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Human Mutation, ISSN 1059-7794, 10/2006, Volume 27, Issue 10, pp. 977 - 989
Journal Article
Journal of neurology, ISSN 0340-5354, 2013, Volume 260, Issue 6, pp. 1504 - 1510
Journal Article
Journal Article
Journal Article
Journal Article
Anesthesiology, ISSN 0003-3022, 11/2019, Volume 131, Issue 5, pp. 983 - 991
BACKGROUND:Malignant hyperthermia (MH) is a potentially lethal disorder triggered by certain anesthetics. Mutations in the ryanodine receptor 1 (RYR1) gene... 
RYR1 | HYPER-PYREXIA | GENOTYPE | SUSCEPTIBILITY | PHENOTYPE | ANESTHESIOLOGY | ANESTHETICS | PATIENT | PREVALENCE | CACNA1S | VARIANT
Journal Article
Journal of Neurology, ISSN 0340-5354, 2019, Volume 266, Issue 4, pp. 876 - 887
Journal Article
Journal Article
by Böhm, Johann and Biancalana, Valérie and DeChene, Elizabeth T and Bitoun, Marc and Pierson, Christopher R and Schaefer, Elise and Karasoy, Hatice and Dempsey, Melissa A and Klein, Fabrice and Dondaine, Nicolas and Kretz, Christine and Haumesser, Nicolas and Poirson, Claire and Toussaint, Anne and Greenleaf, Rebecca S and Barger, Melissa A and Mahoney, Lane J and Kang, Peter B and Zanoteli, Edmar and Vissing, John and Witting, Nanna and Echaniz‐Laguna, Andoni and Wallgren‐Pettersson, Carina and Dowling, James and Merlini, Luciano and Oldfors, Anders and Bomme Ousager, Lilian and Melki, Judith and Krause, Amanda and Jern, Christina and Oliveira, Acary S. B and Petit, Florence and Jacquette, Aurélia and Chaussenot, Annabelle and Mowat, David and Leheup, Bruno and Cristofano, Michele and Poza Aldea, Juan José and Michel, Fabrice and Furby, Alain and Llona, Jose E. Barcena and Van Coster, Rudy and Bertini, Enrico and Urtizberea, Jon Andoni and Drouin‐Garraud, Valérie and Béroud, Christophe and Prudhon, Bernard and Bedford, Melanie and Mathews, Katherine and Erby, Lori A. H and Smith, Stephen A and Roggenbuck, Jennifer and Crowe, Carol A and Brennan Spitale, Allison and Johal, Sheila C and Amato, Anthony A and Demmer, Laurie A and Jonas, Jessica and Darras, Basil T and Bird, Thomas D and Laurino, Mercy and Welt, Selman I and Trotter, Cynthia and Guicheney, Pascale and Das, Soma and Mandel, Jean‐Louis and Beggs, Alan H and Laporte, Jocelyn and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Pathology and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy and Institutionen för biomedicin, avdelningen för patologi and Sahlgrenska akademin
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 949 - 959
Journal Article