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Journal of Neurology|January 19, 2013
A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) geneSissel Løseth, Nicol C Voermans, Torberg Torbergsen, et al.Acta Neuropathologica|January 15, 2021
Making sense of missense variants in TTN-related congenital myopathiesMartin Rees, Roksana Nikoopour, Atsushi Fukuzawa, et al.Brain : a Journal of Neurology|September 3, 2020
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathyJorge Alonso-Pérez, Lidia González-Quereda, Luca Bello, et al.Pageof 5