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Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors Ruiz, Alexis; Benucci, Sofia; Duthaler, Urs; Bachmann, Christoph; Franchini, Martina; Noreen, Faiza; Pietrangelo, Laura; Protasi, Feliciano; Treves, Susan; Zorzato, Francesco dettagli >> Contributo in rivista (Pubblicazione in Rivista)	ELIFE Vol. 11, No. 1, pp: e73718-1-e73718-29, Anno: 2022

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies Bachmann, Christoph; Franchini, Martina; Van den Bersselaar, Luuk R; Kruijt, Nick; Voermans, Nicol C; Bouman, Karlijn; Kamsteeg, Erik-Jan; Knop, Karl Christian; Ruggiero, Lucia; Santoro, Lucio; Nevo, Yoram; Wilmshurst, Jo; Vissing, John; Sinnreich, Michael; Zorzato, Daniele; Muntoni, Francesco; Jungbluth, Heinz; Zorzato, Francesco; Treves, Susan dettagli >> Contributo in rivista (Pubblicazione in Rivista)	BRAIN COMMUNICATIONS Vol. 4, No. 5, pp: fcac224-1-fcac224-16, Anno: 2022

Functional Characterization of Endogenously Expressed Human RYR1 Variants Treves, Susan; Girard, Thierry; Zorzato, Francesco dettagli >> Contributo in rivista (Pubblicazione in Rivista)	JOURNAL OF VISUALIZED EXPERIMENTS Vol. 2021, No. 172, pp: e62196-1-e62196-1, Anno: 2021

Rapid subcellular calcium responses and dynamics by calcium sensor G-CatchER Reddish, Florence N; Miller, Cassandra L; Deng, Xiaonan; Dong, Bin; Patel, Atit A; Ghane, Mohammad A; Mosca, Barbara; Mcbean, Cheyenne; Wu, Shengnan; Solntsev, Kyril M; Zhuo, You; Gadda, Giovanni; Fang, Ning; Cox, Daniel N; Mabb, Angela M; Treves, Susan; Zorzato, Francesco; Yang, Jenny J dettagli >> Contributo in rivista (Pubblicazione in Rivista)	ISCIENCE Vol. 24, No. 3, pp: 102129-1-102129-43, Anno: 2021

Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations Eckhardt, Jan; Bachmann, Christoph; Benucci, Sofia; Elbaz, Moran; Ruiz, Alexis; Zorzato, Francesco; Treves, Susan dettagli >> Contributo in rivista (Pubblicazione in Rivista)	HUMAN MOLECULAR GENETICS Vol. 29, No. 8, pp: 1330-1339, Anno: 2020

Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice Elbaz, Moran; Ruiz, Alexis; Nicolay, Sven; Tupini, Chiara; Bachmann, Christoph; Eckhardt, Jan; Benucci, Sofia; Pelczar, Pawel; Treves, Susan; Zorzato, Francesco dettagli >> Contributo in rivista (Pubblicazione in Rivista)	THE JOURNAL OF BIOLOGICAL CHEMISTRY Vol. 295, No. 30, pp: 10331-10339, Anno: 2020

Extraocular muscle function is impaired in ryr3(-/-) mice Eckhardt, Jan; Bachmann, Christoph; Sekulic-Jablanovic, Marijana; Enzmann, Volker; Park, Ki Ho; Ma, Jianjie; Takeshima, Hiroshi; Zorzato, Francesco; Treves, Susan dettagli >> Contributo in rivista (Pubblicazione in Rivista)	JOURNAL OF GENERAL PHYSIOLOGY Vol. 151, No. 7, pp: 929-943, Anno: 2019

STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice Silva-Rojas, Roberto; Treves, Susan; Jacobs, Hugues; Kessler, Pascal; Messaddeq, Nadia; Laporte, Jocelyn; Böhm, Johann dettagli >> Contributo in rivista (Pubblicazione in Rivista)	HUMAN MOLECULAR GENETICS ONLINE Vol. 28, No. 10, pp: 1579-1593, Anno: 2019

Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength Elbaz, M.; Ruiz, A.; Bachmann, C.; Eckhardt, J.; Pelczar, P.; Venturi, E.; Lindsay, C.; Wilson, A. D.; Alhussni, A.; Humberstone, T.; Pietrangelo, L.; Boncompagni, S.; Sitsapesan, R.; Treves, S.; Zorzato, F. dettagli >> Contributo in rivista (Pubblicazione in Rivista)	HUMAN MOLECULAR GENETICS Vol. 28, No. 18, pp: 2987-2999, Anno: 2019

Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies Bachmann, C.; Noreen, F.; Voermans, N. C.; Schar, P. L.; Vissing, J.; Fock, J. M.; Bulk, S.; Kusters, B.; Moore, S. A.; Beggs, A. H.; Mathews, K. D.; Meyer, M.; Genetti, C. A.; Meola, G.; Cardani, R.; Mathews, E.; Jungbluth, H.; Muntoni, F.; Zorzato, F.; Treves, S. dettagli >> Contributo in rivista (Pubblicazione in Rivista)	HUMAN MUTATION Vol. 40, No. 7, pp: 962-974, Anno: 2019

Quantitative reduction of RyR1 protein caused by a single-Allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres Elbaz, Moran; Ruiz, Alexis; Eckhardt, Jan; Pelczar, Pawel; Muntoni, Francesco; Boncompagni, Simona; Treves, Susan; Zorzato, Francesco dettagli >> Contributo in rivista (Pubblicazione in Rivista)	HUMAN MOLECULAR GENETICS ONLINE Vol. 28, No. 11, pp: 1872-1884, Anno: 2019

Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance Ruiz, A; Dror, E; Handschin, C; Furrer, R; Perez-Schindler, J; Bachmann, C; Treves, S; Zorzato, F. dettagli >> Contributo in rivista (Pubblicazione in Rivista)	SCIENTIFIC REPORTS Vol. 8, No. 1, pp: 636-1-636-14, Anno: 2018

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility Zaharieva, Irina T.; Sarkozy, Anna; Munot, Pinki; Manzur, Adnan; Ginao'Grady, ; Rendu, John; Malfatti, Eduardo; Amthor, Helge; Servais, Laurent; Andoni Urtizberea, J.; Abath Neto, Osorio; Zanoteli, Edmar; Donkervoort, Sandra; Taylor, Juliet; Dixon, Joanne; Poke, Gemma; Reghan Foley, A.; Holmes, Chris; Williams, Glyn; Holder, Muriel; Yum, Sabrina; Medne, Livija; Quijano-Roy, Susana; Romero, Norma B.; Fauré, Julien; Feng, Lucy; Bastaki, Laila; Davis, Mark R.; Phadke, Rahul; Sewry, Caroline A.; Bönnemann, Carsten G.; Jungbluth, Heinz; Bachmann, Christoph; Treves, Susan Nella; Francescomuntoni, dettagli >> Contributo in rivista (Pubblicazione in Rivista)	HUMAN MUTATION Vol. 39, No. 12, pp: 1980-1994, Anno: 2018

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction Jungbluth, H; Treves, S; Zorzato, F; Sarkozy, A; Ochala, ; Sewry, C; Phadke, R; Gautel, M; Muntoni, F dettagli >> Contributo in rivista (Pubblicazione in Rivista)	NATURE REVIEWS. NEUROLOGY Vol. 14, No. 3, pp: 151-167, Anno: 2018

Atypical periodic paralysis and myalgia. A novel RYR1 phenotype Matthews, E.; Neuwirth, C.; Jaffer, F.; S: Scalco, R.; Fialho, D.; Parton, M.; Raja Rayan, D.; Suetterlin, K.; Sud, R.; Spiegel, R.; Mein, R.; Houlden, H.; Schaefer, A.; Healy, E.; Palace, J.; Quinlivan, R.; Treves, S.; Holton, J. L.; Jungbluth, H.; Hanna, and M. G. dettagli >> Contributo in rivista (Pubblicazione in Rivista)	NEUROLOGY Vol. 90, No. 5, pp: 412-418, Anno: 2018

Cellular, Biochemical and Molecular Changes in Muscles from Patients with X-Linked Myotubular Myopathy due to MTM1 Mutations Treves, S; Bachmann, C; Jungbluth, H; Muntoni, F; Manzur, Ay; Zorzato, F Atto di Convegno (Proceedings)	CELL PRESS, 61st Annual Meeting of the Biophysical-Society Vol. 112, No. 3, pp: 161A-161A, Anno: 2017

Ca2+ handling abnormalities in early-onset muscle diseases: Novel concepts and perspectives Treves, S.; Jungbluth, H.; Voermans, N.; Muntoni, F.; Zorzato, F. dettagli >> Contributo in rivista (Pubblicazione in Rivista)	SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY Vol. 64, No. April 2017, pp: 201-212, Anno: 2017

Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations Zorzato, Francesco; Treves, Susan Nella; Bachmann, Christoph; Jungbluth, Heinz; Muntoni, Francesco; Manzur, Adnan Y. dettagli >> Contributo in rivista (Pubblicazione in Rivista)	HUMAN MOLECULAR GENETICS Vol. 26, No. 2, pp: 320-332, Anno: 2017

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Zorzato, Francesco; Treves, Susan Nella; Schartner, V.; Romero, N. B.; Donkervoort, S.; Munot, P.; Pierson, T. M.; Dabaj, I.; Malfatti, E.; Zaharieva, I. T.; Neto, O. A.; Brochier, G.; Lornage, X.; Eymard, B.; Taratuto, A. L.; Böhm, J.; Gonorazky, H.; Ramos-Platt, L.; Feng, L.; Phadke, R.; Bharucha-Goebel, D. X.; Sumner, C. J.; Bui, M. T.; Lacene, E.; Beuvin, M.; Labasse, C.; Dondaine, N.; Schneider, R.; Thompson, J.; Boland, A.; Deleuze, J. -F.; Matthews, E.; Pakleza, A. N.; Sewry, C. A.; Biancalana, V.; Quijano-Roy, S.; Muntoni, Francesco; Fardeau, M.; Bönnemann, C. G.; Laporte, J. dettagli >> Contributo in rivista (Pubblicazione in Rivista)	ACTA NEUROPATHOLOGICA Vol. 133, No. 4, pp: 517-533, Anno: 2017

Role of the JP45-Calsequestrin Complex on Calcium Entry in Slow Twitch Skeletal Muscles Mosca, Barbara; Eckhardt, J2; Bergamelli, Leda; Treves, Susan Nella; Bongianino, R4; De Negri, M4; Priori, Sg5; Protasi, F6; Zorzato, Francesco dettagli >> Contributo in rivista (Pubblicazione in Rivista)	JOURNAL OF BIOLOGICAL CHEMISTRY Vol. 291, No. 1, pp: 14555-14565, Anno: 2016