1. A de novo C19orf12 heterozygous mutation in a patient with MPAN. (March 2018) Authors: Monfrini, Edoardo; Melzi, Valentina; Buongarzone, Gabriele; Franco, Giulia; Ronchi, Dario; Dilena, Robertino; Scola, Elisa; Vizziello, Paola; Bordoni, Andreina; Bresolin, Nereo; Comi, Giacomo Pietro; Corti, Stefania; Di Fonzo, Alessio Journal: Parkinsonism & related disorders Issue: Volume 48(2018) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia. Issue 4 (2nd February 2021) Authors: Monfrini, Edoardo; Cogiamanian, Filippo; Salani, Sabrina; Straniero, Letizia; Fagiolari, Gigliola; Garbellini, Manuela; Carsana, Emma; Borellini, Linda; Biella, Fabio; Moggio, Maurizio; Bresolin, Nereo; Corti, Stefania; Duga, Stefano; Comi, Giacomo P.; Aureli, Massimo; Di Fonzo, Alessio Journal: Annals of neurology Issue: Volume 89:Issue 4(2021) Page Start: 834 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Adults with spinal muscular atrophy: a large-scale natural history study shows gender effect on disease. Issue 12 (11th October 2022) Authors: Maggi, Lorenzo; Bello, Luca; Bonanno, Silvia; Govoni, Alessandra; Caponnetto, Claudia; Passamano, Luigia; Grandis, Marina; Trojsi, Francesca; Cerri, Federica; Gardani, Alice; Ferraro, Manfredi; Gadaleta, Giulio; Zangaro, Vittoria; Caumo, Luca; Maioli, Mariantonietta; Tanel, Raffaella; Saccani, El... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 12(2022) Page Start: 1253 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Advances in spinal muscular atrophy therapeutics. (2nd February 2018) Authors: Parente, Valeria; Corti, Stefania Journal: Therapeutic advances in neurological disorders Issue: Volume 11(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Analysis of HTT CAG repeat expansion in Italian patients with amyotrophic lateral sclerosis. Issue 11 (25th October 2022) Authors: Manini, Arianna; Gagliardi, Delia; Meneri, Megi; Antognozzi, Sara; Del Bo, Roberto; Scaglione, Cesa; Comi, Giacomo Pietro; Corti, Stefania; Ronchi, Dario Journal: Annals of clinical and translational neurology Issue: Volume 9:Issue 11(2022) Page Start: 1820 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Bridging the Gap: Gene Therapy in a Patient With Spinal Muscular Atrophy Type 1. (22nd November 2022) Authors: Costamagna, Gianluca; Govoni, Alessandra; Wise, Adina; Corti, Stefania Journal: Neurology Issue: Volume 99:Number 21(2022) Page Start: 952 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations. Issue 5 (4th May 2021) Authors: Abati, Elena; Magri, Stefania; Meneri, Megi; Manenti, Giulia; Velardo, Daniele; Balistreri, Francesca; Pisciotta, Chiara; Saveri, Paola; Bresolin, Nereo; Comi, Giacomo Pietro; Ronchi, Dario; Pareyson, Davide; Taroni, Franco; Corti, Stefania Journal: Annals of clinical and translational neurology Issue: Volume 8:Issue 5(2021) Page Start: 1158 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. (9th January 2015) Authors: Ronchi, Dario; Riboldi, Giulietta; Del Bo, Roberto; Ticozzi, Nicola; Scarlato, Marina; Galimberti, Daniela; Corti, Stefania; Silani, Vincenzo; Bresolin, Nereo; Comi, Giacomo Pietro Journal: Brain Issue: Volume 138:Part 8(2015:Aug.) Page Start: e372 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1. Issue 9 (20th June 2015) Authors: Vanoli, Fiammetta; Rinchetti, Paola; Porro, Francesca; Parente, Valeria; Corti, Stefania Journal: Journal of cellular and molecular medicine Issue: Volume 19:Issue 9(2015) Page Start: 2058 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1. Issue 9 (20th June 2015) Authors: Vanoli, Fiammetta; Rinchetti, Paola; Porro, Francesca; Parente, Valeria; Corti, Stefania Journal: Journal of cellular and molecular medicine Issue: Volume 19:Issue 9(2015) Page Start: 2058 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗