermia.
Klingler W, Rueffert H, Lehmann-Horn F, Girard T, Hopkins PM. Klingler W, et al. Among authors: girard t. Anesth Analg. 2009 Oct;109(4):1167-73. doi: 10.1213/ANE.0b013e3181b5ae2d. Anesth Analg. 2009. PMID: 19762745 Review.
Consensus guidelines on perioperative management of malignant hyperthermia suspected or susceptible patients from the European Malignant Hyperthermia Group.
Rüffert H, Bastian B, Bendixen D, Girard T, Heiderich S, Hellblom A, Hopkins PM, Johannsen S, Snoeck MM, Urwyler A, Glahn KPE; European Malignant Hyperthermia Group. Rüffert H, et al. Among authors: girard t. Br J Anaesth. 2021 Jan;126(1):120-130. doi: 10.1016/j.bja.2020.09.029. Epub 2020 Oct 31. Br J Anaesth. 2021. PMID: 33131754 Free article.
Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Hopkins PM, Kraeva N, Ognoon M, Radenbaugh KB, Riazi S, Robinson RL, Saddic Iii LA, Sambuughin N, Saxena R, Shepherd S, Stowell K, Weber J, Yoo S, Rosenberg H, Biesecker LG. Johnston JJ, et al. Among authors: girard t. Hum Mol Genet. 2022 Nov 28;31(23):4087-4093. doi: 10.1093/hmg/ddac145. Hum Mol Genet. 2022. PMID: 35849058 Free PMC article.
499 results