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Therapeutic strategies for congenital myasthenic syndromes
Lee, Manon, Beeson, David, Palace, Jacqueline
Published in Annals of the New York Academy of Sciences (01.01.2018)
Published in Annals of the New York Academy of Sciences (01.01.2018)
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Journal Article
Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia
Webster, Richard G, Vanhaesebrouck, An E, Maxwell, Susan E, Cossins, Judith A, Liu, Weiwei, Ueta, Ryo, Yamanashi, Yuji, Beeson, David M W
Published in Human molecular genetics (11.08.2020)
Published in Human molecular genetics (11.08.2020)
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Journal Article
The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle
Cetin, Hakan, Beeson, David, Vincent, Angela, Webster, Richard
Published in Frontiers in molecular neuroscience (08.09.2020)
Published in Frontiers in molecular neuroscience (08.09.2020)
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Journal Article
N-methyl-d-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both sexes
Irani, Sarosh R., Bera, Katarzyna, Waters, Patrick, Zuliani, Luigi, Maxwell, Susan, Zandi, Michael S., Friese, Manuel A., Galea, Ian, Kullmann, Dimitri M., Beeson, David, Lang, Bethan, Bien, Christian G., Vincent, Angela
Published in Brain (London, England : 1878) (01.06.2010)
Published in Brain (London, England : 1878) (01.06.2010)
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Journal Article
β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure
Vanhaesebrouck, An E, Webster, Richard, Maxwell, Susan, Rodriguez Cruz, Pedro M, Cossins, Judith, Wickens, James, Liu, Wei-wei, Cetin, Hakan, Cheung, Jonathan, Ramjattan, Hayley, Palace, Jacqueline, Beeson, David
Published in Brain (London, England : 1878) (01.12.2019)
Published in Brain (London, England : 1878) (01.12.2019)
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Journal Article
IgG1 antibodies to acetylcholine receptors in ‘seronegative’ myasthenia gravis
Leite, Maria Isabel, Jacob, Saiju, Viegas, Stuart, Cossins, Judy, Clover, Linda, Morgan, B. Paul, Beeson, David, Willcox, Nick, Vincent, Angela
Published in Brain (London, England : 1878) (01.07.2008)
Published in Brain (London, England : 1878) (01.07.2008)
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Journal Article
Structures of the human adult muscle-type nicotinic receptor in resting and desensitized states
Li, Anna, Pike, Ashley C.W., Webster, Richard, Maxwell, Susan, Liu, Wei-Wei, Chi, Gamma, Palace, Jacqueline, Beeson, David, Sauer, David B., Dong, Yin Yao
Published in Cell reports (Cambridge) (27.05.2025)
Published in Cell reports (Cambridge) (27.05.2025)
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Journal Article
Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line
Cetin, Hakan, Liu, Wei, Cheung, Jonathan, Cossins, Judith, Vanhaesebrouck, An, Maxwell, Susan, Vincent, Angela, Beeson, David, Webster, Richard
Published in The Journal of physiology (01.07.2019)
Published in The Journal of physiology (01.07.2019)
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Journal Article
Motor end-plate analysis to diagnose immune-mediated myasthenia gravis in seronegative patients
Nagaoka, Atsushi, Tsujino, Akira, Shiraishi, Hirokazu, Kanamoto, Tadashi, Shima, Tomoaki, Yoshimura, Shunsuke, Miyazaki, Teiichiro, Tateishi, Yohei, Tsujihata, Mitsuhiro, Motomura, Masakatsu, Maxwell, Susan, Higuchi, Osamu, Beeson, David, Vincent, Angela
Published in Journal of the Neurological Sciences (15.12.2022)
Published in Journal of the Neurological Sciences (15.12.2022)
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Journal Article
Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
Ehrstedt, Christoffer, Liu, Wei-Wei, Frykholm, Carina, Beeson, David, Punga, Anna Rostedt
Published in Neuromuscular disorders : NMD (01.01.2022)
Published in Neuromuscular disorders : NMD (01.01.2022)
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Journal Article
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations
Rodríguez Cruz, Pedro M., Cossins, Judith, de Paula Estephan, Eduardo, Munell, Francina, Selby, Kathryn, Hirano, Michio, Maroofin, Reza, Mehrjardi, Mohammad Yahya Vahidi, Chow, Gabriel, Carr, Aisling, Manzur, Adnan, Robb, Stephanie, Munot, Pinki, Wei Liu, Wei, Banka, Siddharth, Fraser, Harry, De Goede, Christian, Zanoteli, Edmar, Conti Reed, Umbertina, Sage, Abigail, Gratacos, Margarida, Macaya, Alfons, Dusl, Marina, Senderek, Jan, Töpf, Ana, Hofer, Monika, Knight, Ravi, Ramdas, Sithara, Jayawant, Sandeep, Lochmüller, Hans, Palace, Jacqueline, Beeson, David
Published in Brain (London, England : 1878) (01.06.2019)
Published in Brain (London, England : 1878) (01.06.2019)
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Journal Article
Clinical features of the myasthenic syndrome arising from mutations in GMPPB
Rodríguez Cruz, Pedro M, Belaya, Katsiaryna, Basiri, Keivan, Sedghi, Maryam, Farrugia, Maria Elena, Holton, Janice L, Liu, Wei Wei, Maxwell, Susan, Petty, Richard, Walls, Timothy J, Kennett, Robin, Pitt, Matthew, Sarkozy, Anna, Parton, Matt, Lochmüller, Hanns, Muntoni, Francesco, Palace, Jacqueline, Beeson, David
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2016)
Published in Journal of neurology, neurosurgery and psychiatry (01.08.2016)
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Journal Article
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
Published in Annals of the New York Academy of Sciences (01.12.2012)
Published in Annals of the New York Academy of Sciences (01.12.2012)
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Journal Article
Assessing the Utility of ColabFold and AlphaMissense in Determining Missense Variant Pathogenicity for Congenital Myasthenic Syndromes
Ryan-Phillips, Finlay, Henehan, Leighann, Ramdas, Sithara, Palace, Jacqueline, Beeson, David, Dong, Yin Yao
Published in Biomedicines (01.11.2024)
Published in Biomedicines (01.11.2024)
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Journal Article
Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain
Logan, Clare V., Cossins, Judith, Rodríguez Cruz, Pedro M., Parry, David A., Maxwell, Susan, Martínez-Martínez, Pilar, Riepsaame, Joey, Abdelhamed, Zakia A., Lake, Alice V.R., Moran, Maria, Robb, Stephanie, Chow, Gabriel, Sewry, Caroline, Hopkins, Philip M., Sheridan, Eamonn, Jayawant, Sandeep, Palace, Jacqueline, Johnson, Colin A., Beeson, David
Published in American journal of human genetics (03.12.2015)
Published in American journal of human genetics (03.12.2015)
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Journal Article