Items where Author is "Ducreux, Sylvie"

2007

Lyfenko, Alla D. and Ducreux, Sylvie and Wang, Ying and Xu, Le and Zorzato, Francesco and Ferreiro, Ana and Meissner, Gerhard and Treves, Susan and Dirksen, Robert T.. (2007) Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms. Human Mutation, 28 (1). pp. 61-68.

2006

Ducreux, Sylvie. Functional effects of mutations in the skeletal muscle ryanodine receptor type 1 (RYR1) linked to malignant hyperthermia and central core disease. 2006, Doctoral Thesis, University of Basel, Faculty of Science.

Ducreux, Sylvie and Zorzato, Francesco and Ferreiro, Ana and Jungbluth, Heinz and Muntoni, Francesco and Monnier, Nicole and Müller, Clemens R. and Treves, Susan. (2006) Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes. Biochemical Journal, 395 (2). pp. 259-266.

2005

Treves, Susan and Anderson, Ayuk A. and Ducreux, Sylvie and Divet, Alexandra and Bleunven, Christophe and Grasso, Cristiano and Paesante, Silvia and Zorzato, Francesco. (2005) Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscular Disorders, 15 (9-10). pp. 577-587.

2004

Ducreux, Sylvie and Zorzato, Francesco and Müller, Clemens and Sewry, Caroline and Muntoni, Francesco and Quinlivan, Ros and Restagno, Gabriella and Girard, Thierry and Treves, Susan. (2004) Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease. Journal of Biological Chemistry, 279 (42). pp. 43838-43846.

Treves, Susan and Franzini-Armstrong, Clara and Moccagatta, Luca and Arnoult, Christophe and Grasso, Cristiano and Schrum, Adam and Ducreux, Sylvie and Zhu, Michael X. and Mikoshiba, Katsuhiko and Girard, Thierry and Smida-Rezgui, Sophia and Ronjat, Michel and Zorzato, Francesco. (2004) Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion. Journal of Cell Biology, 166 (4). pp. 537-548.