The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

por Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David
Publicado 2018

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis

por Rodríguez Cruz, Pedro M., Cossins, Judith, Beeson, David, Vincent, Angela
Publicado 2020

Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission

por Cossins, Judith, Webster, Richard, Maxwell, Susan, Rodríguez Cruz, Pedro M, Knight, Ravi, Llewelyn, John Gareth, Shin, Ji-Yeon, Palace, Jacqueline, Beeson, David
Publicado 2020

Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure

por Rodríguez Cruz, Pedro M., Cossins, Judith, Cheung, Jonathan, Maxwell, Susan, Jayawant, Sandeep, Herbst, Ruth, Waithe, Dominic, Kornev, Alexandr P., Palace, Jacqueline, Beeson, David
Publicado 2019

Muscle acetylcholine receptor conversion into chloride conductance at positive potentials by a single mutation

por Cetin, Hakan, Epstein, Max, Liu, Wei W., Maxwell, Susan, Rodriguez Cruz, Pedro M., Cossins, Judith, Vincent, Angela, Webster, Richard, Biggin, Philip C., Beeson, David
Publicado 2019

SHP2 inhibitor protects AChRs from effects of myasthenia gravis MuSK antibody

por 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
Publicado 2019

β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure

por 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
Publicado 2019

Muscle magnetic resonance imaging in congenital myasthenic syndromes

por Finlayson, Sarah, Morrow, Jasper M., Rodriguez Cruz, Pedro M., Sinclair, Christopher D.J., Fischmann, Arne, Thornton, John S., Knight, Steve, Norbury, Ray, White, Mel, Al‐hajjar, Michal, Carboni, Nicola, Jayawant, Sandeep, Robb, Stephanie A., Yousry, Tarek A., Beeson, David, Palace, Jacqueline
Publicado 2016

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

por 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
Publicado 2015

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

por 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
Publicado 2015

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations

por 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
Publicado 2019