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. Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56. (31st March 2021) Authors: Legrand, A.; Pujol, C.; Durand, C. M.; Mesnil, A.; Rubera, I.; Duranton, C.; Zuily, S.; Sousa, A. B.; Renaud, M.; Boucher, J. L.; Pietrancosta, N.; Adham, S.; Orssaud, C.; Marelli, C.; Casali, C.; Ziccardi, L.; Villain, N.; Ewenczyk, C.; Durr, A.; Mignot, C. Journal: Journal of internal medicine Issue: Volume 289:Number 5(2021) Page Start: 709 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗