1. Bi‐allelic mutations in HARS1 severely impair histidyl‐tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome. Issue 7 (29th April 2020) Authors: Galatolo, Daniele; Kuo, Molly E.; Mullen, Patrick; Meyer‐Schuman, Rebecca; Doccini, Stefano; Battini, Roberta; Lieto, Maria; Tessa, Alessandra; Filla, Alessandro; Francklyn, Christopher; Antonellis, Anthony; Santorelli, Filippo M. Journal: Human mutation Issue: Volume 41:Issue 7(2020) Page Start: 1232 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Bi‐allelic variants in MDH2: Expanding the clinical phenotype. Issue 2 (22nd November 2021) Authors: Ticci, Chiara; Nesti, Claudia; Rubegni, Anna; Doccini, Stefano; Baldacci, Jacopo; Dal Canto, Flavio; Ragni, Luca; Cordelli, Duccio M.; Donati, Maria Alice; Santorelli, Filippo M. Journal: Clinical genetics Issue: Volume 101:Issue 2(2022) Page Start: 260 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cerium oxide nanoparticles: the regenerative redox machine in bioenergetic imbalance. (February 2017) Authors: Pezzini, Ilaria; Marino, Attilio; Turco, Serena Del; Nesti, Claudia; Doccini, Stefano; Cappello, Valentina; Gemmi, Mauro; Parlanti, Paola; Santorelli, Filippo M.; Mattoli, Virgilio; Ciofani, Gianni Journal: Nanomedicine Issue: Volume 12:Number 4(2017) Page Start: 403 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Evaluation of the therapeutic potential of resveratrol-loaded nanostructured lipid carriers on autosomal recessive spastic ataxia of Charlevoix-Saguenay patient-derived fibroblasts. (1st November 2021) Authors: Şen, Özlem; Emanet, Melis; Marino, Attilio; Belenli Gümüş, Melike; Bartolucci, Martina; Doccini, Stefano; Catalano, Federico; Genchi, Giada Graziana; Santorelli, Filippo Maria; Petretto, Andrea; Ciofani, Gianni Journal: Materials & design Issue: Volume 209(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Expanding the clinical and genetic heterogeneity of SPAX5. Issue 4 (1st April 2020) Authors: Dosi, Claudia; Galatolo, Daniele; Rubegni, Anna; Doccini, Stefano; Pasquariello, Rosa; Nesti, Claudia; Sicca, Federico; Barghigiani, Melissa; Battini, Roberta; Tessa, Alessandra; Santorelli, Filippo M. Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 4(2020) Page Start: 595 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. In vitro study of polydopamine nanoparticles as protective antioxidant agents in fibroblasts derived from ARSACS patients. (30th May 2022) Authors: Battaglini, Matteo; Carmignani, Alessio; Martinelli, Chiara; Colica, Jamila; Marino, Attilio; Doccini, Stefano; Mollo, Valentina; Santoro, Francesca; Bartolucci, Martina; Petretto, Andrea; Santorelli, Filippo Maria; Ciofani, Gianni Journal: Biomaterials science Issue: Volume 10:Number 14(2022) Page Start: 3770 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission. Issue 8 (16th June 2021) Authors: Tolomeo, Deborah; Rubegni, Anna; Nesti, Claudia; Barghigiani, Melissa; Battini, Roberta; D'Amore, Francesca; Doccini, Stefano; Donati, Maria Alice; Galatolo, Daniele; Giglio, Sabrina; Guarducci, Silvia; Pantaleo, Marilena; Pasquariello, Rosa; Procopio, Elena; Pochiero, Francesca; Tessa, Alessandr... Journal: Journal of medical genetics Issue: Volume 58:Issue 8(2021) Page Start: 543 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts. Issue 2 (22nd August 2022) Authors: Zanfardino, Paola; Longo, Giovanna; Amati, Alessandro; Morani, Federica; Picardi, Ernesto; Girolamo, Francesco; Pafundi, Mariella; Cox, Sharon N; Manzari, Caterina; Tullo, Apollonia; Doccini, Stefano; Santorelli, Filippo M; Petruzzella, Vittoria Journal: Human molecular genetics Issue: Volume 32:Issue 2(2023) Page Start: 333 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗