Eckhardt J, Bachmann C, Benucci S, Elbaz M, Ruiz A, Zorzato F and Treves S (2020). Molecular basis of impaired extraocular muscle function in a mouse model of congenital myopathy due to compound heterozygous Ryr1 mutations. Hum Mol. Genet. 29,1330–1339.

Elbaz M, Ruiz A, Nicolay S, Tupini C, Bachmann C, Eckhardt J, Benucci S, Pelczar P, Treves S and Zorzato F (2020). Bi-allelic expression of the RyR1 p.A4329D mutation decreases muscle strength in slow-twitch muscles in mice. J. Biol. Chem. 295, 10331–10339.

Elbaz M, Ruiz A, Bachmann C, Eckhardt J, Pelczar P, Venturi E, Lindsay C, Wilson AD, Alhussni A, Humberstone T,  et al. (2019). Quantitative RyR1 reduction and loss of calcium sensitivity of RyR1Q1970fsX16+A4329D cause cores and loss of muscle strength. Hum. Mol. Genet. 28, 2987–2999.

Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, et al. (2019). Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Hum. Mutat. 40, 962-974

Ruiz A, Dror E., Handschin C, Furrer R, Perez-Schindler J, Bachmann C, Treves S and Zorzato F (2018). Over-expression of a retinol dehydrogenase (SRP35/DHRS7C) in skeletal muscle activates mTORC2, enhances glucose metabolism and muscle performance. Sci. Rep. 8, 636 doi: 10.1038/s41598-017-18844-3.