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Page 1
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility.
Monnier N, Kozak-Ribbens G, Krivosic-Horber R, Nivoche Y, Qi D, Kraev N, Loke J, Sharma P, Tegazzin V, Figarella-Branger D, Roméro N, Mezin P, Bendahan D, Payen JF, Depret T, Maclennan DH, Lunardi J. Monnier N, et al. Among authors: nivoche y. Hum Mutat. 2005 Nov;26(5):413-25. doi: 10.1002/humu.20231. Hum Mutat. 2005. PMID: 16163667
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: nivoche y. Eur J Hum Genet. 2003 Apr;11(4):342-8. doi: 10.1038/sj.ejhg.5200964. Eur J Hum Genet. 2003. PMID: 12700608
A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene.
Ferreiro A, Monnier N, Romero NB, Leroy JP, Bönnemann C, Haenggeli CA, Straub V, Voss WD, Nivoche Y, Jungbluth H, Lemainque A, Voit T, Lunardi J, Fardeau M, Guicheney P. Ferreiro A, et al. Among authors: nivoche y. Ann Neurol. 2002 Jun;51(6):750-9. doi: 10.1002/ana.10231. Ann Neurol. 2002. PMID: 12112081
In vitro contracture test for diagnosis of malignant hyperthermia following the protocol of the European MH Group: results of testing patients surviving fulminant MH and unrelated low-risk subjects. The European Malignant Hyperthermia Group.
Ording H, Brancadoro V, Cozzolino S, Ellis FR, Glauber V, Gonano EF, Halsall PJ, Hartung E, Heffron JJ, Heytens L, Kozak-Ribbens G, Kress H, Krivosic-Horber R, Lehmann-Horn F, Mortier W, Nivoche Y, Ranklev-Twetman E, Sigurdsson S, Snoeck M, Stieglitz P, Tegazzin V, Urwyler A, Wappler F. Ording H, et al. Among authors: nivoche y. Acta Anaesthesiol Scand. 1997 Sep;41(8):955-66. doi: 10.1111/j.1399-6576.1997.tb04820.x. Acta Anaesthesiol Scand. 1997. PMID: 9311391
74 results