1. Contribution of copy number variations in CMT1X: a retrospective study. (12th April 2014) Authors: Capponi, S.; Geroldi, A.; Pezzini, I.; Gulli, R.; Ciotti, P.; Ursino, G.; Lamp, M.; Reni, L.; Schenone, A.; Grandis, M.; Mandich, P.; Bellone, E. Journal: European journal of neurology Issue: Volume 22:Number 2(2015:Feb.) Page Start: 406 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. SOD1 p.D12Y variant is associated with amyotrophic lateral sclerosis/distal myopathy spectrum. (28th April 2020) Authors: Tasca, G.; Lattante, S.; Marangi, G.; Conte, A.; Bernardo, D.; Bisogni, G.; Mandich, P.; Zollino, M.; Ragozzino, E.; Udd, B.; Sabatelli, M. Journal: European journal of neurology Issue: Volume 27:Number 7(2020) Page Start: 1304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗