1. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network. (30th April 2022) Authors: Rossi, Salvatore; Rubegni, Anna; Riso, Vittorio; Barghigiani, Melissa; Bassi, Maria Teresa; Battini, Roberta; Bertini, Enrico; Cereda, Cristina; Cioffi, Ettore; Criscuolo, Chiara; Dal Fabbro, Beatrice; Dato, Clemente; D'Angelo, Maria Grazia; Di Muzio, Antonio; Diamanti, Luca; Dotti, Maria Teresa;... Journal: Neurology Issue: Volume 8:Number 2(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Novel loss‐of‐function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia. Issue 4 (27th July 2015) Authors: Boaretto, Francesca; Cacciavillani, Mario; Mostacciuolo, Maria Luisa; Spalletta, Ambra; Piscosquito, Giuseppe; Pareyson, Davide; Vazza, Giovanni; Briani, Chiara Journal: Muscle & nerve Issue: Volume 52:Issue 4(2015:Oct.) Page Start: 688 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel Missense Variant in MYL2 Gene Associated With Hypertrophic Cardiomyopathy Showing High Incidence of Restrictive Physiology. (April 2020) Authors: De Bortoli, Marzia; Vio, Riccardo; Basso, Cristina; Calore, Martina; Minervini, Giovanni; Angelini, Annalisa; Melacini, Paola; Vitiello, Libero; Vazza, Giovanni; Thiene, Gaetano; Tosatto, Silvio; Corrado, Domenico; Iliceto, Sabino; Rampazzo, Alessandra; Calore, Chiara Journal: Circulation Issue: Volume 13:Number 4(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Performance of four models for eye color prediction in an Italian population sample. (May 2019) Authors: Salvoro, Cecilia; Faccinetto, Christian; Zucchelli, Luca; Porto, Marika; Marino, Alberto; Occhi, Gianluca; de los Campos, Gustavo; Vazza, Giovanni Journal: Forensic science international Issue: Volume 40(2019) Page Start: 192 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy. (October 2018) Authors: De Bortoli, Marzia; Postma, Alex V.; Poloni, Giulia; Calore, Martina; Minervini, Giovanni; Mazzotti, Elisa; Rigato, Ilaria; Ebert, Micaela; Lorenzon, Alessandra; Vazza, Giovanni; Cipriani, Alberto; Bariani, Riccardo; Perazzolo Marra, Martina; Husser, Daniela; Thiene, Gaetano; Daliento, Luciano; C... Journal: Circulation Issue: Volume 11:Number 10(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗