1. 094 The adult phenotypes of paediatric-onset genetic epilepsies. Issue 12 (14th November 2019) Authors: Lewis-Smith, David; Craig, Donald; Thomas, Rhys Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 12(2019) Page Start: A29 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 140 How can we maximise discovery potential from sparse clinical information?. Issue 6 (27th May 2022) Authors: Lewis-Smith, David; Galer, Peter D; Ganesan, Shiva; Ellis, Colin A; Thomas, Rhys H; Helbig, Ingo Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 6(2022) Page Start: A54 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. (10th August 2021) Authors: Accogli, Andrea; Wiegand, Gert; Scala, Marcello; Cerminara, Caterina; Iacomino, Michele; Riva, Antonella; Carlini, Barbara; Camerota, Letizia; Belcastro, Vincenzo; Prontera, Paolo; Fernández-Jaén, Alberto; Bebek, Nerses; Scudieri, Paolo; Baldassari, Simona; Salpietro, Vincenzo; Novelli, Giuseppe;... Journal: Neurology Issue: Volume 97:Number 6(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood. (April 2016) Authors: Lewis-Smith, David; Kamer, Kimberli J.; Griffin, Helen; Childs, Anne-Marie; Pysden, Karen; Titov, Denis; Duff, Jennifer; Pyle, Angela; Taylor, Robert W.; Yu-Wai-Man, Patrick; Ramesh, Venkateswaran; Horvath, Rita; Mootha, Vamsi K.; Chinnery, Patrick F. Journal: Neurology Issue: Volume 2:Number 2(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. (19th July 2022) Authors: Stamberger, Hannah; Crosiers, David; Balagura, Ganna; Bonardi, Claudia M.; Basu, Anna; Cantalupo, Gaetano; Chiesa, Valentina; Christensen, Jakob; Dalla Bernardina, Bernardo; Ellis, Colin A.; Furia, Francesca; Gardiner, Fiona; Giron, Camille; Guerrini, Renzo; Klein, Karl Martin; Korff, Christian; ... Journal: Neurology Issue: Volume 99:Number 3(2022) Page Start: e221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Phenotypic convergence of Menkes and Wilson disease. (December 2016) Authors: Bansagi, Boglarka; Lewis-Smith, David; Pal, Endre; Duff, Jennifer; Griffin, Helen; Pyle, Angela; Müller, Juliane S.; Rudas, Gabor; Aranyi, Zsuzsanna; Lochmüller, Hanns; Chinnery, Patrick F.; Horvath, Rita Journal: Neurology Issue: Volume 2:Number 6(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. SCP2 mutations and neurodegeneration with brain iron accumulation. (24th November 2015) Authors: Horvath, Rita; Lewis-Smith, David; Douroudis, Konstantinos; Duff, Jennifer; Keogh, Michael; Pyle, Angela; Fletcher, Nicholas; Chinnery, Patrick F. Journal: Neurology Issue: Volume 85:Number 21(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The Human Phenotype Ontology in 2021. Issue Volume 49:Issue D1(2021) (2nd December 2020) Authors: Köhler, Sebastian; Gargano, Michael; Matentzoglu, Nicolas; Carmody, Leigh C; Lewis-Smith, David; Vasilevsky, Nicole A; Danis, Daniel; Balagura, Ganna; Baynam, Gareth; Brower, Amy M; Callahan, Tiffany J; Chute, Christopher G; Est, Johanna L; Galer, Peter D; Ganesan, Shiva; Griese, Matthias; Haimel... Journal: Nucleic acids research Issue: Volume 49:Issue D1(2021) Page Start: D1207 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. THE NEWCASTLE EXPERIENCE OF ANTI-MOG ASSOCIATED DISEASE. Issue 12 (15th November 2016) Authors: Bolton, Clare; Chapman, James; Ledingham, David; Lewis-Smith, David; Spyropoulos, Achillefs; Guadagno, Joe; Duddy, Martin 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) ↗