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Journal of Neuromuscular Diseases|February 13, 2016
Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular TransmissionAmina Chaouch, Vito Porcelli, Daniel Cox, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 14, 2018
Mobility shift of beta-dystroglycan as a marker of <i>GMPPB</i> gene-related muscular dystrophyAnna Sarkozy, Silvia Torelli, Rachael Mein, et al.Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.Brain : a Journal of Neurology|May 14, 2019
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutationsPedro M Rodríguez Cruz, Judith Cossins, Eduardo de Paula Estephan, 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.Cell|November 3, 2018
Structures of DPAGT1 Explain Glycosylation Disease Mechanisms and Advance TB Antibiotic DesignYin Yao Dong, Hua Wang, Ashley C W Pike, et al.Genome Medicine|November 10, 2023
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseasesAlistair T Pagnamenta, Carme Camps, Edoardo Giacopuzzi, et al.Nature Genetics|May 19, 2015
Factors influencing success of clinical genome sequencing across a broad spectrum of disordersJenny C Taylor, Hilary C Martin, Stefano Lise, et al.Pageof 14