1. A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature. Issue 1 (9th March 2022) Authors: Torraco, Alessandra; Morlino, Silvia; Rizza, Teresa; Di Nottia, Michela; Bottaro, Giorgia; Bisceglia, Luigi; Montanari, Arianna; Cappa, Marco; Castori, Marco; Bertini, Enrico; Carrozzo, Rosalba Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 56 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Biallelic CLPB mutation associated with isolated neutropenia and 3‐MGA‐uria. Issue 5 (12th May 2022) Authors: Rivalta, Beatrice; Torraco, Alessandra; Martinelli, Diego; Luciani, Matteo; Carrozzo, Rosalba; Finocchi, Andrea Journal: Pediatric allergy and immunology Issue: Volume 33:Issue 5(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. 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) ↗
5. Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1. (1st July 2014) Authors: Travaglione, Sara; Loizzo, Stefano; Rizza, Teresa; Del Brocco, Antonella; Ballan, Giulia; Guidotti, Marco; Vona, Rosa; Di Nottia, Michela; Torraco, Alessandra; Carrozzo, Rosalba; Fiorentini, Carla; Fabbri, Alessia Journal: FEBS journal Issue: Volume 281:Number 15(2014) Page Start: 3473 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins. (14th May 2018) Authors: Torraco, Alessandra; Stehling, Oliver; Stümpfig, Claudia; Rösser, Ralf; De Rasmo, Domenico; Fiermonte, Giuseppe; Verrigni, Daniela; Rizza, Teresa; Vozza, Angelo; Di Nottia, Michela; Diodato, Daria; Martinelli, Diego; Piemonte, Fiorella; Dionisi-Vici, Carlo; Bertini, Enrico; Lill, Roland; Carrozzo... Journal: Human molecular genetics Issue: Volume 27:Number 15(2018:Aug. 01) Page Start: 2739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins. (2nd August 2018) Authors: Torraco, Alessandra; Stehling, Oliver; Stümpfig, Claudia; Rösser, Ralf; De Rasmo, Domenico; Fiermonte, Giuseppe; Verrigni, Daniela; Rizza, Teresa; Vozza, Angelo; Di Nottia, Michela; Diodato, Daria; Martinelli, Diego; Piemonte, Fiorella; Dionisi-Vici, Carlo; Bertini, Enrico; Lill, Roland; Carrozzo... Journal: Human molecular genetics Issue: Volume 27:Number 20(2018:Oct. 15) Page Start: 3650 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation. Issue 6 (25th March 2021) Authors: Torraco, Alessandra; Nasca, Alessia; Verrigni, Daniela; Pennisi, Alessandra; Zaki, Maha S.; Olivieri, Giorgia; Assouline, Zahra; Martinelli, Diego; Maroofian, Reza; Rizza, Teresa; Di Nottia, Michela; Invernizzi, Federica; Lamantea, Eleonora; Longo, Daniela; Houlden, Henry; Prokisch, Holger; Rötig... Journal: Human mutation Issue: Volume 42:Issue 6(2021) Page Start: 699 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel TOP3A Variant Associated With Mitochondrial Disease: Expanding the Clinical Spectrum of Topoisomerase III Alpha–Related Diseases. (6th August 2022) Authors: Primiano, Guido; Torraco, Alessandra; Verrigni, Daniela; Sabino, Andrea; Bertini, Enrico; Carrozzo, Rosalba; Silvestri, Gabriella; Servidei, Serenella Journal: Neurology Issue: Volume 8:Number 4(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Response to: Phenotypic heterogeneity of Leigh syndrome due to NDUFA12 variants is multicausal. Issue 1 (9th December 2021) Authors: Torraco, Alessandra; Maroofian, Reza; Rötig, Agnès; Bertini, Enrico; Ghezzi, Daniele; Carrozzo, Rosalba; Diodato, Daria Journal: Human mutation Issue: Volume 43:Issue 1(2022) Page Start: 99 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗