1. Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency. Issue 5 (24th April 2020) Authors: Ronchi, Dario; Monfrini, Edoardo; Bonato, Sara; Mancinelli, Veronica; Cinnante, Claudia; Salani, Sabrina; Bordoni, Andreina; Ciscato, Patrizia; Fortunato, Francesco; Villa, Marianna; Di Fonzo, Alessio; Corti, Stefania; Bresolin, Nereo; Comi, Giacomo P. Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 5(2020) Page Start: 839 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 Mutation. (6th August 2022) Authors: Manini, Arianna; Velardo, Daniele; Ciscato, Patrizia; Cinnante, Claudia; Moggio, Maurizio; Comi, Giacomo; Corti, Stefania; Ronchi, Dario Journal: Neurology Issue: Volume 8:Number 4(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Longitudinal follow-up and muscle MRI pattern of two siblings with polyglucosan body myopathy due to glycogenin-1 mutation. Issue 7 (22nd July 2015) Authors: Colombo, Irene; Pagliarani, Serena; Testolin, Silvia; Cinnante, Claudia Maria; Fagiolari, Gigliola; Ciscato, Patrizia; Bordoni, Andreina; Fortunato, Francesco; Magri, Francesca; Previtali, Stefano Carlo; Velardo, Daniele; Sciacco, Monica; Comi, Giacomo Pietro; Moggio, Maurizio Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 87:Issue 7(2016) Page Start: 797 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form. Issue 9 (24th June 2020) Authors: Telese, Roberta; Pagliarani, Serena; Lerario, Alberto; Ciscato, Patrizia; Fagiolari, Gigliola; Cassandrini, Denise; Grimoldi, Nadia; Conte, Giorgio; Cinnante, Claudia; Santorelli, Filippo M.; Comi, Giacomo P.; Sciacco, Monica; Peverelli, Lorenzo Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 9(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗