1. A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report. Issue 1 (December 2016) Authors: Chang, Thashi; Cossins, Judith; Beeson, David Journal: BMC neurology Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1. Issue 10 (27th February 2013) Authors: Finlayson, Sarah; Palace, Jacqueline; Belaya, Katsiaryna; Walls, Timothy J; Norwood, Fiona; Burke, Georgina; Holton, Janice L; Pascual-Pascual, Samuel I; Cossins, Judith; Beeson, David Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 84:Issue 10(2013) Page Start: 1119 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Congenital myasthenic syndrome due to a TOR1AIP1 mutation: a new disease pathway for impaired synaptic transmission. Issue 2 (18th October 2020) Authors: Cossins, Judith; Webster, Richard; Maxwell, Susan; Rodríguez Cruz, Pedro M; Knight, Ravi; Llewelyn, John Gareth; Shin, Ji-Yeon; Palace, Jacqueline; Beeson, David Journal: Brain communications Issue: Volume 2:Issue 2(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure. Issue 3 (25th November 2019) Authors: Rodríguez Cruz, Pedro M.; Cossins, Judith; Cheung, Jonathan; Maxwell, Susan; Jayawant, Sandeep; Herbst, Ruth; Waithe, Dominic; Kornev, Alexandr P.; Palace, Jacqueline; Beeson, David Journal: Human mutation Issue: Volume 41:Issue 3(2020) Page Start: 619 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Myasthenia gravis AChR antibodies inhibit function of rapsyn-clustered AChRs. Issue 5 (12th March 2020) Authors: Cetin, Hakan; Webster, Richard; Liu, Wei Wei; Nagaishi, Akiko; Koneczny, Inga; Zimprich, Fritz; Maxwell, Susan; Cossins, Judith; Beeson, David; Vincent, Angela Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 91:Issue 5(2020) Page Start: 526 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Myasthenic syndromes due to defects in COL13A1 and in the N‐linked glycosylation pathway. Issue 1 (24th January 2018) Authors: Beeson, David; Cossins, Judith; Rodriguez‐Cruz, Pedro; Maxwell, Susan; Liu, Wei‐Wei; Palace, Jacqueline Journal: Annals of the New York Academy of Sciences Issue: Volume 1413:Issue 1(2018) Page Start: 163 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Rapsyn facilitates recovery from desensitization in fetal and adult acetylcholine receptors expressed in a muscle cell line. (17th June 2019) Authors: Cetin, Hakan; Liu, Wei; Cheung, Jonathan; Cossins, Judith; Vanhaesebrouck, An; Maxwell, Susan; Vincent, Angela; Beeson, David; Webster, Richard Journal: Journal of physiology Issue: Volume 597:Number 14(2019) Page Start: 3713 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Serological and experimental studies in different forms of myasthenia gravis. Issue 1 (29th January 2018) Authors: Vincent, Angela; Huda, Saif; Cao, Michelangelo; Cetin, Hakan; Koneczny, Inga; Rodriguez‐Cruz, Pedro; Jacobson, Leslie; Viegas, Stuart; Jacob, Saiju; Woodhall, Mark; Nagaishi, Akiko; Maniaol, Angelina; Damato, Valentina; Leite, M. Isabel; Cossins, Judith; Webster, Richard; Palace, Jacqueline; Bees... Journal: Annals of the New York Academy of Sciences Issue: Volume 1413:Issue 1(2018) Page Start: 143 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Seronegative antibody‐mediated neurology after immune checkpoint inhibitors. Issue 5 (25th March 2018) Authors: 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. Journal: Annals of clinical and translational neurology Issue: Volume 5:Issue 5(2018) Page Start: 640 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. The role of muscle‐specific tyrosine kinase (MuSK) and mystery of MuSK myasthenia gravis. Issue 1 (4th March 2013) Authors: Koneczny, Inga; Cossins, Judith; Vincent, Angela Journal: Journal of anatomy Issue: Volume 224:Issue 1(2014:Jan.) Page Start: 29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗