1. A cross‐sectional, prospective ocular motor study in 72 patients with Niemann‐Pick disease type C. (12th July 2021) Authors: Bremova‐Ertl, Tatiana; Abel, Larry; Walterfang, Mark; Salsano, Ettore; Ardissone, Anna; Malinová, Věra; Kolníková, Miriam; Gascón Bayarri, Jordi; Reza Tavasoli, Ali; Reza Ashrafi, Mahmoud; Amraoui, Yasmina; Mengel, Eugen; Kolb, Stefan A.; Brecht, Andreas; Bardins, Stanislavs; Strupp, Michael Journal: European journal of neurology Issue: Volume 28:Number 9(2021) Page Start: 3040 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. (26th May 2015) Authors: Ardissone, Anna; Piscosquito, Giuseppe; Legati, Andrea; Langella, Tiziana; Lamantea, Eleonora; Garavaglia, Barbara; Salsano, Ettore; Farina, Laura; Moroni, Isabella; Pareyson, Davide; Ghezzi, Daniele Journal: Neurology Issue: Volume 84:Number 21(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I. Issue 11 (24th September 2020) Authors: Alahmad, Ahmad; Nasca, Alessia; Heidler, Juliana; Thompson, Kyle; Oláhová, Monika; Legati, Andrea; Lamantea, Eleonora; Meisterknecht, Jana; Spagnolo, Manuela; He, Langping; Alameer, Seham; Hakami, Fahad; Almehdar, Abeer; Ardissone, Anna; Alston, Charlotte L; McFarland, Robert; Wittig, Ilka; Ghezz... Journal: EMBO molecular medicine Issue: Volume 12:Issue 11(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Childhood onset of acquired neuromyotonia: Association with a ganglioneuroma. Issue 4 (6th February 2015) Authors: Ardissone, Anna; Zorzi, Giovanna; Ciano, Claudia; Moroni, Isabella Journal: Muscle & nerve Issue: Volume 51:Issue 4(2015:Apr.) Page Start: 620 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical, biochemical, and genetic features associated with VARS2‐related mitochondrial disease. Issue 4 (7th February 2018) Authors: Bruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska‐Lightowlers, Zofia M.A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Pe... Journal: Human mutation Issue: Volume 39:Issue 4(2018) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency. Issue 12 (28th September 2016) Authors: Martinez Lyons, Anabel; Ardissone, Anna; Reyes, Aurelio; Robinson, Alan J; Moroni, Isabella; Ghezzi, Daniele; Fernandez-Vizarra, Erika; Zeviani, Massimo Journal: Journal of medical genetics Issue: Volume 53:Issue 12(2016) Page Start: 846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗