1. Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality. Issue 2 (12th July 2012) Authors: Collongues, N.; Depienne, C.; Boehm, N.; Echaniz‐Laguna, A.; Samama, B.; Dürr, A.; Stevanin, G.; Leguern, E.; Brice, A.; Labauge, P.; de, J. Journal: European journal of neurology Issue: Volume 20:Issue 2(2013:Feb.) Page Start: 398 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. PRRT2 mutations and paroxysmal disorders. Issue 6 (9th February 2013) Authors: Méneret, A.; Gaudebout, C.; Riant, F.; Vidailhet, M.; Depienne, C.; Roze, E. Journal: European journal of neurology Issue: Volume 20:Issue 6(2013:Jun.) Page Start: 872 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Corpus callosum agenesis with clinically normal people caused by DCC mutations. Prenatal implication. (June 2017) Authors: Billette de Villemeur, T.; Valence, S.; Heron, D.; Heide, S.; Keren, B.; Nava, C.; des Portes, V.; Garel, C.; Blondiaux, E.; Afenjar, A.; Mignot, C.; Rastetter, A.; Depienne, C.; Moutard, M.-L. Journal: European journal of paediatric neurology Issue: Volume 21(2017)Supplement 1 Page Start: e43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. Issue 3 (4th October 2017) Authors: Chérot, E.; Keren, B.; Dubourg, C.; Carré, W.; Fradin, M.; Lavillaureix, A.; Afenjar, A.; Burglen, L.; Whalen, S.; Charles, P.; Marey, I.; Heide, S.; Jacquette, A.; Heron, D.; Doummar, D.; Rodriguez, D.; Billette de Villemeur, T.; Moutard, M.‐L.; Guët, A.; Xavier, J. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗