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Muscle & Nerve|November 18, 2025
Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United KingdomElena Rossini, Leighann Henehan, Yin Yao Dong, et al.Neuromuscular Disorders : NMD|April 24, 2017
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndromeSushan Luo, Shuang Cai, Susan Maxwell, et al.Science (New York, N.Y.)|July 3, 2010
Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in originRebecca H Clark, James S McTaggart, Richard Webster, et al.Proceedings of the National Academy of Sciences of the United States of America|October 2, 2019
Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutationHakan Cetin, Max Epstein, Wei W Liu, et al.Cancer Research|January 7, 2006
Rhabdomyosarcoma lysis by T cells expressing a human autoantibody-based chimeric receptor targeting the fetal acetylcholine receptorStefan Gattenlöhner, Alexander Marx, Birgit Markfort, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 1, 2013
Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1Sarah Finlayson, Jacqueline Palace, Katsiaryna Belaya, et al.Neurology(R) Neuroimmunology & Neuroinflammation|December 14, 2019
SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibodySaif Huda, Michelangelo Cao, Anna De Rosa, et al.Neuromuscular Disorders : NMD|December 11, 2012
Salbutamol benefits children with congenital myasthenic syndrome due to DOK7 mutationsGeorgina Burke, Andrew Hiscock, Andrea Klein, et al.Cell Reports|April 19, 2025
Structures of the human adult muscle-type nicotinic receptor in resting and desensitized statesAnna Li, Ashley C W Pike, Richard Webster, et al.Annals of the New York Academy of Sciences|November 1, 2003
Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromesDavid Beeson, Richard Webster, John Ealing, et al.Pageof 14