Search Results - "Cossins, Judith"

The Neuromuscular Junction in Health and Disease: Molecular Mechanisms Governing Synaptic Formation and Homeostasis by Rodríguez Cruz, Pedro M, Cossins, Judith, Beeson, David, Vincent, Angela

“…The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron nerve terminal and its muscle fiber that are responsible for converting…”
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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 Koneczny, Inga, Cossins, Judith, Waters, Patrick, Beeson, David, Vincent, Angela

“…A variable proportion of patients with generalized myasthenia gravis (MG) have autoantibodies to muscle specific tyrosine kinase (MuSK). During development…”
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Effect of salbutamol on neuromuscular junction function and structure in a mouse model of DOK7 congenital myasthenia by Webster, Richard G, Vanhaesebrouck, An E, Maxwell, Susan E, Cossins, Judith A, Liu, Weiwei, Ueta, Ryo, Yamanashi, Yuji, Beeson, David M W

“…Abstract Congenital myasthenic syndromes (CMS) are characterized by fatigable muscle weakness resulting from impaired neuromuscular transmission. β2-adrenergic…”
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The role of muscle‐specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis by Koneczny, Inga, Cossins, Judith, Vincent, Angela

“…MuSK myasthenia gravis is a rare, severe autoimmune disease of the neuromuscular junction, only identified in 2001, with unclear pathogenic mechanisms. In this…”
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Passive and active immunization models of MuSK-Ab positive myasthenia: Electrophysiological evidence for pre and postsynaptic defects by Viegas, Stuart, Jacobson, Leslie, Waters, Patrick, Cossins, Judith, Jacob, Saiju, Leite, M. Isabel, Webster, Richard, Vincent, Angela

“…Antibodies directed against the post-synaptic neuromuscular junction protein, muscle specific kinase (MuSK) are found in a small proportion of generalized…”
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The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations by Rodríguez Cruz, Pedro M, Cossins, Judith, Estephan, Eduardo de Paula, 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

“…Next generation sequencing techniques were recently used to show mutations in COL13A1 cause synaptic basal lamina-associated congenital myasthenic syndrome…”
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Beta-2 Adrenergic Receptor Agonists Enhance AChR Clustering in C2C12 Myotubes: Implications for Therapy of Myasthenic Disorders by Clausen, Lisa, Cossins, Judith, Beeson, David

“…Congenital myasthenic syndromes (CMS) are a group of inherited neuromuscular transmission disorders causing fatiguable muscle weakness. ADRB2 agonists have…”
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The search for new antigenic targets in myasthenia gravis by Cossins, Judith, Belaya, Katsiaryna, Zoltowska, Katarzyna, Koneczny, Inga, Maxwell, Susan, Jacobson, Leslie, Leite, Maria Isabel, Waters, Patrick, Vincent, Angela, Beeson, David

“…Around 80% of myasthenia gravis patients have antibodies against the acetylcholine receptor, and 0–60% of the remaining patients have antibodies against the…”
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Congenital Myasthenic Syndrome Type 19 Is Caused by Mutations in COL13A1, Encoding the Atypical Non-fibrillar Collagen Type XIII α1 Chain by 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

“…The neuromuscular junction (NMJ) consists of a tripartite synapse with a presynaptic nerve terminal, Schwann cells that ensheathe the terminal bouton, and a…”
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IgG1-3 MuSK Antibodies Inhibit AChR Cluster Formation, Restored by SHP2 Inhibitor, Despite Normal MuSK, DOK7, or AChR Subunit Phosphorylation by Cao, Michelangelo, Liu, Wei-Wei, Maxwell, Susan, Huda, Saif, Webster, Richard, Evoli, Amelia, Beeson, David, Cossins, Judith A, Vincent, Angela

“…Up to 50% of patients with myasthenia gravis (MG) without acetylcholine receptor antibodies (AChR-Abs) have antibodies to muscle-specific kinase (MuSK). Most…”
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β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure by 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

“…Acetylcholine receptor deficiency is the most common form of the congenital myasthenic syndromes, a heterogeneous collection of genetic disorders of…”
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Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series by Taylor, John, Craft, Jude, Blair, Edward, Wordsworth, Sarah, Beeson, David, Chandratre, Saleel, Cossins, Judith, Lester, Tracy, Németh, Andrea H, Ormondroyd, Elizabeth, Patel, Smita Y, Pagnamenta, Alistair T, Taylor, Jenny C, Thomson, Kate L, Watkins, Hugh, Wilkie, Andrew O M, Knight, Julian C

“…A multi-disciplinary approach to promote engagement, inform decision-making and support clinicians and patients is increasingly advocated to realise the…”
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Seronegative antibody‐mediated neurology after immune checkpoint inhibitors by Wilson, Robert, Menassa, David A., Davies, Alexander J., Michael, Sophia, Hester, Joanna, Kuker, Wilhelm, Collins, Graham P., Cossins, Judith, Beeson, David, Steven, Neil, Maddison, Paul, Rinaldi, Simon, Jacob, Saiju, Irani, Sarosh R.

“…Checkpoint inhibitor medications have revolutionized oncology practice, but frequently induce immune‐related adverse events. During autoimmune neurology…”
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Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission by Cossins, Judith, Webster, Richard, Maxwell, Susan, Rodríguez Cruz, Pedro M, Knight, Ravi, Llewelyn, John Gareth, Shin, Ji-Yeon, Palace, Jacqueline, Beeson, David

“…Abstract Congenital myasthenic syndromes are inherited disorders characterized by fatiguable muscle weakness resulting from impaired signal transmission at the…”
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Congenital Myasthenic Syndromes and the Formation of the Neuromuscular Junction by Beeson, David, Webster, Richard, Cossins, Judith, Lashley, Daniel, Spearman, Hayley, Maxwell, Susan, Slater, Clarke R., Newsom-Davis, John, Palace, Jacqueline, Vincent, Angela

“…The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromuscular transmission. Underlying mutations have been…”
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Characterisation of a novel mouse model for congenital myasthenic syndrome due to a mutation in CHRND by Alabaf, Setareh, Webster, Richard, Cossins, Judith, Liu, Wei Wei, Maxwell, Susan, Beeson, David, Dong, Yin

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Silencing of FCRLB by shRNA ameliorates MuSK-induced EAMG in mice by Koral, Gizem, Ulusoy, Canan, Cossins, Judith, Lazaridis, Konstantinos, Türkoğlu, Recai, Dong, Yin Yao, Tüzün, Erdem, Yılmaz, Vuslat

“…Muscle specific kinase (MuSK) antibody positive myasthenia gravis (MG) often presents with a severe disease course and resistance to treatment…”
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Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line by Cetin, Hakan, Liu, Wei, Cheung, Jonathan, Cossins, Judith, Vanhaesebrouck, An, Maxwell, Susan, Vincent, Angela, Beeson, David, Webster, Richard

“…Key points The physiological significance of the developmental switch from fetal to adult acetylcholine receptors in muscle (AChRs) and the functional impact…”
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A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report by Chang, Thashi, Cossins, Judith, Beeson, David

“…Congenital myasthenic syndromes (CMSs) occur as a result of genetic mutations that cause aberrations in structure and/or function of proteins involved in…”
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Searching for Serum Antibodies to Neuronal Proteins in Patients With Myalgic Encephalopathy/Chronic Fatigue Syndrome by Giannoccaro, Maria Pia, Cossins, Judith, Sørland, Kari, Fluge, Øystein, Vincent, Angela

“…A role for the immune system in causing myalgic encephalopathy/chronic fatigue syndrome (ME/CFS) is long suspected, but few studies have looked for specific…”
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