1. Advances in neuromuscular disorders – an update. Issue 6 (June 2017) Authors: Ramdas, Sithara; Jayawant, Sandeep Journal: Paediatrics and child health Issue: Volume 27:Issue 6(2017) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity. (August 2018) Authors: Ladds, Emma; Whitney, Andrea; Dombi, Eszter; Hofer, Monika; Anand, Geetha; Harrison, Victoria; Fratter, Carl; Carver, Janet; Barbosa, Ines A.; Simpson, Michael; Jayawant, Sandeep; Poulton, Joanna Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia. Issue 8 (30th May 2020) Authors: Ng, Joanne; Cortès‐Saladelafont, Elisenda; Abela, Lucia; Termsarasab, Pichet; Mankad, Kshitij; Sudhakar, Sniya; Gorman, Kathleen M.; Heales, Simon J.R.; Pope, Simon; Biassoni, Lorenzo; Csányi, Barbara; Cain, John; Rakshi, Karl; Coutts, Helen; Jayawant, Sandeep; Jefferson, Rosalind; Hughes, Debora... Journal: Movement disorders Issue: Volume 35:Issue 8(2020) Page Start: 1357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Electroclinical outcome of children referred with suspected absence seizures. Issue 10 (8th September 2011) Authors: Anand, Geetha; Padeniya, Anuruddha; Jain, Rakesh; Hasan, Nadeem; Jayawant, Sandeep; Pike, Michael; McShane, Tony; Zaiwalla, Zenobia Journal: Archives of disease in childhood Issue: Volume 96:Issue 10(2011) Page Start: 987 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. H1N1 Triggered Recurrent Acute Necrotizing Encephalopathy in a Family With a T653I Mutation in the RANBP2 Gene. Issue 3 (March 2015) Authors: Anand, Geetha; Visagan, Ravindran; Chandratre, Saleel; Segal, Shelley; Nemeth, Andrea H.; Squier, Waney; Sheerin, Fintan; Neilson, Derek; Jayawant, Sandeep Journal: Pediatric infectious disease journal Issue: Volume 34:Issue 3(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. (July 2015) Authors: Brunklaus, Andreas; Ellis, Rachael; Stewart, Helen; Aylett, Sarah; Reavey, Eleanor; Jefferson, Ros; Jain, Rakesh; Chakraborty, Supratik; Jayawant, Sandeep; Zuberi, Sameer M. Journal: European journal of paediatric neurology Issue: Volume 19:Number 4(2015:Jul.) Page Start: 484 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. How common is childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital myasthenia. Issue 6 (5th February 2014) Authors: Parr, Jeremy Ross; Andrew, Morag Jane; Finnis, Maria; Beeson, David; Vincent, Angela; Jayawant, Sandeep Journal: Archives of disease in childhood Issue: Volume 99:Issue 6(2014) Page Start: 539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Infantile neuroaxonal dystrophy caused by uniparental disomy. (15th November 2013) Authors: Solomons, Joyce; Ridgway, Oliver; Hardy, Carol; Kurian, Manju; Jayawant, Sandeep; Hughes, Sarah; Pretorius, Pieter; Németh, Andrea H Journal: Developmental medicine & child neurology Issue: Volume 56:Number 4(2014:Apr.) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. It is all in the history, or is it?. Issue 1 (22nd June 2011) Authors: Anand, Geetha; Jayawant, Sandeep; McShane, Tony; Pike, Michael Journal: Archives of disease in childhood Issue: Volume 97:Issue 1(2012) Page Start: 17 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗