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

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

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

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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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The role of cholesterol metabolism and cholesterol transport in carcinogenesis: a review of scientific findings, relevant to future cancer therapeutics von Cruz, Pedro M R, Mo, Huanbiao, McConathy, Walter J, Sabnis, Nirupama, Lacko, Andras G

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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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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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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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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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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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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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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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Sleep disordered breathing and subclinical impairment of respiratory function are common in sporadic inclusion body myositis von Rodríguez Cruz, Pedro M, Needham, Merrilee, Hollingsworth, Peter, Mastaglia, Frank L, Hillman, David R

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