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Slow-Channel Congenital Myasthenic Syndrome due to a Novel Mutation in the Acetylcholine Receptor Alpha Subunit in a South Asian: A Case Report 南亚人由于乙酰胆碱受体 α 亚基的新突变而导致的慢通道先天性肌无力综合征: 一例病例报告 Gooneratne, Inuka Kishara; Nandasiri, Shanika; Maxwell, Susan; Webster, Richard; Cossins, Judith; Beeson, David; Gunaratne, Kamal; Herath, Lalinka; Senanayake, Sunethra; Chang, Thashi 分享 收藏
Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs Cetin, Hakan; Webster, Richard; Liu, Wei Wei; Nagaishi, Akiko; Koneczny, Inga; Zimprich, Fritz; Maxwell, Susan; Cossins, Judith; Beeson, David; Vincent, Angela 分享 收藏
SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody Huda, Saif; Cao, Michelangelo; De Rosa, Anna; Woodhall, Mark; Rodriguez Cruz, Pedro M.; Cossins, Judith; Maestri, Michelangelo; Ricciardi, Roberta; Evoli, Amelia; Beeson, David; Vincent, Angela 分享 收藏
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure Cruz, Pedro M. Rodriguez; Cossins, Judith; Cheung, Jonathan; Maxwell, Susan; Jayawant, Sandeep; Herbst, Ruth; Waithe, Dominic; Kornev, Alexandr P.; Palace, Jacqueline; Beeson, David 分享 收藏
Characterization of pathogenic monoclonal autoantibodies derived from muscle-specific kinase myasthenia gravis patients Takata, Kazushiro; Stathopoulos, Panos; Cao, Michelangelo; Mane-Damas, Marina; Fichtner, Miriam L.; Benotti, Erik S.; Jacobson, Leslie; Waters, Patrick; Irani, Sarosh R.; Martinez-Martinez, Pilar; Beeson, David; Losen, Mario; Vincent, Angela; Nowak, Richard J.; O'Connor, Kevin C. 分享 收藏
Serological and experimental studies in different forms of myasthenia gravis Vincent, Angela; Huda, Saif; Cao, Michelangelo; Cetin, Hakan; Koneczny, Inga; Rodriguez-Cruz, Pedro; Jacobson, Leslie; Viegas, Stuart; Jacob, Saiju; Woodhall, Mark; Nagaishi, Akiko; Maniaol, Angelina; Damato, Valentina; Leite, M. Isabel; Cossins, Judith; Webster, Richard; Palace, Jacqueline; Beeson, David 分享 收藏
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Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth Todd, Emily J.; Yau, Kyle S.; Ong, Royston; Slee, Jennie; McGillivray, George; Barnett, Christopher P.; Haliloglu, Goknur; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel F.; Freckmann, Mary-Louise; Romero, Norma B.; Williams, Denise; Sewry, Caroline A.; Colley, Alison; Ryan, Monique M.; Kiraly-Borri, Cathy; Sivadorai, Padma; Allcock, Richard J. N.; Beeson, David; Maxwell, Susan; Davis, Mark R.; Laing, Nigel G.; Ravenscroft, Gianina 分享 收藏
Antibodies to GABAA receptor α1 and γ2 subunits Clinical and serologic characterization Pettingill, Philippa; Kramer, Holger B.; Coebergh, Jan Adriaan; Pettingill, Rosie; Maxwell, Susan; Nibber, Anjan; Malaspina, Andrea; Jacob, Anu; Irani, Sarosh R.; Buckley, Camilla; Beeson, David; Lang, Bethan; Waters, Patrick; Vincent, Angela 分享 收藏
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The search for new antigenic targets in myasthenia gravis Cossins, Judith; Belaya, Katsiaryna; Zoltowska, Katarzyna; Koneczny, Inga; Maxwell, Susan; Jacobson, Leslie; Leite, Maria Isabel; Waters, Patrick; Vincent, Angela; Beeson, David 分享 收藏
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LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin Maselli, Ricardo A.; Fernandez, Jose M.; Arredondo, Juan; Navarro, Carmen; Maian Ngo; Beeson, David; Cagney, Orla; Williams, D. Colette; Wollmann, Robert L.; Yarov-Yarovoy, Vladimir; Ferns, Michael J. 分享 收藏
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Congenital myasthenic syndromes and the formation of the neuromuscular junction 先天性肌无力综合征与神经肌肉接头的形成 Beeson, David; Webster, Richard; Cossins, Judith; Lashley, Daniel; Spearman, Hayley; Maxwell, Susan; Slater, Clarke R.; Newsom-Davis, John; Palace, Jacqueline; Vincent, Angela 分享 收藏
Myasthenia gravis seronegative for acetylcholine receptor antibodies 乙酰胆碱受体抗体血清阴性的重症肌无力 Vincent, Angela; Leite, Maria Iisabel; Farrugia, Maria Elena; Jacob, Saiju; Viegas, Stuart; Shiraishi, Hiro; Beaveniste, Olivier; Morgan, B. Paul; Hilton-Jones, David; Newsom-Davis, John; Beeson, David; Willcox, Nick 分享 收藏
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