Items where Author is "Treves, S."

2016

Scalco, R. S. and Snoeck, M. and Quinlivan, R. and Treves, S. and Laforet, P. and Jungbluth, H. and Voermans, N. C.. (2016) Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? BMJ Open Sport Exerc Med, 2 (1). e000151.

2015

Sekulic, M. and Palmowski-Wolfe, A. and Zorzato, F. and Treves, S.. (2015) Characterization of excitation-contraction coupling components in human extraocular muscles. Biochemical Journal, 466 (1). pp. 29-36.

Kraeva, N. and Heytens, L. and Jungbluth, H. and Treves, S. and Voermans, N. and Kamsteeg, C. and Ceuterick-de Groote, C. and Baets, J. and Riaz, S.. (2015) Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy. Neuromuscular Disorders, 25 (7). pp. 567-576.

Snoek, M. and van Engelen, B. G. M. and Küsters, B. and Lammens, M. and Meijer, R. and Molenaar, J. P. F. and Raaphorst, J. and Verschuuren-Bemelmans, C. C. and Straathof, C. S. M. and Sie, L. T. L. and de Coo, I. F. and van der Pol, W. L. and de Visser, M. and Scheffer, H. and Treves, S. and Jungbluth, H. and Voermans, N. and Kamsteef, E.-J.. (2015) RYR1‐related myopathies: a wide spectrum of phenotypes throughout life. European Journal of Neurology, 22 (7). pp. 1094-1112.

2013

Rokach, O. and Ullrich, N. D. and Rausch, M. and Mouly, V. and Zhou, H. and Muntoni, F. and Zorzato, F. and Treves, S.. (2013) Establishment of a human skeletal muscle-derived cell line : biochemical, cellular and electrophysiological characterization. Biochemical Journal , 455 (2). pp. 169-177.

Vukcevic, M. and Zorzato, F. and Keck, S. and Tsakiris, D. A. and Keiser, J. and Maizels, R. M. and Treves, S.. (2013) Gain of function in the immune system caused by a ryanodine receptor 1 mutation. Journal of cell science, 126 (15). pp. 3485-3492.

Yasuda, T. and Delbono, O. and Wang, Z. M. and Messi, M. L. and Girard, T. and Urwyler, A. and Treves, S. and Zorzato, F.. (2013) JP-45/JSRP1 Variants Affect Skeletal Muscle Excitation–Contraction Coupling by Decreasing the Sensitivity of the Dihydropyridine Receptor. Human Mutation, 34 (1). pp. 184-190.

Zhou, H. and Rokach, O. and Feng, L. and Munteanu, I. and Mamchaoui, K. and Wilmshurst, J. M. and Sewry, C. and Manzur, A. Y. and Pillay, K. and Mouly, V. and Duchen, M. and Jungbluth, H. and Treves, S. and Muntoni, F.. (2013) RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling. Human Mutation, 34 (7). pp. 986-996.

Attali, R. and Aharoni, S. and Treves, S. and Rokach, O. and Becker Cohen, M. and Fellig, Y. and Straussberg, R. and Dor, T. and Daana, M. and Mitrani-Rosenbaum, S. and Nevo, Y.. (2013) Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation. PLoS ONE, 8 (7). e69296.

2012

Schmidt, N. and Basu, S. and Sladecek, S. and Gatti, S. and van Haren, J. and Treves, S. and Pielage, J. and Galjart, N. and Brenner, H. R.. (2012) Agrin regulates CLASP2-mediated capture of microtubules at the neuromuscular junction synaptic membrane. Journal of Cell Biology, 198 (3). pp. 421-437.

Hwang, J. H. and Zorzato, F. and Clarke, N. F. and Treves, S.. (2012) Mapping domains and mutations on the skeletal muscle ryanodine receptor channel. Trends in Molecular Medicine, 18 (11). pp. 644-657.

2011

Ullrich, N. D. and Fischer, D. and Kornblum, C. and Walter, M. C. and Niggli, E. and Zorzato, F. and Treves, S.. (2011) Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle. Human Mutation, 32 (3). pp. 309-317.

Treves, S. and Vukcevic, M. and Jeannet, P. Y. and Levano, S. and Girard, T. and Urwyler, A. and Fischer, D. and Voit, T. and Jungbluth, H. and Lillis, S. and Muntoni, F. and Quinlivan, R. and Sarkozy, A. and Bushby, K. and Zorzato, F.. (2011) Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease. Human Molecular Genetics, 20 (3). pp. 589-600.

Broman, M. and Heinecke, K. and Islander, G. and Schuster, F. and Glahn, K. and Bodelsson, M. and Treves, S. and Muller, C.. (2011) Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis. Anesthesia and Analgesia , 113 (5). pp. 1120-1128.

2008

Vukcevic, M. and Spagnoli, G. C. and Iezzi, G. and Zorzato, F. and Treves, S.. (2008) Ryanodine receptor activation by Cav1.2 Is involved in dendritic cell major histocompatibility complex class II urface expression. Journal of Biological Chemistry, 283. pp. 34913-34922.

2007

Bracci, L. and Vukcevic, M. and Spagnoli, G. and Ducreux, S. and Zorzato, F. and Treves, S.. (2007) Ca2+ signaling through ryanodine receptor 1 enhances maturation and activation of human dendritic cells. Journal of Cell Science, 120 (13). pp. 2232-2240.