Publications
Showing records 1 - 20 (of 66)
Publication: JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
ID
Author
Year
Title
Publisher
4209724 Ruiz, Alexis; Dror, Erez; Handschin, Christoph; Furrer, Regula; Perez-Schindler, Joaquin; Bachmann, Christoph; Treves, Susan; Zorzato, Francesco
2018
Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance
Scientific Reports
4408197 Bachmann, Christoph; Jungbluth, Heinz; Muntoni, Francesco; Manzur, Adnan Y.; Zorzato, Francesco; Treves, Susan
2017
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations
Human molecular genetics
4408194 Schartner, Vanessa; Romero, Norma B.; Donkervoort, Sandra; Treves, Susan; Munot, Pinki; Pierson, Tyler Mark; Dabaj, Ivana; Malfatti, Edoardo; Zaharieva, Irina T.; Zorzato, Francesco; Abath Neto, Osorio; Brochier, Guy; Lornage, Xavière; Eymard, Bruno; Taratuto, Ana Lia; Bohm, Johann; Gonorazky, Hernan; Ramos-Platt, Leigh; Feng, Lucy; Phadke, Rahul; Bharucha-Goebel, Diana X.; Sumner, Charlotte Jane; Bui, Mai Thao; Lacene, Emmanuelle; Beuvin, Maud; Labasse, Clémence; Dondaine, Nicolas; Schneider, Raphael; Thompson, Julie; Boland, A.; Deleuze, Jean-François; Matthews, Emma; Pakleza, Aleksandra Nadaj; Sewry, Caroline A.; Biancalana, Valérie; Quijano-Roy, Susana; Muntoni, Francesco; Fardeau, Michel; Bönnemann, Carsten G.; Laporte, Jocelyn
2017
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy
Acta neuropathologica
3623963 Johansen, Stephan; Treves, Susan; Müller, Clemens R.; Mögele, Susanne; Schneiderbanger, Daniel; Roewer, Norbert; Schuster, Frank
2016
Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia
Neuromuscular Disorders
4408198 Scalco, R. S.; Snoeck, M.; Quinlivan, R.; Treves, S.; Laforet, P.; Jungbluth, H.; Voermans, N. C.
2016
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?
BMJ Open Sport Exerc Med
3623969 Lopez, Rubén J.; Byrne, Susan; Vukcevic, Mirko; Sekulic-Jablanovic, Marijana; Xu, Lifen; Brink, Marijke; Alamelu, Jay; Voermans, Nicol; Snoeck, Marc; Clement, Emma; Muntoni, Francesco; Zhou, Haiyan; Radunovic, Aleksandar; Mohammed, Shehla; Wraige, Elizabeth; Zorzato, Francesco; Treves, Susan; Jungbluth, Heinz
2016
An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities
Science Signaling
3623967 Sekulic-Jablanovic, Marijana; Ullrich, Nina D.; Goldblum, David; Palmowski-Wolfe, Anja; Zorzato, Francesco; Treves, Susan
2016
Functional characterization of orbicularis oculi and extraocular muscles
Journal of General Physiology
3623964 Wang, Min; Keogh, Adrian; Treves, Susan; Idle, Jeffrey R.; Beyoglu, Diren
2016
The metabolomic profile of gamma-irradiated human hepatoma and muscle cells reveals metabolic changes consistent with the Warburg effect
PeerJ
3623968 Mosca, Barbara; Eckhardt, Jan; Bergamelli, Leda; Treves, Susan; Bongianino, Rossana; De Negri, Marco; Priori, Silvia G.; Protasi, Feliciano; Zorzato, Francesco
2016
Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles
Journal of Biological Chemistry
3623960 Snoek, M.; van Engelen, B. G. M.; Küsters, B.; Lammens, M.; Meijer, R.; Molenaar, J. P. F.; Raaphorst, J.; Verschuuren-Bemelmans, C. C.; Straathof, C. S. M.; Sie, L. T. L.; de Coo, I. F.; van der Pol, W. L.; de Visser, M.; Scheffer, H.; Treves, S.; Jungbluth, H.; Voermans, N.; Kamsteef, E.-J.
2015
RYR1‐related myopathies: a wide spectrum of phenotypes throughout life
European Journal of Neurology
3623961 Rokach, Ori; Sekulic-Jablanovic, Marijana; Voermans, Nicol; Wilmshurst, Jo; Pillay, Komala; Heytens, Luc; Zhou, Haiyan; Muntoni, Francesco; Gautel, Mathias; Nevo, Yoram; Mitrani-Rosenbaum, Stella; Attali, Ruben; Finotti, Alessia; Gambari, Roberto; Mosca, Barbara; Jungbluth, Heinz; Zorzato, Francesco; Treves, Susan
2015
Epigenetic changes as a common trigger of muscle weakness in congenital myopathies
Human Molecular Genetics
3623957 Sekulic, M.; Palmowski-Wolfe, A.; Zorzato, F.; Treves, S.
2015
Characterization of excitation-contraction coupling components in human extraocular muscles
Biochemical Journal
3623954 Kraeva, N.; Heytens, L.; Jungbluth, H.; Treves, S.; Voermans, N.; Kamsteeg, C.; Ceuterick-de Groote, C.; Baets, J.; Riaz, S.
2015
Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy
Neuromuscular Disorders
2775194 Lopez, R. J.; Mosca, B.; Treves, S.; Maj, M.; Bergamelli, L.; Calderon, J. C.; Bentzinger, C. F.; Romanino, K.; Hall, M. N.; Rüegg, M. A.; Delbono, O.; Caputo, C.; Zorzato, F.
2015
Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex
Biochemical Journal
2164727 Eken, Ceylan; Sadallah, Salima; Martin, Perrine J.; Treves, Susan; Schifferli, Jurg A.
2013
Ectosomes of polymorphonuclear neutrophils activate multiple signaling pathways in macrophages
Immunobiology
2832614 Rokach, O.; Ullrich, N. D.; Rausch, M.; Mouly, V.; Zhou, H.; Muntoni, F.; Zorzato, F.; Treves, S.
2013
Establishment of a human skeletal muscle-derived cell line : biochemical, cellular and electrophysiological characterization
Biochemical Journal
2158999 Zhou, H.; Rokach, O.; Feng, L.; Munteanu, I.; Mamchaoui, K.; Wilmshurst, J. M.; Sewry, C.; Manzur, A. Y.; Pillay, K.; Mouly, V.; Duchen, M.; Jungbluth, H.; Treves, S.; Muntoni, F.
2013
RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling
Human Mutation
2159002 Yasuda, T.; Delbono, O.; Wang, Z. M.; Messi, M. L.; Girard, T.; Urwyler, A.; Treves, S.; Zorzato, F.
2013
JP-45/JSRP1 Variants Affect Skeletal Muscle Excitation–Contraction Coupling by Decreasing the Sensitivity of the Dihydropyridine Receptor
Human Mutation
2832615 Mosca, Barbara; Delbono, Osvaldo; Laura Messi, Maria; Bergamelli, Leda; Wang, Zhong-Min; Vukcevic, Mirko; Lopez, Ruben; Treves, Susan; Nishi, Miyuki; Takeshima, Hiroshi; Paolini, Cecilia; Martini, Marta; Rispoli, Giorgio; Protasi, Feliciano; Zorzato, Francesco
2013
Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice
Nature Communications
2089061 Vukcevic, M.; Zorzato, F.; Keck, S.; Tsakiris, D. A.; Keiser, J.; Maizels, R. M.; Treves, S.
2013
Gain of function in the immune system caused by a ryanodine receptor 1 mutation
Journal of cell science
Showing records 1 - 20 (of 66)
