The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes von Rodríguez Cruz, Pedro M, Palace, Jacqueline, Beeson, David

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Congenital myasthenic syndromes and the neuromuscular junction von Rodríguez Cruz, Pedro M, Palace, Jacqueline, Beeson, David

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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain von 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

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The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis von Rodriguez Cruz, Pedro M., Cossins, Judith, Beeson, David, Vincent, Angela

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Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis von Rodríguez Cruz, Pedro M, Al-Hajjar, Michal, Huda, Saif, Jacobson, Leslie, Woodhall, Mark, Jayawant, Sandeep, Buckley, Camilla, Hilton-Jones, David, Beeson, David, Vincent, Angela, Leite, Maria Isabel, Palace, Jacqueline

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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations von Rodríguez Cruz, Pedro M, Cossins, Judith, Estephan, Eduardo de Paula, 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

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Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies von Belaya, Katsiaryna, Rodríguez Cruz, Pedro M, Liu, Wei Wei, Maxwell, Susan, McGowan, Simon, Farrugia, Maria E, Petty, Richard, Walls, Timothy J, Sedghi, Maryam, Basiri, Keivan, Yue, Wyatt W, Sarkozy, Anna, Bertoli, Marta, Pitt, Matthew, Kennett, Robin, Schaefer, Andrew, Bushby, Kate, Parton, Matt, Lochmüller, Hanns, Palace, Jacqueline, Muntoni, Francesco, Beeson, David

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Clinical features of the myasthenic syndrome arising from mutations in GMPPB von 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

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Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes von Rodríguez Cruz, Pedro M, Palace, Jacqueline, Ramjattan, Hayley, Jayawant, Sandeep, Robb, Stephanie A, Beeson, David

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Inherited disorders of the neuromuscular junction: an update von Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David

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Post-Infectious Autoimmunity in the Central (CNS) and Peripheral (PNS) Nervous Systems: An African Perspective von Ndondo, Alvin Pumelele, Eley, Brian, Wilmshurst, Jo Madeleine, Kakooza-Mwesige, Angelina, Giannoccaro, Maria Pia, Willison, Hugh J, Cruz, Pedro M Rodríguez, Heckmann, Jeannine M, Bateman, Kathleen, Vincent, Angela

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An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathies von Rodríguez Cruz, Pedro M, Luo, Yue-Bei, Miller, James, Junckerstorff, Reimar C, Mastaglia, Frank L, Fabian, Victoria

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Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter von Rodríguez Cruz, Pedro M., Hughes, Imelda, Manzur, Adnan, Munot, Pinki, Ramdas, Sithara, Wright, Ronnie, Breen, Catherine, Pitt, Mathew, Pagnamenta, Alistair T., Taylor, Jenny C., Palace, Jacqueline, Beeson, David

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Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation von Cetin, Hakan, Epstein, Max, Liu, Wei W., Maxwell, Susan, Cruz, Pedro M. Rodriguez, Cossins, Judith, Vincent, Angela, Webster, Richard, Biggin, Philip C., Beeson, David

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260th ENMC International Workshop: Congenital myasthenic syndromes 11-13 March 2022, Hoofddorp, The Netherlands von Spendiff, Sally, Dong, Yin, Maggi, Lorenzo, Rodríguez Cruz, Pedro M, Beeson, David, Lochmüller, Hanns

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Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure von Rodríguez Cruz, Pedro M., Cossins, Judith, Cheung, Jonathan, Maxwell, Susan, Jayawant, Sandeep, Herbst, Ruth, Waithe, Dominic, Kornev, Alexandr P., Palace, Jacqueline, Beeson, David

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Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission von Cossins, Judith, Webster, Richard, Maxwell, Susan, Rodríguez Cruz, Pedro M, Knight, Ravi, Llewelyn, John Gareth, Shin, Ji-Yeon, Palace, Jacqueline, Beeson, David

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Congenital myopathies with secondary neuromuscular transmission defects; A case report and review of the literature von Rodríguez Cruz, Pedro M, Sewry, Caroline, Beeson, David, Jayawant, Sandeep, Squier, Waney, McWilliam, Robert, Palace, Jacqueline

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Long-term Thalamic Deep Brain Stimulation for Essential Tremor: Clinical Outcome and Stimulation Parameters von Rodríguez Cruz, Pedro M., Vargas, Antonio, Fernández-Carballal, Carlos, Garbizu, Jose, De La Casa-Fages, Beatriz, Grandas, Francisco

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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1 von Rodríguez Cruz, Pedro M, Ravenscroft, Gianina, Natera, Daniel, Carr, Aisling, Manzur, Adnan, Liu, Wei Wei, Vella, Norbert R, Jericó, Ivonne, Gonzalez-Quereda, Lidia, Gallano, Pia, Montalto, Simon Attard, Davis, Mark R, Lamont, Phillipa J, Laing, Nigel G, Bourque, Pierre, Nascimento, Andres, Muntoni, Francesco, Polavarapu, Kiran, Lochmüller, Hanns, Palace, Jacqueline, Beeson, David

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