The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies

por Vanhaesebrouck, An E., Beeson, David
Publicado 2019

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report

por Chang, Thashi, Cossins, Judith, Beeson, David
Publicado 2016

Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders

por Clausen, Lisa, Cossins, Judith, Beeson, David
Publicado 2018

Selective cleavage of AChR cRNAs harbouring mutations underlying the slow channel myasthenic syndrome by hammerhead ribozymes

por Abdelgany, Amr, Ealing, John, Wood, Matthew, Beeson, David
Publicado 2005

Selective DNAzyme-mediated cleavage of AChR mutant transcripts by targeting the mutation site or through mismatches in the binding arm

por Abdelgany, Amr, Ealing, John, Wood, Matthew, Beeson, David
Publicado 2005

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

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

The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle

por Cetin, Hakan, Beeson, David, Vincent, Angela, Webster, Richard
Publicado 2020

MuSK Myasthenia Gravis IgG4 Disrupts the Interaction of LRP4 with MuSK but Both IgG4 and IgG1-3 Can Disperse Preformed Agrin-Independent AChR Clusters

por Koneczny, Inga, Cossins, Judith, Waters, Patrick, Beeson, David, Vincent, Angela
Publicado 2013

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

Design of efficient DNAzymes against muscle AChR α-subunit cRNA in vitro and in HEK 293 cells

por Abdelgany, Amr, Uddin, M Khabir, Wood, Matthew, Taira, Kazunari, Beeson, David
Publicado 2005

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1

por Basiri, Keivan, Belaya, Katsiaryna, Liu, Wei Wei, Maxwell, Susan, Sedghi, Maryam, Beeson, David
Publicado 2013

A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

por Thompson, Rachel, Abicht, Angela, Beeson, David, Engel, Andrew G., Eymard, Bruno, Maxime, Emmanuel, Lochmüller, Hanns
Publicado 2018

Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line

por Cetin, Hakan, Liu, Wei, Cheung, Jonathan, Cossins, Judith, Vanhaesebrouck, An, Maxwell, Susan, Vincent, Angela, Beeson, David, Webster, Richard
Publicado 2019

IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation

por Cao, Michelangelo, Liu, Wei-Wei, Maxwell, Susan, Huda, Saif, Webster, Richard, Evoli, Amelia, Beeson, David, Cossins, Judith A., Vincent, Angela
Publicado 2023

IgG1 antibodies to acetylcholine receptors in ‘seronegative’ myasthenia gravis(†)

por Leite, Maria Isabel, Jacob, Saiju, Viegas, Stuart, Cossins, Judy, Clover, Linda, Morgan, B. Paul, Beeson, David, Willcox, Nick, Vincent, Angela
Publicado 2008

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs

por Cetin, Hakan, Webster, Richard, Liu, Wei Wei, Nagaishi, Akiko, Koneczny, Inga, Zimprich, Fritz, Maxwell, Susan, Cossins, Judith, Beeson, David, Vincent, Angela
Publicado 2020

Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia

por Webster, Richard G, Vanhaesebrouck, An E, Maxwell, Susan E, Cossins, Judith A, Liu, Weiwei, Ueta, Ryo, Yamanashi, Yuji, Beeson, David M W
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

Characterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations

por Lewis, Andrew, Finlayson, Sarah, Mahmod, Masliza, Karamitsos, Theodoros D, Dass, Sairia, Ashrafian, Houman, Francis, Jane M, Watkins, Hugh, Beeson, David, Palace, Jacqueline, Neubauer, Stefan
Publicado 2014