RYR1 mutations are a common cause of congenital myopathies with central nuclei JM Wilmshurst, S Lillis, H Zhou, K Pillay, H Henderson, W Kress, ... Annals of neurology 68 (5), 717-726, 2010 | 290 | 2010 |
Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction H Jungbluth, S Treves, F Zorzato, A Sarkozy, J Ochala, C Sewry, ... Nature Reviews Neurology 14 (3), 151-167, 2018 | 257 | 2018 |
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis N Dlamini, NC Voermans, S Lillis, K Stewart, EJ Kamsteeg, G Drost, ... Neuromuscular Disorders 23 (7), 540-548, 2013 | 226 | 2013 |
Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies H Zhou, H Jungbluth, CA Sewry, L Feng, E Bertini, K Bushby, V Straub, ... Brain 130 (8), 2024-2036, 2007 | 201 | 2007 |
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium … N Tilgen, F Zorzato, B Halliger-Keller, F Muntoni, C Sewry, LM Palmucci, ... Human molecular genetics 10 (25), 2879-2887, 2001 | 188 | 2001 |
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm S Treves, H Jungbluth, F Muntoni, F Zorzato Current opinion in pharmacology 8 (3), 319-326, 2008 | 177 | 2008 |
Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders S Treves, AA Anderson, S Ducreux, A Divet, C Bleunven, C Grasso, ... Neuromuscular Disorders 15 (9-10), 577-587, 2005 | 164 | 2005 |
Chlorocresol: an activator of ryanodine receptor-mediated Ca2+ release. F Zorzato, E Scutari, V Tegazzin, E Clementi, S Treves Molecular pharmacology 44 (6), 1192-1201, 1993 | 164 | 1993 |
Activation of endoplasmic reticulum stress response by hepatitis viruses up‐regulates protein phosphatase 2A V Christen, S Treves, FHT Duong, MH Heim Hepatology 46 (2), 558-565, 2007 | 157 | 2007 |
RYR1‐related myopathies: a wide spectrum of phenotypes throughout life M Snoeck, BGM Van Engelen, B Küsters, M Lammens, R Meijer, ... European journal of neurology 22 (7), 1094-1112, 2015 | 154 | 2015 |
Junctate is a key element in calcium entry induced by activation of InsP3 receptors and/or calcium store depletion S Treves, C Franzini-Armstrong, L Moccagatta, C Arnoult, C Grasso, ... The Journal of cell biology 166 (4), 537-548, 2004 | 149 | 2004 |
Ectosomes released by polymorphonuclear neutrophils induce a MerTK-dependent anti-inflammatory pathway in macrophages C Eken, PJ Martin, S Sadallah, S Treves, M Schaller, JA Schifferli Journal of Biological Chemistry 285 (51), 39914-39921, 2010 | 148 | 2010 |
Apoptosis is dependent on intracellular zinc and independent of intracellular calcium in lymphocytes S TREvEs, PL Trentini, M Ascanelli, G Bucci, F Di Virgilio Experimental cell research 211 (2), 339-343, 1994 | 146 | 1994 |
Interaction of S100A1 with the Ca2+ release channel (ryanodine receptor) of skeletal muscle S Treves, E Scutari, M Robert, S Groh, M Ottolia, G Prestipino, M Ronjat, ... Biochemistry 36 (38), 11496-11503, 1997 | 145 | 1997 |
Calreticulin is a candidate for a calsequestrin-like function in Ca2+-storage compartments (calciosomes) of liver and brain S Treves, M De Mattei, M Landfredi, A Villa, NM Green, DH MacLennan, ... Biochemical Journal 271 (2), 473-480, 1990 | 135 | 1990 |
Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy? RS Scalco, M Snoeck, R Quinlivan, S Treves, P Laforét, H Jungbluth, ... BMJ open sport & exercise medicine 2 (1), e000151, 2016 | 132 | 2016 |
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene H Jungbluth, H Zhou, CA Sewry, S Robb, S Treves, M Bitoun, ... Neuromuscular Disorders 17 (4), 338-345, 2007 | 131 | 2007 |
Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and … S Ducreux, F Zorzato, C Muller, C Sewry, F Muntoni, R Quinlivan, ... Journal of Biological Chemistry 279 (42), 43838-43846, 2004 | 127 | 2004 |
Molecular cloning, expression, functional characterization, chromosomal localization, and gene structure of junctate, a novel integral calcium binding protein of sarco (endo … S Treves, G Feriotto, L Moccagatta, R Gambari, F Zorzato Journal of Biological Chemistry 275 (50), 39555-39568, 2000 | 120 | 2000 |
Characterization of recessive RYR1 mutations in core myopathies H Zhou, N Yamaguchi, L Xu, Y Wang, C Sewry, H Jungbluth, F Zorzato, ... Human molecular genetics 15 (18), 2791-2803, 2006 | 118 | 2006 |