Malignant hyperthermia mutations and correlation with the severity of the anesthetic complication and the level of the in vitro contracture tests

by Krivosic-Horber, René, Dalmas, Anne-Frédérique, Brasdefer, Etienne, Monnier, Nicole, Deken, Valérie
Published 2014

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

by Romero, Norma B, Xie, Ting, Malfatti, Edoardo, Schaeffer, Ursula, Böhm, Johann, Wu, Bin, Xu, Fengping, Boucebci, Samy, Mathis, Stéphane, Neau, Jean-Philippe, Monnier, Nicole, Fardeau, Michel, Laporte, Jocelyn
Published 2014

Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human

by Roux-Buisson, Nathalie, Cacheux, Marine, Fourest-Lieuvin, Anne, Fauconnier, Jeremy, Brocard, Julie, Denjoy, Isabelle, Durand, Philippe, Guicheney, Pascale, Kyndt, Florence, Leenhardt, Antoine, Le Marec, Hervé, Lucet, Vincent, Mabo, Philippe, Probst, Vincent, Monnier, Nicole, Ray, Pierre F., Santoni, Elodie, Trémeaux, Pauline, Lacampagne, Alain, Fauré, Julien, Lunardi, Joël, Marty, Isabelle
Published 2012

An Integrated Diagnosis Strategy for Congenital Myopathies

by Böhm, Johann, Vasli, Nasim, Malfatti, Edoardo, Le Gras, Stéphanie, Feger, Claire, Jost, Bernard, Monnier, Nicole, Brocard, Julie, Karasoy, Hatice, Gérard, Marion, Walter, Maggie C., Reilich, Peter, Biancalana, Valérie, Kretz, Christine, Messaddeq, Nadia, Marty, Isabelle, Lunardi, Joël, Romero, Norma B., Laporte, Jocelyn
Published 2013