1. 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) ↗
2. 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) ↗
3. Diagnostic and prognostic value of CSF neurofilaments in a cohort of patients with motor neuron disease: A cross‐sectional study. Issue 8 (20th February 2021) Authors: Gagliardi, Delia; Faravelli, Irene; Meneri, Megi; Saccomanno, Domenica; Govoni, Alessandra; Magri, Francesca; Ricci, Giulia; Siciliano, Gabriele; Pietro Comi, Giacomo; Corti, Stefania Journal: Journal of cellular and molecular medicine Issue: Volume 25:Issue 8(2021) Page Start: 3765 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Molecular analysis of SMARD1 patient-derived cells demonstrates that nonsense-mediated mRNA decay is impaired. Issue 8 (27th January 2022) Authors: Taiana, Michela; Govoni, Alessandra; Salani, Sabrina; Kleinschmidt, Nicole; Galli, Noemi; Saladini, Matteo; Ghezzi, Stefano Bruno; Melzi, Valentina; Bersani, Margherita; Del Bo, Roberto; Muehlemann, Oliver; Bertini, Enrico; Sansone, Valeria; Albamonte, Emilio; Messina, Sonia; Mari, Francesco; Ces... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 93:Issue 8(2022) Page Start: 908 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Nusinersen safety and effects on motor function in adult spinal muscular atrophy type 2 and 3. Issue 11 (11th September 2020) Authors: Maggi, Lorenzo; Bello, Luca; Bonanno, Silvia; Govoni, Alessandra; Caponnetto, Claudia; Passamano, Luigia; Grandis, Marina; Trojsi, Francesca; Cerri, Federica; Ferraro, Manfredi; Bozzoni, Virginia; Caumo, Luca; Piras, Rachele; Tanel, Raffaella; Saccani, Elena; Meneri, Megi; Vacchiano, Veria; Ricci... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 91:Issue 11(2020) Page Start: 1166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Nusinersen treatment and cerebrospinal fluid neurofilaments: An explorative study on Spinal Muscular Atrophy type 3 patients. Issue 5 (7th February 2020) Authors: Faravelli, Irene; Meneri, Megi; Saccomanno, Domenica; Velardo, Daniele; Abati, Elena; Gagliardi, Delia; Parente, Valeria; Petrozzi, Lucia; Ronchi, Dario; Stocchetti, Nino; Calderini, Edoardo; D'Angelo, Grazia; Chidini, Giovanna; Prandi, Edi; Ricci, Giulia; Siciliano, Gabriele; Bresolin, Nereo; Co... Journal: Journal of cellular and molecular medicine Issue: Volume 24:Issue 5(2020) Page Start: 3034 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Safety and efficacy of once-daily risdiplam in type 2 and non-ambulant type 3 spinal muscular atrophy (SUNFISH part 2): a phase 3, double-blind, randomised, placebo-controlled trial. Issue 1 (January 2022) Authors: Mercuri, Eugenio; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Oskoui, Maryam; Saito, Kayoko; Vuillerot, Carole; Baranello, Giovanni; Boespflug-Tanguy, Odile; Goemans, Nathalie; Kirschner, Janbernd; Kostera-Pruszczyk, Anna; Servais, Laurent; Gerber, Marianne; Gorni, Ksenija; Khwaja, ... Journal: Lancet neurology Issue: Volume 21:Issue 1(2022) Page Start: 42 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. Issue 12 (December 2022) Authors: Masson, Riccardo; Mazurkiewicz-Bełdzińska, Maria; Rose, Kristy; Servais, Laurent; Xiong, Hui; Zanoteli, Edmar; Baranello, Giovanni; Bruno, Claudio; Day, John W; Deconinck, Nicolas; Klein, Andrea; Mercuri, Eugenio; Vlodavets, Dmitry; Wang, Yi; Dodman, Angela; El-Khairi, Muna; Gorni, Ksenija; Jaber... Journal: Lancet neurology Issue: Volume 21:Issue 12(2022) Page Start: 1110 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗