1. Insights into the genetic epidemiology of spinal and bulbar muscular atrophy: prevalence estimation and multiple founder haplotypes in the Veneto Italian region. (7th December 2018) Authors: Bertolin, C.; Querin, G.; Martinelli, I.; Pennuto, M.; Pegoraro, E.; Sorarù, G. Journal: European journal of neurology Issue: Volume 26:Number 3(2019) Page Start: 519 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. New FIG4 gene mutations causing aggressive ALS. (21st February 2018) Authors: Bertolin, C.; Querin, G.; Bozzoni, V.; Martinelli, I.; De Bortoli, M.; Rampazzo, A.; Gellera, C.; Pegoraro, E.; Sorarù, G. Journal: European journal of neurology Issue: Volume 25:Number 3(2018) Page Start: e41 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype. (June 2016) Authors: Bertolin, C.; Querin, G.; Da Re, E.; Sagnelli, A.; Bello, L.; Cao, M.; Muscas, M.; Pennuto, M.; Ermani, M.; Pegoraro, E.; Mariotti, C.; Gellera, C.; Hanna, M. G.; Pareyson, D.; Fratta, P.; Sorarù, G. Journal: European journal of neurology Issue: Volume 23:Number 6(2016:Jun.) Page Start: 1134 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The blurred scenario of motor neuron disorders linked to Spatacsin mutations: a case report. (October 2014) Authors: Querin, G.; Bertolin, C.; Martinuzzi, A.; Bassi, M. T.; Arnoldi, A.; Polo, A.; Pegoraro, E.; Sorarù, G. Journal: European journal of neurology Issue: Volume 21:Number 10(2014:Oct.) Page Start: e85 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗