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Journal of Neuromuscular Diseases|November 20, 2020
Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case ReportInuka Kishara Gooneratne, Shanika Nandasiri, Susan Maxwell, et al.Annals of the New York Academy of Sciences|January 3, 2013
The search for new antigenic targets in myasthenia gravisJudith Cossins, Katsiaryna Belaya, Katarzyna Zoltowska, et al.Journal of Neurology, Neurosurgery, and Psychiatry|March 14, 2020
Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRsHakan Cetin, Richard Webster, Wei Wei Liu, et al.Annals of the New York Academy of Sciences|June 24, 2008
Congenital myasthenic syndromes and the formation of the neuromuscular junctionDavid Beeson, Richard Webster, Judith Cossins, et al.International Immunology|July 29, 2003
Spontaneous production of anti-IFN-alpha and anti-IL-12 autoantibodies by thymoma cells from myasthenia gravis patients suggests autoimmunization in the tumorHiroyuki Shiono, Yat Lei Wong, Ian Matthews, et al.Science (New York, N.Y.)|September 20, 2014
Neuromuscular disease. DOK7 gene therapy benefits mouse models of diseases characterized by defects in the neuromuscular junctionSumimasa Arimura, Takashi Okada, Tohru Tezuka, et al.Brain Communications|November 20, 2020
Congenital myasthenic syndrome due to a <i>TOR1AIP1</i> mutation: a new disease pathway for impaired synaptic transmissionJudith Cossins, Richard Webster, Susan Maxwell, et al.American Journal of Human Genetics|January 9, 2008
Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patientsJulie Vogt, Benjamin J Harrison, Hayley Spearman, et al.Human Mutation|November 26, 2019
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structurePedro M Rodríguez Cruz, Judith Cossins, Jonathan Cheung, et al.Orphanet Journal of Rare Diseases|December 21, 2017
Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndromeJianying Xi, Chong Yan, Wei-Wei Liu, et al.Pageof 14