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Treves, Susan and Jungbluth, Heinz and Voermans, Nicol and Muntoni, Francesco and Zorzato, Francesco. (2017) Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives. Seminars in Cell and Developmental Biology, 64. pp. 201-212.

Schartner, Vanessa and Romero, Norma B. and Donkervoort, Sandra and Treves, Susan and Munot, Pinki and Pierson, Tyler Mark and Dabaj, Ivana and Malfatti, Edoardo and Zaharieva, Irina T. and Zorzato, Francesco and Abath Neto, Osorio and Brochier, Guy and Lornage, Xavière and Eymard, Bruno and Taratuto, Ana Lia and Bohm, Johann and Gonorazky, Hernan and Ramos-Platt, Leigh and Feng, Lucy and Phadke, Rahul and Bharucha-Goebel, Diana X. and Sumner, Charlotte Jane and Bui, Mai Thao and Lacene, Emmanuelle and Beuvin, Maud and Labasse, Clémence and Dondaine, Nicolas and Schneider, Raphael and Thompson, Julie and Boland, A. and Deleuze, Jean-François and Matthews, Emma and Pakleza, Aleksandra Nadaj and Sewry, Caroline A. and Biancalana, Valérie and Quijano-Roy, Susana and Muntoni, Francesco and Fardeau, Michel and Bönnemann, Carsten G. and Laporte, Jocelyn. (2017) Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy. Acta neuropathologica, 133 (4). pp. 517-533.

Jungbluth, Heinz and Ochala, Julien and Treves, Susan and Gautel, Mathias. (2017) Current and future therapeutic approaches to the congenital myopathies. Seminars in Cell and Developmental Biology, 64. pp. 191-200.

Bachmann, Christoph and Jungbluth, Heinz and Muntoni, Francesco and Manzur, Adnan Y. and Zorzato, Francesco and Treves, Susan. (2017) Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations. Human molecular genetics, 26 (2). pp. 320-332.

Johansen, Stephan and Treves, Susan and Müller, Clemens R. and Mögele, Susanne and Schneiderbanger, Daniel and Roewer, Norbert and Schuster, Frank. (2016) Functional characterization of the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. Neuromuscular Disorders, 26 (1). pp. 21-25.

Wang, Min and Keogh, Adrian and Treves, Susan and Idle, Jeffrey R. and Beyoğlu, Diren. (2016) The metabolomic profile of gamma-irradiated human hepatoma and muscle cells reveals metabolic changes consistent with the Warburg effect. PeerJ, 4. e1624.

Sekulic-Jablanovic, Marijana and Ullrich, Nina D. and Goldblum, David and Palmowski-Wolfe, Anja and Zorzato, Francesco and Treves, Susan. (2016) Functional characterization of orbicularis oculi and extraocular muscles. Journal of General Physiology, 147 (5). pp. 395-406.

Mosca, Barbara and Eckhardt, Jan and Bergamelli, Leda and Treves, Susan and Bongianino, Rossana and De Negri, Marco and Priori, Silvia G. and Protasi, Feliciano and Zorzato, Francesco. (2016) Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles. Journal of Biological Chemistry, 291 (28). pp. 14555-14565.

Lopez, Rubén J. and Byrne, Susan and Vukcevic, Mirko and Sekulic-Jablanovic, Marijana and Xu, Lifen and Brink, Marijke and Alamelu, Jay and Voermans, Nicol and Snoeck, Marc and Clement, Emma and Muntoni, Francesco and Zhou, Haiyan and Radunovic, Aleksandar and Mohammed, Shehla and Wraige, Elizabeth and Zorzato, Francesco and Treves, Susan and Jungbluth, Heinz. (2016) An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities. Science Signaling, 9 (435). ra68.

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.

Lopez, Rubén J. and Mosca, Barbara and Treves, Susan and Maj, Marcin and Bergamelli, Leda and Calderon, Juan C. and Bentzinger, C. Florian and Romanino, Klaas and Hall, Michael N. and Rüegg, Markus A. and Delbono, Osvaldo and Caputo, Carlo and Zorzato, Francesco. (2015) Raptor ablation in skeletal muscle decreases Cav1.1 expression and affects the function of the excitation-contraction coupling supramolecular complex. Biochemical Journal, 466 (1). pp. 123-135.

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.

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.

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.

Rokach, Ori and Sekulic-Jablanovic, Marijana and Voermans, Nicol and Wilmshurst, Jo and Pillay, Komala and Heytens, Luc and Zhou, Haiyan and Muntoni, Francesco and Gautel, Mathias and Nevo, Yoram and Mitrani-Rosenbaum, Stella and Attali, Ruben and Finotti, Alessia and Gambari, Roberto and Mosca, Barbara and Jungbluth, Heinz and Zorzato, Francesco and Treves, Susan. (2015) Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Human Molecular Genetics, 24 (16). pp. 4636-4647.

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.

Eken, Ceylan and Sadallah, Salima and Martin, Perrine J. and Treves, Susan and Schifferli, Jurg A.. (2013) Ectosomes of polymorphonuclear neutrophils activate multiple signaling pathways in macrophages. Immunobiology, 218 (3). pp. 382-392.

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.

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.

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.

Mosca, Barbara and Delbono, Osvaldo and Laura Messi, Maria and Bergamelli, Leda and Wang, Zhong-Min and Vukcevic, Mirko and Lopez, Ruben and Treves, Susan and Nishi, Miyuki and Takeshima, Hiroshi and Paolini, Cecilia and Martini, Marta and Rispoli, Giorgio and Protasi, Feliciano and Zorzato, Francesco. (2013) Enhanced dihydropyridine receptor calcium channel activity restores muscle strength in JP45/CASQ1 double knockout mice. Nature Communications, 4. p. 1541.

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.

Summermatter, Serge and Thurnheer, Raphael and Santos, Gesa and Mosca, Barbara and Baum, Oliver and Treves, Susan and Hoppeler, Hans and Zorzato, Francesco and Handschin, Christoph. (2012) Remodeling of calcium handling in skeletal muscle through PGC-1α: impact on force, fatigability, and fiber type. American Journal of Physiology, 302 (1). C88-99.

Treves, Susan and Thurnheer, Raphael and Mosca, Barbara and Vukcevic, Mirko and Bergamelli, Leda and Voltan, Rebecca and Oberhauser, Vitus and Ronjat, Michel and Csernoch, Laszlo and Szentesi, Peter and Zorzato, Francesco. (2012) SRP-35, a newly identified protein of the skeletal muscle sarcoplasmic reticulum, is a retinol dehydrogenase. Biochemical Journal, 441 (2). pp. 731-741.

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.

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.

Delbono, Osvaldo and Messi, Maria Laura and Wang, Zhong-Min and Treves, Susan and Mosca, Barbara and Bergamelli, Leda and Nishi, Miyuki and Takeshima, Hiroshi and Shi, Hang and Xue, Bingzhong and Zorzato, Francesco. (2012) Endogenously determined restriction of food intake overcomes excitation–contraction uncoupling in JP45KO mice with aging. Experimental Gerontology, 47 (4). pp. 304-316.

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.

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, Susan and Vukcevic, Mirko and Griesser, Johanna and Franzini-Armstrong, Clara and Zhu, Michael X. and Zorzato, Francesco. (2010) Agonist-activated Ca2+ influx occurs at stable plasma membrane and endoplasmic reticulum junctions. Journal of Cell Science, 123. pp. 4170-4181.

Vukcevic, Mirko and Broman, Marcus and Islander, Gunilla and Bodelsson, Mikael and Ranklev-Twetman, Eva and Müller-Reible, Clemens and Treves, Susan. (2010) Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease. Anesthesia and Analgesia, 111 (1). pp. 185-190.

Levano, Soledad and Vukcevic, Mirko and Singer, Martine and Matter, Anja and Treves, Susan and Urwyler, Albert and Girard, Thierry. (2009) Increasing the number of diagnostic mutations in malignant hyperthermia. Human Mutation, 30 (4). pp. 590-598.

Treves, Susan and Vukcevic, Mirko and Maj, Marcin and Thurnheer, Raphael and Mosca, Barbara and Zorzato, Francesco. (2009) Minor sarcoplasmic reticulum membrane components that modulate excitation–contraction coupling in striated muscles. Journal of Physiology, 587 (13). pp. 3071-3079.

Ghassemi, Farshid and Vukcevic, Mirko and Xu, Le and Zhou, Haiyan and Meissner, Gerhard and Muntoni, Francesco and Jungbluth, Heinz and Zorzato, Francesco and Treves, Susan. (2009) A recessive ryanodine receptor 1 mutation in a CCD patient increases channel activity. Cell Calcium, 45 (2). pp. 192-197.

Finotti, Alessia and Treves, Susan and Zorzato, Francesco and Gambari, Roberto and Feriotto, Giordana. (2008) Upstream stimulatory factors are involved in the P1 promoter directed transcription of the A beta H-J-J locus. BMC molecular biology, 9. p. 110.

Treves, Susan and Jungbluth, Heinz and Muntoni, Francesco and Zorzato, Francesco. (2008) Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. Current Opinion in Pharmacology, 8 (3). pp. 319-326.

Bleunven, Christophe and Treves, Susan and Jinyu, Xia and Leo, Elisa and Ronjat, Michel and De Waard, Michel and Kern, Georg and Flucher, Bernhard E. and Zorzato, Francesco. (2008) SRP-27 is a novel component of the supramolecular signalling complex involved in skeletal muscle excitation-contraction coupling. Biochemical Journal, 411 (2). pp. 343-349.

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.

Divet, Alexandra and Paesante, Silvia and Grasso, Cristiano and Cavagna, Dario and Tiveron, Cecilia and Paolini, Cecilia and Protasi, Feliciano and Huchet-Cadiou, Corinne and Treves, Susan and Zorzato, Francesco. (2007) Increased Ca2+ storage capacity of the skeletal muscle sarcoplasmic reticulum of transgenic mice over-expressing membrane bound calcium binding protein junctate. Journal of Cellular Physiology, 213 (2). pp. 464-474.

Christen, Verena and Treves, Susan and Duong, Francois H. T. and Heim, Markus H.. (2007) Activation of endoplasmic reticulum stress response by hepatitis viruses up-regulates protein phosphatase 2A. Hepatology, 46 (2). pp. 558-565.

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.

Zhou, Haiyan and Jungbluth, Heinz and Sewry, Caroline A. and Feng, Lucy and Bertini, Enrico and Bushby, Kate and Straub, Volker and Roper, Helen and Rose, Michael R. and Brockington, Martin and Kinali, Maria and Manzur, Adnan and Robb, Stephanie and Appleton, Richard and Messina, Sonia and D'Amico, Adele and Quinlivan, Ros and Swash, Michael and Müller, Clemens R. and Brown, Susan and Treves, Susan and Muntoni, Francesco. (2007) Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain, 130 (8). pp. 2024-2036.

Delbono, Osvaldo and Xia, Jinyu and Treves, Susan and Wang, Zhong-Min and Jimenez-Moreno, Ramon and Payne, Anthony M. and Messi, María Laura and Briguet, Alexandre and Schaerer, Florian and Nishi, Miyuki and Takeshima, Hiroshi and Zorzato, Francesco. (2007) Loss of skeletal muscle strength by ablation of the sarcoplasmic reticulum protein JP45. Proceedings of the National Academy of Sciences , 104 (50). pp. 20108-20113.

Feriotto, Giordana and Finotti, Alessia and Breveglieri, Giulia and Treves, Susan and Zorzato, Francesco and Gambari, Roberto. (2007) Transcriptional activity and Sp 1/3 transcription factor binding to the P1 promoter sequences of the human AbetaH-J-J locus. FEBS Journal, 274 (17). pp. 4476-4490.

Jungbluth, Heinz and Zhou, Haiyan and Sewry, Caroline A. and Robb, Stephanie and Treves, Susan and Bitoun, Marc and Guicheney, Pascale and Buj-Bello, Anna and Bönnemann, Carsten and Muntoni, Francesco. (2007) Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscular Disorders , 17 (4). pp. 338-345.

Zorzato, Francesco and Jungbluth, Heinz and Zhou, Haiyan and Muntoni, Francesco and Treves, Susan. (2007) Functional effects of mutations identified in patients with multiminicore disease. IUBMB Life, 59 (1). pp. 14-20.

Zhang, Miao and Yamazaki, Tetsuo and Yazawa, Masayuki and Treves, Susan and Nishi, Miyuki and Murai, Machiko and Shibata, Eisuke and Zorzato, Francesco and Takeshima, Hiroshi. (2007) Calumin, a novel Ca2+-binding transmembrane protein on the endoplasmic reticulum. Cell Calcium, 42 (1). pp. 83-90.

Feriotto, Giordana and Finotti, Alessia and Breveglieri, Giulia and Treves, Susan and Zorzato, Francesco and Gambari, Roberto. (2006) Multiple levels of control of the expression of the human A beta H-J-J locus encoding aspartyl-beta-hydroxylase, junctin, and junctate. Annals of the New York Academy of Sciences, 1091. pp. 184-190.

Anderson, Ayuk A. and Altafaj, Xavier and Zheng, Zhenlin and Wang, Zhong-Min and Delbono, Osvaldo and Ronjat, Michel and Treves, Susan and Zorzato, Francesco. (2006) The junctional SR protein JP-45 affects the functional expression of the voltage-dependent Ca2+ channel Cav1.1. Journal of Cell Science, 119 (10). pp. 2145-2155.

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.

Zhou, Haiyan and Yamaguchi, Naohiro and Xu, Le and Wang, Ying and Sewry, Caroline and Jungbluth, Heinz and Zorzato, Francesco and Bertini, Enrico and Muntoni, Francesco and Meissner, Gerhard and Treves, Susan. (2006) Characterization of recessive RYR1 mutations in core myopathies. Human Molecular Genetics, 15 (18). pp. 2791-2803.

Stamboulian, Séverine and Moutin, Marie-Jo and Treves, Susan and Pochon, Nathalie and Grunwald, Didier and Zorzato, Francesco and De Waard, Michel and Ronjat, Michel and Arnoult, Christophe. (2005) Junctate, an inositol 1,4,5-triphosphate receptor associated protein, is present in rodent sperm and binds TRPC2 and TRPC5 but not TRPC1 channels. Developmental Biology, 286 (1). pp. 326-337.

Feriotto, Giordana and Finotti, Alessia and Volpe, Pompeo and Treves, Susan and Ferrari, Stefano and Angelelli, Cecilia and Zorzato, Francesco and Gambari, Roberto. (2005) Myocyte enhancer factor 2 activates promoter sequences of the human AbetaH-J-J locus, encoding aspartyl-beta-hydroxylase, junctin, and junctate. Molecular and Cellular Biology, 25 (8). pp. 3261-3275.

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.

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.

Girard, Thierry and Treves, Susan and Voronkov, Evgueni and Siegemund, Martin and Urwyler, Albert. (2004) Molecular genetic testing for malignant hyperthermia susceptibility. Anesthesiology, 100 (5). pp. 1076-1080.

Jungbluth, Heinz and Beggs, Alan and Bönnemann, Carsten and Bushby, Kate and Ceuterick-de Groote, Chantal and Estournet-Mathiaud, Brigitte and Goemans, Nathalie and Guicheney, Pascale and Lescure, Alain and Lunardi, Joël and Muntoni, Francesco and Quinlivan, Ros and Sewry, Caroline and Straub, Volker and Treves, Susan and Ferreiro, Ana. (2004) 111th ENMC International Workshop on Multi-minicore Disease : 2nd International MmD Workshop, 9-11 November 2002, Naarden, The Netherlands : workshop report. Neuromuscular Disorders, 14 (11). pp. 754-766.

Skeie, Geir Olve and Mygland, Ase and Treves, Susan and Gilhus, Nils Erik and Aarli, Johan Arild and Zorzato, Francesco. (2003) Ryanodine receptor antibodies in myasthenia gravis : epitope mapping and effect on calcium release in vitro. Muscle and Nerve , 27 (1). pp. 81-89.

Anderson, Ayuk A. and Treves, Susan and Biral, Donatella and Betto, Romeo and Sandonà, Doriana and Ronjat, Michel and Zorzato, Francesco. (2003) The novel skeletal muscle sarcoplasmic reticulum JP-45 protein : molecular cloning, tissue distribution, developmental expression, and interaction with alpha 1.1 subunit of the voltage-gated calcium channel. Journal of Biological Chemistry, 278 (41). pp. 39987-39992.

Zorzato, Francesco and Yamaguchi, Naohiro and Xu, Le and Meissner, Gerhard and Müller, Clemens R. and Pouliquin, Pierre and Muntoni, Francesco and Sewry, Caroline and Girard, Thierry and Treves, Susan. (2003) Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor. Human Molecular Genetics, 12 (4). pp. 379-388.