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Journal of Visualized Experiments : Jove|June 28, 2021
Functional Characterization of Endogenously Expressed Human RYR1 VariantsSusan Treves, Thierry Girard, Francesco ZorzatoNeuromuscular Disorders : NMD|November 23, 2023
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individualsYuko Noda, Hirotsugu Miyoshi, Sofia Benucci, et al.Human Mutation|August 29, 2012
JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptorToshimichi Yasuda, Osvaldo Delbono, Zhong-Min Wang, et al.The Journal of Biological Chemistry|August 10, 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 diseaseSylvie Ducreux, Francesco Zorzato, Clemens Müller, et al.Current Opinion in Pharmacology|March 4, 2008
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigmSusan Treves, Heinz Jungbluth, Francesco Muntoni, et al.The Journal of Biological Chemistry|March 30, 2010
Frequent calcium oscillations lead to NFAT activation in human immature dendritic cellsMirko Vukcevic, Francesco Zorzato, Giulio Spagnoli, et al.Human Molecular Genetics|February 5, 2003
Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptorFrancesco Zorzato, Naohiro Yamaguchi, Le Xu, et al.BMC Molecular Biology|December 18, 2008
Upstream stimulatory factors are involved in the P1 promoter directed transcription of the A beta H-J-J locusAlessia Finotti, Susan Treves, Francesco Zorzato, et al.Trends in Molecular Medicine|October 17, 2012
Mapping domains and mutations on the skeletal muscle ryanodine receptor channelJean H Hwang, Francesco Zorzato, Nigel F Clarke, et al.Seminars in Cell & Developmental Biology|July 19, 2016
Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectivesSusan Treves, Heinz Jungbluth, Nicol Voermans, et al.Pageof 17