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Brain : a Journal of Neurology|September 13, 2021
Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophyJorge Alonso-Pérez, Lidia González-Quereda, Claudio Bruno, et al.Journal of Neurology|October 7, 2011
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutationsVelina Guergueltcheva, Juliane S Müller, Marina Dusl, et al.American Journal of Human Genetics|February 12, 2011
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defectJan Senderek, Juliane S Müller, Marina Dusl, et al.Pageof 7