1. A Pan‐European Study of the C9orf72 Repeat Associated with FTLD: Geographic Prevalence, Genomic Instability, and Intermediate Repeats. Issue 2 (4th January 2013) Authors: van der Zee, Julie; Gijselinck, Ilse; Dillen, Lubina; Van Langenhove, Tim; Theuns, Jessie; Engelborghs, Sebastiaan; Philtjens, Stéphanie; Vandenbulcke, Mathieu; Sleegers, Kristel; Sieben, Anne; Bäumer, Veerle; Maes, Githa; Corsmit, Ellen; Borroni, Barbara; Padovani, Alessandro; Archetti, Silvana;... Journal: Human mutation Issue: Volume 34:Issue 2(2013:Feb.) Page Start: 363 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Issue 4 (11th March 2016) Authors: Schüle, Rebecca; Wiethoff, Sarah; Martus, Peter; Karle, Kathrin N.; Otto, Susanne; Klebe, Stephan; Klimpe, Sven; Gallenmüller, Constanze; Kurzwelly, Delia; Henkel, Dorothea; Rimmele, Florian; Stolze, Henning; Kohl, Zacharias; Kassubek, Jan; Klockgether, Thomas; Vielhaber, Stefan; Kamm, Christoph;... Journal: Annals of neurology Issue: Volume 79:Issue 4(2016:Apr.) Page Start: 646 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. (4th June 2019) Authors: Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P.C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schöls, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria ... Journal: Neurology Issue: Volume 92:Number 23(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗