1. Clinical features of the myasthenic syndrome arising from mutations in GMPPB. Issue 8 (4th May 2016) Authors: Rodríguez Cruz, Pedro M; Belaya, Katsiaryna; Basiri, Keivan; Sedghi, Maryam; Farrugia, Maria Elena; Holton, Janice L; Liu, Wei Wei; Maxwell, Susan; Petty, Richard; Walls, Timothy J; Kennett, Robin; Pitt, Matthew; Sarkozy, Anna; Parton, Matt; Lochmüller, Hanns; Muntoni, Francesco; Palace, Jacqueli... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 8(2016) Page Start: 802 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. 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) ↗
4. LIMB GIRDLE SYNDROMES: MYASTHENIA OR MYOPATHY. Issue 12 (15th November 2016) Authors: Cruz, Pedro Rodriguez; Belaya, Katsiaryna; Cossins, Judy; Liu, Wei Wei; Maxwell, Susan; Petty, Richard; Farrugia, Maria; Walls, Timothy; Beeson, David; Palace, Jacqueline Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 12(2016) Page Start: e1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Merging Two Robust Women's Services in Alignment With a Comprehensive Nursing Strategic Business Plan. Issue 1 (June 2014) Authors: Maxwell, Susan; Wellman, Lynn G.; Savage, Tracey Journal: Journal of obstetric, gynecologic, and neonatal nursing Issue: Volume 43:Issue 1(2014) Page Start: S49 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. 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) ↗
8. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Issue 1 (December 2015) Authors: Todd, Emily; Yau, Kyle; Ong, Royston; Slee, Jennie; McGillivray, George; Barnett, Christopher; Haliloglu, Goknur; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel; Freckmann, Mary-Louise; Romero, Norma; Williams, Denise; Sewry, Caroline; Colley, Alison; Ryan, Moniqu... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth. Issue 1 (December 2015) Authors: Todd, Emily; Yau, Kyle; Ong, Royston; Slee, Jennie; McGillivray, George; Barnett, Christopher; Haliloglu, Goknur; Talim, Beril; Akcoren, Zuhal; Kariminejad, Ariana; Cairns, Anita; Clarke, Nigel; Freckmann, Mary-Louise; Romero, Norma; Williams, Denise; Sewry, Caroline; Colley, Alison; Ryan, Moniqu... Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. 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) ↗