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Brain : a Journal of Neurology|April 25, 2007
Clinical features of the DOK7 neuromuscular junction synaptopathyJacqueline Palace, Daniel Lashley, John Newsom-Davis, et al.Neuromuscular Disorders : NMD|January 25, 2021
A rare mutation in the COLQ gene causing congenital myasthenic syndrome with remarkable improvement to fluoxetine: A case reportAnomali Vidanagamage, Inuka Kishara Gooneratne, Shanika Nandasiri, et al.Human Molecular Genetics|November 6, 2002
Mutations in congenital myasthenic syndromes reveal an epsilon subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChRJohn Ealing, Richard Webster, Sharon Brownlow, et al.The Journal of Biological Chemistry|January 1, 2008
Mutations causing DOK7 congenital myasthenia ablate functional motifs in Dok-7Johko Hamuro, Osamu Higuchi, Kumiko Okada, et al.Practical Neurology|July 22, 2025
Myasthenic syndromes: mistaking genetic for acquiredLeighann Henehan, Elena Rossini, Isobel Sarah Platt, et al.Brain : a Journal of Neurology|June 3, 2008
IgG1 antibodies to acetylcholine receptors in 'seronegative' myasthenia gravisMaria Isabel Leite, Saiju Jacob, Stuart Viegas, et al.Brain : a Journal of Neurology|September 2, 2006
Diverse molecular mechanisms involved in AChR deficiency due to rapsyn mutationsJudy Cossins, Georgina Burke, Susan Maxwell, et al.Neurology(R) Neuroimmunology & Neuroinflammation|August 15, 2023
IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit PhosphorylationMichelangelo Cao, Wei-Wei Liu, Susan Maxwell, et al.Journal of the Neurological Sciences|December 7, 2010
Non-radioactive serological diagnosis of myasthenia gravis and clinical features of patients from Tianjin, ChinaLi Yang, Susan Maxwell, M Isabel Leite, et al.International Journal of Pediatric Otorhinolaryngology|June 18, 2010
Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital myasthenic syndromeChris G Jephson, Nikki A Mills, Matthew C Pitt, et al.Pageof 14