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

le Krivosic-Horber, René, Dalmas, Anne-Frédérique, Brasdefer, Etienne, Monnier, Nicole, Deken, Valérie
Foilsithe 2014

Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed i...

le Ducreux, Sylvie, Zorzato, Francesco, Ferreiro, Ana, Jungbluth, Heinz, Muntoni, Francesco, Monnier, Nicole, Müller, Clemens R., Treves, Susan
Foilsithe 2006

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms

le Ochala, Julien, Gokhin, David S., Pénisson-Besnier, Isabelle, Quijano-Roy, Susana, Monnier, Nicole, Lunardi, Joël, Romero, Norma B., Fowler, Velia M.
Foilsithe 2012

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

le 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
Foilsithe 2014

Severe congenital RYR1-associated myopathy: The expanding clinicopathologic and genetic spectrum

le Bharucha-Goebel, Diana Xerxes, Santi, Mariarita, Medne, Līvija, Zukosky, Kristin, Dastgir, Jahannaz, Shieh, Perry B., Winder, Thomas, Tennekoon, Gihan, Finkel, Richard S., Dowling, James J., Monnier, Nicole, Bönnemann, Carsten G.
Foilsithe 2013

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

le Clarke, Nigel F., Amburgey, Kimberly, Teener, James, Camelo-Piragua, Sandra, Kesari, Akanchha, Punetha, Jaya, Waddell, Leigh B., Davis, Mark, Laing, Nigel G., Monnier, Nicole, North, Kathryn N., Hoffman, Eric P., Dowling, James J.
Foilsithe 2013

Functional Characterization of a Central Core Disease RyR1 Mutation (p.Y4864H) Associated with Quantitative Defect in RyR1 Protein

le Cacheux, Marine, Blum, Ariane, Sébastien, Muriel, Wozny, Anne Sophie, Brocard, Julie, Mamchaoui, Kamel, Mouly, Vincent, Roux-Buisson, Nathalie, Rendu, John, Monnier, Nicole, Krivosic, Renée, Allen, Paul, Lacour, Arnaud, Lunardi, Joël, Fauré, Julien, Marty, Isabelle
Foilsithe in J Neuromuscul Dis (2015)

Exon Skipping as a Therapeutic Strategy Applied to an RYR1 Mutation with Pseudo-Exon Inclusion Causing a Severe Core Myopathy

le Rendu, John, Brocard, Julie, Denarier, Eric, Monnier, Nicole, Piétri-Rouxel, France, Beley, Cyriaque, Roux-Buisson, Nathalie, Gilbert-Dussardier, Brigitte, Perez, Marie José, Romero, Norma, Garcia, Luis, Lunardi, Joël, Fauré, Julien, Fourest-Lieuvin, Anne, Marty, Isabelle
Foilsithe 2013

Mutations and Polymorphisms of the Skeletal Muscle α-Actin Gene (ACTA1)

le Laing, Nigel G., Dye, Danielle E., Wallgren-Pettersson, Carina, Richard, Gabriele, Monnier, Nicole, Lillis, Suzanne, Winder, Thomas L., Lochmüller, Hanns, Graziano, Claudio, Mitrani-Rosenbaum, Stella, Tuomey, Darren, Sparrow, John C., Beggs, Alan H., Nowak, Kristen J.
Foilsithe 2009

An Integrated Diagnosis Strategy for Congenital Myopathies

le 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
Foilsithe 2013

TRPV1 variants impair intracellular Ca(2+) signaling and may confer susceptibility to malignant hyperthermia

le Vanden Abeele, Fabien, Lotteau, Sabine, Ducreux, Sylvie, Dubois, Charlotte, Monnier, Nicole, Hanna, Amy, Gkika, Dimitra, Romestaing, Caroline, Noyer, Lucile, Flourakis, Matthieu, Tessier, Nolwenn, Al-Mawla, Ribal, Chouabe, Christophe, Lefai, Etienne, Lunardi, Joël, Hamilton, Susan, Fauré, Julien, Van Coppenolle, Fabien, Prevarskaya, Natalia
Foilsithe in Genet Med (2018)

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

le 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
Foilsithe 2012

Mutation Update and Genotype–Phenotype Correlations of Novel and Previously Described Mutations in TPM2 and TPM3 Causing Congenital Myopathies

le Marttila, Minttu, Lehtokari, Vilma-Lotta, Marston, Steven, Nyman, Tuula A., Barnerias, Christine, Beggs, Alan H., Bertini, Enrico, Ceyhan-Birsoy, OÖzge, Cintas, Pascal, Gerard, Marion, Gilbert-Dussardier, Brigitte, Hogue, Jacob S., Longman, Cheryl, Eymard, Bruno, Frydman, Moshe, Kang, Peter B., Klinge, Lars, Kolski, Hanna, Lochmüller, Hans, Magy, Laurent, Manel, Véronique, Mayer, Michèle, Mercuri, Eugenio, North, Kathryn N., Peudenier-Robert, Sylviane, Pihko, Helena, Probst, Frank J., Reisin, Ricardo, Stewart, Willie, Taratuto, Ana Lia, de Visser, Marianne, Wilichowski, Ekkehard, Winer, John, Nowak, Kristen, Laing, Nigel G., Winder, Tom L., Monnier, Nicole, Clarke, Nigel F., Pelin, Katarina, Grönholm, Mikaela, Wallgren-Pettersson, Carina
Foilsithe 2014

Hereditary and acquired angioedema: Problems and progress: Proceedings of the third C1 esterase inhibitor deficiency workshop and beyond

le Agostoni, Angelo, Aygören-Pürsün, Emel, Binkley, Karen E., Blanch, Alvaro, Bork, Konrad, Bouillet, Laurence, Bucher, Christoph, Castaldo, Anthony J, Cicardi, Marco, Davis, Alvin E, De Carolis, Caterina, Drouet, Christian, Duponchel, Christiane, Farkas, Henriette, Fáy, Kálmán, Fekete, Béla, Fischer, Bettina, Fontana, Luigi, Füst, George, Giacomelli, Roberto, Gröner, Albrecht, Erik Hack, C., Harmat, George, Jakenfelds, John, Juers, Mathias, Kalmár, Lajos, Kaposi, Pál N., Karádi, István, Kitzinger, Arianna, Kollár, Tímea, Kreuz, Wolfhart, Lakatos, Peter, Longhurst, Hilary J., Lopez-Trascasa, Margarita, Martinez-Saguer, Inmaculada, Monnier, Nicole, Nagy, István, Németh, Éva, Nielsen, Erik Waage, Nuijens, Jan H., O'Grady, Caroline, Pappalardo, Emanuela, Penna, Vincenzo, Perricone, Carlo, Perricone, Roberto, Rauch, Ursula, Roche, Olga, Rusicke, Eva, Späth, Peter J, Szendei, George, Takács, Edit, Tordai, Attila, Truedsson, Lennart, Varga, Lilian, Visy, Beáta, Williams, Kayla, Zanichelli, Andrea, Zingale, Lorenza
Foilsithe in J Allergy Clin Immunol (2004)