1. Becoming a young adult with cerebral palsy. (September 2019) Authors: Pizzighello, Silvia; Pellegri, Alda; Vestri, Alec; Sala, Marco; Piccoli, Sara; Flego, Loredana; Martinuzzi, Andrea Journal: Research in developmental disabilities Issue: Volume 92(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. (9th January 2020) Authors: Behne, Robert; Teinert, Julian; Wimmer, Miriam; D'Amore, Angelica; Davies, Alexandra K; Scarrott, Joseph M; Eberhardt, Kathrin; Brechmann, Barbara; Chen, Ivy Pin-Fang; Buttermore, Elizabeth D; Barrett, Lee; Dwyer, Sean; Chen, Teresa; Hirst, Jennifer; Wiesener, Antje; Segal, Devorah; Martinuzzi, A... Journal: Human molecular genetics Issue: Volume 29:Number 2(2020) Page Start: 320 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7. (4th June 2019) Authors: Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P.C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schöls, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria ... Journal: Neurology Issue: Volume 92:Number 23(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Safety and efficacy of interferon γ in friedreich's ataxia. Issue 2 (13th January 2020) Authors: Vavla, Marinela; D'Angelo, Maria Grazia; Arrigoni, Filippo; Toschi, Nicola; Peruzzo, Denis; Gandossini, Sandra; Russo, Annamaria; Diella, Eleonora; Tirelli, Stefania; Salati, Roberto; Scarpazza, Paolo; Luffarelli, Riccardo; Fortuni, Silvia; Rufini, Alessandra; Condò, Ivano; Testi, Roberto; Martin... Journal: Movement disorders Issue: Volume 35:Issue 2(2020) Page Start: 370 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Do we really need to open a classification box on personal factors in ICF?. Issue 13 (18th June 2016) Authors: Leonardi, Matilde; Sykes, Catherine R.; Madden, Richard Cawley; ten Napel, Huib; Hollenweger, Judith; Snyman, Stefanus; Madden, Rosamond Helen; Kraus De Camargo, Olaf; Raggi, Alberto; van Gool, Coen H.; Martinuzzi, Andrea Journal: Disability and rehabilitation Issue: Volume 38:Issue 13(2016) Page Start: 1327 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Deep Brain Stimulation in childhood-onset dystonia due to brain pathology. A long-term study. (March 2022) Authors: Mandarano, Romina; Danieli, Alberto; Petacchi, Elisa; Di Pede, Chiara; Mondani, Massimo; Armellin, Maria Teresa; Facchin, Dina; Martinuzzi, Andrea Journal: European journal of paediatric neurology Issue: Volume 37(2022) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Safety and Efficacy Of Interferon γ in Friedreich's Ataxia. Issue 2 (13th January 2020) Authors: Vavla, Marinela; D'Angelo, Maria Grazia; Arrigoni, Filippo; Toschi, Nicola; Peruzzo, Denis; Gandossini, Sandra; Russo, Annamaria; Diella, Eleonora; Tirelli, Stefania; Salati, Roberto; Scarpazza, Paolo; Luffarelli, Riccardo; Fortuni, Silvia; Rufini, Alessandra; Condò, Ivano; Testi, Roberto; Martin... Journal: Movement disorders Issue: Volume 35:Issue 2(2020) Page Start: 370 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA‐Ataxia Working Group. Issue 4 (17th September 2021) Authors: Harding, Ian H.; Chopra, Sidhant; Arrigoni, Filippo; Boesch, Sylvia; Brunetti, Arturo; Cocozza, Sirio; Corben, Louise A.; Deistung, Andreas; Delatycki, Martin; Diciotti, Stefano; Dogan, Imis; Evangelisti, Stefania; França, Marcondes C.; Göricke, Sophia L.; Georgiou‐Karistianis, Nellie; Gramegna, ... Journal: Annals of neurology Issue: Volume 90:Issue 4(2021) Page Start: 570 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Muscle MRI in McArdle Disease: A European Multicenter Observational Study. (11th October 2022) Authors: Løkken, Nicoline; Revsbech, Karoline Lolk; Jacobsen, Laura Nørager; Martinuzzi, Andrea; Martin, Miguel Ángel; Díaz-Manera, Jordi; Dominguez-Gonzalez, Cristina; Brondani, Giovanni; Musumeci, Olimpia; Granata, Francesca; Stefan, Cristina; Merino-Sanchez, Concepción; Peralta, Claudia Nuñez; Khawajaz... Journal: Neurology Issue: Volume 99:Number 15(2022) Page Start: e1664 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗