The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes

by Pedro M. Rodríguez Cruz, Jacqueline Palace, David Beeson
Published 2018-06-01

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

by Pedro M. Rodríguez Cruz, Pedro M. Rodríguez Cruz, Judith Cossins, Judith Cossins, David Beeson, David Beeson, Angela Vincent, Angela Vincent
Published 2020-12-01

MuSK myasthenia gravis IgG4 disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse preformed agrin-independent AChR clusters.

by Inga Koneczny, Judith Cossins, Patrick Waters, David Beeson, Angela Vincent
Published 2013-01-01

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

by Hakan Cetin, Hakan Cetin, David Beeson, Angela Vincent, Richard Webster
Published 2020-09-01

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

by Rachel Thompson, Angela Abicht, David Beeson, Andrew G. Engel, Bruno Eymard, Emmanuel Maxime, Hanns Lochmüller
Published 2018-11-01

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

by Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao
Published 2017-12-01

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series

by John Taylor, Jude Craft, Edward Blair, Sarah Wordsworth, David Beeson, Saleel Chandratre, Judith Cossins, Tracy Lester, Andrea H. Németh, Elizabeth Ormondroyd, Smita Y. Patel, Alistair T. Pagnamenta, Jenny C. Taylor, Kate L. Thomson, Hugh Watkins, Andrew O. M. Wilkie, Julian C. Knight
Published 2019-07-01