1. A 71‐nucleotide deletion in the periaxin gene in an Italian patient with late‐onset slowly progressive demyelinating Charcot‐Marie‐Tooth disease. (15th September 2020) Authors: Citrigno, L.; Zoccolella, S.; Lastella, P.; Simone, I. L.; Muglia, M. Journal: European journal of neurology Issue: Volume 27:Number 10(2020) Page Start: 2109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. First mutation in the nuclear localization signal sequence of spastin protein identified in a patient with hereditary spastic paraplegia. Issue 1 (22nd December 2012) Authors: Magariello, A.; Tortorella, C.; Patitucci, A.; Tortelli, R.; Liguori, M.; Mazzei, R.; Conforti, F. L.; Citrigno, L.; Ungaro, C.; Simone, I. L.; Muglia, M. Journal: European journal of neurology Issue: Volume 20:Issue 1(2013:Jan.) Page Start: e22 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Further evidence that DDHD2 gene mutations cause autosomal recessive hereditary spastic paraplegia with thin corpus callosum. (March 2014) Authors: Magariello, A.; Citrigno, L.; Zuchner, S.; Gonzalez, M.; Patitucci, A.; Sofia, V.; Conforti, F. L.; Pappalardo, I.; Mazzei, R.; Ungaro, C.; Zappia, M.; Muglia, M. Journal: European journal of neurology Issue: Volume 21:Number 3(2014:Mar.) Page Start: e25 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗