21. 6q22.1 deletion is associated with epilepsy and abnormal movements. (June 2017) Authors: Schluth-Bolard, C.; Flamand-Roze, E.; Masurel, A.; Olivier-Faivre, L.; Callier, P.; Charles, P.; Keren, B.; Guillot, N.; Labalme, A.; Sanlaville, D.; Mochel, F.; Des Portes, V.; Lesca, G. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e52 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
22. 8q21.11 Microdeletion syndrome detected by array CGH : A case report. (June 2017) Authors: Park, Hae-yeon; Jun, So Youn; Cho, Ah-ra; Park, Joo Hyun Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
23. A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy. (September 2018) Authors: Goselink, Rianne J.M.; van Kernebeek, Caroline R.; Mul, Karlien; Lemmers, Richard J.L.F.; van der Maarel, Silvère M.; Brouwer, Oebele F.; Voermans, Nicol; Padberg, George W.; Erasmus, Corrie E.; van Engelen, Baziel G.M. Journal: European journal of paediatric neurology Issue: Volume 22:Number 5(2018:Sep.) Page Start: 782 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
24. A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy letter to the editor of european journal of pediatric neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by pechmann and colleagues". (July 2018) Authors: Sansone, V.A.; Pane, M.; Messina, S.; Bruno, C.; D'Amico, A.; Albamonte, E.; Catteruccia, M.; Sframeli, M.; Pedemonte, M.; Vita, G.; Bertini, E.; Mercuri, E.; Leone, Daniela; de Sanctis, Roberto; Forcina, Nicola; Piastra, Marco; Genovese, Orazio; Pedicelli, Alessandro; Versaci, Antonio; Rulli, Imma Journal: European journal of paediatric neurology Issue: Volume 22:Number 4(2018:Jul.) Page Start: 729 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
25. A 5-Year-Old Male Child With Late Infantile Metachromatic Leukodystrophy: A Case Report. (March 2015) Authors: Mahmood, Afreen; Chacham, Swathi; Reddy, Uppin Narayan; Rao, Jillalla Narsing; Rao, S. Pratap Journal: Journal of child neurology Issue: Volume 30:Number 4(2015:Mar.) Page Start: 483 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
26. A brother and sister with intellectual disability and characteristic neuroimaging findings. (September 2018) Authors: Hermens, Marjolein; van der Knaap, Marjo S.; Kamsteeg, Erik-Jan; Willemsen, Michèl A. Journal: European journal of paediatric neurology Issue: Volume 22:Number 5(2018:Sep.) Page Start: 866 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
27. A Case of Giant Intracranial Tuberculoma in an Infant: Clinical and Radiologic Pitfalls. (March 2015) Authors: Raheja, Amol; Sinha, Sumit; Sable, Mukund Namdev; Sharma, Mehar Chand; Sharma, Bhawani Shankar Journal: Journal of child neurology Issue: Volume 30:Number 3(2015:Mar.) Page Start: 364 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
28. A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. (March 2015) Authors: Fusco, Carlo; Frattini, Daniele; Panteghini, Celeste; Pascarella, Rosario; Garavaglia, Barbara Journal: Journal of child neurology Issue: Volume 30:Number 3(2015:Mar.) Page Start: 368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
29. A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. (December 2017) Authors: Dhamija, Radhika; Goodkin, Howard P.; Bailey, Russell; Chambers, Chelsea; Brenton, J. Nicholas Journal: Journal of child neurology Issue: Volume 32:Number 14(2017:Dec.) Page Start: 1123 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
30. A Case of Mercury Toxicity Complicated by Acute Inflammatory Demyelinating Polyneuropathy. (November 2018) Authors: Evans, Stacey; Smith, Jeffrey; Caron, Elena Journal: Journal of child neurology Issue: Volume 33:Number 13(2018:Dec.) Page Start: 817 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗