The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

por Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David
Publicado en Int J Mol Sci (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 en Front Mol Neurosci (2020)

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

por Rodríguez Cruz, Pedro M., Palace, Jacqueline, Ramjattan, Hayley, Jayawant, Sandeep, Robb, Stephanie A., Beeson, David
Publicado en Neurology (2015)

Long‐term Thalamic Deep Brain Stimulation for Essential Tremor: Clinical Outcome and Stimulation Parameters

por Rodríguez Cruz, Pedro M., Vargas, Antonio, Fernández‐Carballal, Carlos, Garbizu, Jose, De La Casa‐Fages, Beatriz, Grandas, Francisco
Publicado en Mov Disord Clin Pract (2016)

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 en Brain Commun (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 en Hum Mutat (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 en Proc Natl Acad Sci U S A (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 en Neurol Neuroimmunol Neuroinflamm (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 en Brain (2019)

Clinical Features and Diagnostic Usefulness of Antibodies to Clustered Acetylcholine Receptors in the Diagnosis of Seronegative Myasthenia Gravis

por 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
Publicado en JAMA Neurol (2015)

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 en Muscle Nerve (2016)

Clinical features of the myasthenic syndrome arising from mutations in GMPPB

por 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
Publicado en J Neurol Neurosurg Psychiatry (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 en Am J Hum Genet (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 en Brain (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 en Brain (2019)