1. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. Issue 1 (21st April 2020) Authors: Caporali, Leonardo; Magri, Stefania; Legati, Andrea; Del Dotto, Valentina; Tagliavini, Francesca; Balistreri, Francesca; Nasca, Alessia; La Morgia, Chiara; Carbonelli, Michele; Valentino, Maria L.; Lamantea, Eleonora; Baratta, Silvia; Schöls, Ludger; Schüle, Rebecca; Barboni, Piero; Cascavilla, M... Journal: Annals of neurology Issue: Volume 88:Issue 1(2020) Page Start: 18 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism. (27th January 2020) Authors: Maresca, Alessandra; Del Dotto, Valentina; Capristo, Mariantonietta; Scimonelli, Emanuela; Tagliavini, Francesca; Morandi, Luca; Tropeano, Concetta Valentina; Caporali, Leonardo; Mohamed, Susan; Roberti, Marina; Scandiffio, Letizia; Zaffagnini, Mirko; Rossi, Jacopo; Cappelletti, Martina; Musiani,... Journal: Human molecular genetics Issue: Volume 29:Number 11(2020) Page Start: 1864 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. Issue 2 (7th April 2021) Authors: Charif, Majida; Gueguen, Naïg; Ferré, Marc; Elkarhat, Zouhair; Khiati, Salim; LeMao, Morgane; Chevrollier, Arnaud; Desquiret-Dumas, Valerie; Goudenège, David; Bris, Céline; Kane, Selma; Alban, Jennifer; Chupin, Stéphanie; Wetterwald, Céline; Caporali, Leonardo; Tagliavini, Francesca; LaMorgia, Ch... Journal: Brain communications Issue: Volume 3:Issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Effect of Mechanical Strain on the Collagen VI Pericellular Matrix in Anterior Cruciate Ligament Fibroblasts. Issue 7 (July 2014) Authors: Sardone, Francesca; Traina, Francesco; Tagliavini, Francesca; Pellegrini, Camilla; Merlini, Luciano; Squarzoni, Stefano; Santi, Spartaco; Neri, Simona; Faldini, Cesare; Maraldi, Nadir; Sabatelli, Patrizia Journal: Journal of cellular physiology Issue: Volume 229:Issue 7(2014:Jul.) Page Start: 878 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy. (June 2020) Authors: Charif, Majida; Chevrollier, Arnaud; Gueguen, Naïg; Bris, Céline; Goudenège, David; Desquiret-Dumas, Valérie; Leruez, Stéphanie; Colin, Estelle; Meunier, Audrey; Vignal, Catherine; Smirnov, Vasily; Defoort-Dhellemmes, Sabine; Drumare Bouvet, Isabelle; Goizet, Cyril; Votruba, Marcela; Jurkute, Ner... Journal: Neurology Issue: Volume 6:Number 3(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel mutations in DNA2 associated with myopathy and mtDNA instability. Issue 9 (2nd September 2019) Authors: Ronchi, Dario; Liu, Changwei; Caporali, Leonardo; Piga, Daniela; Li, Hongzhi; Tagliavini, Francesca; Valentino, Maria Lucia; Ferrò, Maria Teresa; Bini, Paola; Zheng, Li; Carelli, Valerio; Shen, Binghui; Comi, Giacomo Pietro Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 9(2019) Page Start: 1893 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. PI‐PLCβ1b affects Akt activation, cyclin E expression, and caspase cleavage, promoting cell survival in pro‐B‐lymphoblastic cells exposed to oxidative stress. Issue 4 (30th December 2014) Authors: Piazzi, Manuela; Blalock, William L.; Bavelloni, Alberto; Faenza, Irene; Raffini, Mirco; Tagliavini, Francesca; Manzoli, Lucia; Cocco, Lucio Journal: FASEB journal Issue: Volume 29:Issue 4(2015) Page Start: 1383 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗