1. A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy. Issue 12 (27th October 2017) Authors: Legati, Andrea; Reyes, Aurelio; Ceccatelli Berti, Camilla; Stehling, Oliver; Marchet, Silvia; Lamperti, Costanza; Ferrari, Alberto; Robinson, Alan J; Mühlenhoff, Ulrich; Lill, Roland; Zeviani, Massimo; Goffrini, Paola; Ghezzi, Daniele Journal: Journal of medical genetics Issue: Volume 54:Issue 12(2017) Page Start: 815 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. Issue 9 (11th July 2016) Authors: Nasca, Alessia; Legati, Andrea; Baruffini, Enrico; Nolli, Cecilia; Moroni, Isabella; Ardissone, Anna; Goffrini, Paola; Ghezzi, Daniele Journal: Human mutation Issue: Volume 37:Issue 9(2016) Page Start: 898 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Issue 6 (11th May 2021) Authors: Cappuccio, Gerarda; Ceccatelli Berti, Camilla; Baruffini, Enrico; Sullivan, Jennifer; Shashi, Vandana; Jewett, Tamison; Stamper, Tara; Maitz, Silvia; Canonico, Francesco; Revah‐Politi, Anya; Kupchik, Gabriel S.; Anyane‐Yeboa, Kwame; Aggarwal, Vimla; Benneche, Andreas; Bratland, Eirik; Berland, Si... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. Issue 2 (28th January 2019) Authors: Sharkia, Rajech; Wierenga, Klaas J.; Kessel, Amit; Azem, Abdussalam; Bertini, Enrico; Carrozzo, Rosalba; Torraco, Alessandra; Goffrini, Paola; Ceccatelli Berti, Camilla; McCormick, M. Eileen; Plecko, Barbara; Klein, Andrea; Abela, Lucia; Hengel, Holger; Schöls, Ludger; Shalev, Stavit; Khayat, Mor... Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 2(2019) Page Start: 264 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy. Issue 5 (9th March 2019) Authors: Verrigni, Daniela; Di Nottia, Michela; Ardissone, Anna; Baruffini, Enrico; Nasca, Alessia; Legati, Andrea; Bellacchio, Emanuele; Fagiolari, Gigliola; Martinelli, Diego; Fusco, Lucia; Battaglia, Domenica; Trani, Giulia; Versienti, Gianmarco; Marchet, Silvia; Torraco, Alessandra; Rizza, Teresa; Ver... Journal: Human mutation Issue: Volume 40:Issue 5(2019) Page Start: 601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration. Issue 3 (23rd December 2015) Authors: Brunetti, Dario; Torsvik, Janniche; Dallabona, Cristina; Teixeira, Pedro; Sztromwasser, Pawel; Fernandez‐Vizarra, Erika; Cerutti, Raffaele; Reyes, Aurelio; Preziuso, Carmela; D'Amati, Giulia; Baruffini, Enrico; Goffrini, Paola; Viscomi, Carlo; Ferrero, Ileana; Boman, Helge; Telstad, Wenche; Johan... Journal: EMBO molecular medicine Issue: Volume 8:Issue 3(2016) Page Start: 176 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations. (24th November 2020) Authors: Aleo, Serena J; Del Dotto, Valentina; Fogazza, Mario; Maresca, Alessandra; Lodi, Tiziana; Goffrini, Paola; Ghelli, Anna; Rugolo, Michela; Carelli, Valerio; Baruffini, Enrico; Zanna, Claudia Journal: Human molecular genetics Issue: Volume 29:Number 22(2020) Page Start: 3631 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Extension of Chronological Lifespan by Hexokinase Mutation in Kluyveromyces lactis Involves Increased Level of the Mitochondrial Chaperonin Hsp60. (17th May 2012) Authors: Rizzetto, Lisa; Zanni, Elena; Uccelletti, Daniela; Ferrero, Ileana; Goffrini, Paola Other Names: Trougakos Ioannis Academic Editor. Journal: Journal of aging research Issue: Volume 2012(2012) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations. (April 2021) Authors: Stellingwerff, Menno D.; Figuccia, Sonia; Bellacchio, Emanuele; Alvarez, Karin; Castiglioni, Claudia; Topaloglu, Pinar; Stutterd, Chloe A.; Erasmus, Corrie E.; Sanchez‐Valle, Amarilis; Lebon, Sebastien; Hughes, Sarah; Schmitt-Mechelke, Thomas; Vasco, Gessica; Chow, Gabriel; Rahikkala, Elisa; Dall... Journal: Neurology Issue: Volume 7:Number 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. (22nd August 2019) Authors: Oláhová, Monika; Berti, Camilla Ceccatelli; Collier, Jack J; Alston, Charlotte L; Jameson, Elisabeth; Jones, Simon A; Edwards, Noel; He, Langping; Chinnery, Patrick F; Horvath, Rita; Goffrini, Paola; Taylor, Robert W; Sayer, John A Journal: Human molecular genetics Issue: Volume 28:Number 22(2019) Page Start: 3766 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗