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

由 Vanhaesebrouck, An E., Beeson, David
發表在 Curr Opin Neurol (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

由 Chang, Thashi, Cossins, Judith, Beeson, David
發表在 BMC Neurol (2016)

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

由 Clausen, Lisa, Cossins, Judith, Beeson, David
發表在 J Neuromuscul Dis (2018)

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

由 Abdelgany, Amr, Ealing, John, Wood, Matthew, Beeson, David
出版 2005

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

由 Abdelgany, Amr, Ealing, John, Wood, Matthew, Beeson, David
出版 2005

The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

由 Rodríguez Cruz, Pedro M., Palace, Jacqueline, Beeson, David
發表在 Int J Mol Sci (2018)

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

由 Cetin, Hakan, Beeson, David, Vincent, Angela, Webster, Richard
發表在 Front Mol Neurosci (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

由 Koneczny, Inga, Cossins, Judith, Waters, Patrick, Beeson, David, Vincent, Angela
出版 2013

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

由 Rodríguez Cruz, Pedro M., Cossins, Judith, Beeson, David, Vincent, Angela
發表在 Front Mol Neurosci (2020)

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

由 Abdelgany, Amr, Uddin, M Khabir, Wood, Matthew, Taira, Kazunari, Beeson, David
出版 2005

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

由 Basiri, Keivan, Belaya, Katsiaryna, Liu, Wei Wei, Maxwell, Susan, Sedghi, Maryam, Beeson, David
出版 2013

Salbutamol-responsive fetal acetylcholine receptor inactivation syndrome

由 Allen, Nicholas M., Hacohen, Yael, Palace, Jacqueline, Beeson, David, Vincent, Angela, Jungbluth, Heinz
發表在 Neurology (2016)

Collagen Q – A potential target for autoantibodies in myasthenia gravis

由 Zoltowska Katarzyna, Marta, Belaya, Katsiaryna, Leite, Maria, Patrick, Waters, Vincent, Angela, Beeson, David
發表在 J Neurol Sci (2014)

Salbutamol and ephedrine in the treatment of severe AChR deficiency syndromes

由 Rodríguez Cruz, Pedro M., Palace, Jacqueline, Ramjattan, Hayley, Jayawant, Sandeep, Robb, Stephanie A., Beeson, David
發表在 Neurology (2015)

Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome

由 Belaya, Katsiaryna, Finlayson, Sarah, Cossins, Judith, Liu, Wei Wei, Maxwell, Susan, Palace, Jacqueline, Beeson, David
發表在 Ann N Y Acad Sci (2012)

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

由 Thompson, Rachel, Abicht, Angela, Beeson, David, Engel, Andrew G., Eymard, Bruno, Maxime, Emmanuel, Lochmüller, Hanns
發表在 Orphanet J Rare Dis (2018)

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

由 Cetin, Hakan, Liu, Wei, Cheung, Jonathan, Cossins, Judith, Vanhaesebrouck, An, Maxwell, Susan, Vincent, Angela, Beeson, David, Webster, Richard
發表在 J Physiol (2019)

Acetylcholine receptor δ subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

由 Brownlow, Sharon, Webster, Richard, Croxen, Rebecca, Brydson, Martin, Neville, Brian, Lin, Jean-Pierre, Vincent, Angela, Newsom-Davis, John, Beeson, David
出版 2001

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

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

Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs

由 Cetin, Hakan, Webster, Richard, Liu, Wei Wei, Nagaishi, Akiko, Koneczny, Inga, Zimprich, Fritz, Maxwell, Susan, Cossins, Judith, Beeson, David, Vincent, Angela
發表在 J Neurol Neurosurg Psychiatry (2020)