1. A Child With Ichthyosis and Liver Failure. Issue 3 (September 2017) Authors: Indolfi, Giuseppe; Iascone, Maria; Remaschi, Giulia; Donati, Maria A.; Nesti, Claudia; Rubegni, Anna; Pezzoli, Laura; Buccoliero, Anna M.; Santorelli, Filippo M.; Resti, Massimo Journal: Journal of pediatric gastroenterology and nutrition Issue: Volume 65:Issue 3(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?. (12th April 2020) Authors: Gotta, Fabio; Lamp, Merit; Geroldi, Alessandro; Trevisan, Lucia; Origone, Paola; Fugazza, Giuseppina; Fabbri, Sabrina; Nesti, Claudia; Rubegni, Anna; Morani, Federica; Santorelli, Filippo Maria; Bellone, Emilia; Mandich, Paola Journal: Annals of human genetics Issue: Volume 84:Number 5(2020:Sep.) Page Start: 417 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. Electron‐dense lamellated inclusions in 2 siblings with Kufor–Rakeb syndrome. Issue 12 (29th April 2013) Authors: Malandrini, Alessandro; Rubegni, Anna; Battisti, Carla; Berti, Gianna; Federico, Antonio Journal: Movement disorders Issue: Volume 28:Issue 12(2013) Page Start: 1751 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗
7. Expanding the clinical and genetic spectrum of pathogenic variants in STIM1. Issue 5 (26th August 2021) Authors: Ticci, Chiara; Cassandrini, Denise; Rubegni, Anna; Riva, Beatrice; Vattemi, Gaetano; Matà, Sabrina; Ricci, Giulia; Baldacci, Jacopo; Guglielmi, Valeria; Di Muzio, Antonio; Malandrini, Alessandro; Tonin, Paola; Siciliano, Gabriele; Federico, Antonio; Genazzani, Armando A.; Santorelli, Filippo M.; ... Journal: Muscle & nerve Issue: Volume 64:Issue 5(2021) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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) ↗
9. Leigh-like neuroimaging features associated with new biallelic mutations in OPA1. (July 2017) Authors: Rubegni, Anna; Pisano, Tiziana; Bacci, Giacomo; Tessa, Alessandra; Battini, Roberta; Procopio, Elena; Giglio, Sabrina; Pasquariello, Rosa; Santorelli, Filippo Maria; Guerrini, Renzo; Nesti, Claudia Journal: European journal of paediatric neurology Issue: Volume 21:Number 4(2017:Jul.) Page Start: 671 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Issue 4 (25th March 2020) Authors: D'Amore, Angelica; Tessa, Alessandra; Naef, Valentina; Bassi, Maria Teresa; Citterio, Andrea; Romaniello, Romina; Fichi, Gianluca; Galatolo, Daniele; Mero, Serena; Battini, Roberta; Bertocci, Giulia; Baldacci, Jacopo; Sicca, Federico; Gemignani, Federica; Ricca, Ivana; Rubegni, Anna; Hirst, Jenni... Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 4(2020) Page Start: 584 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗