1. A case report with the peculiar concomitance of 2 different genetic syndromes. Issue 49 (December 2016) Authors: Lerario, Alberto; Colombo, Irene; Milani, Donatella; Peverelli, Lorenzo; Villa, Luisa; Del Bo, Roberto; Sciacco, Monica; Comi, Giacomo Pietro; Esposito, Susanna; Moggio, Maurizio Other Names: Clelland. Catherine section editor. Journal: Medicine Issue: Volume 95:Issue 49(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy. (24th November 2015) Authors: Peverelli, Lorenzo; Testolin, Silvia; Villa, Luisa; D'Amico, Adele; Petrini, Stefania; Favero, Chiara; Magri, Francesca; Morandi, Lucia; Mora, Marina; Mongini, Tiziana; Bertini, Enrico; Sciacco, Monica; Comi, Giacomo P.; Moggio, Maurizio Journal: Neurology Issue: Volume 85:Number 21(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment. Issue 5 (17th February 2019) Authors: Catania, Alessia; Legati, Andrea; Peverelli, Lorenzo; Nanetti, Lorenzo; Marchet, Silvia; Zanetti, Nadia; Lamperti, Costanza; Ghezzi, Daniele Journal: American journal of medical genetics Issue: Volume 179:Issue 5(2019) Page Start: 827 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene. Issue 2 (August 2014) Authors: Peverelli, Lorenzo; Gold, Carl A.; Naini, Ali B.; Tanji, Kurenai; Akman, H. Orhan; Hirano, Michio; Dimauro, Salvatore Journal: Muscle & nerve Issue: Volume 50:Issue 2(2014:Aug.) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form. Issue 9 (24th June 2020) Authors: Telese, Roberta; Pagliarani, Serena; Lerario, Alberto; Ciscato, Patrizia; Fagiolari, Gigliola; Cassandrini, Denise; Grimoldi, Nadia; Conte, Giorgio; Cinnante, Claudia; Santorelli, Filippo M.; Comi, Giacomo P.; Sciacco, Monica; Peverelli, Lorenzo Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 9(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. New missense variants of NDUFA11 associated with late‐onset myopathy. Issue 2 (30th May 2019) Authors: Peverelli, Lorenzo; Legati, Andrea; Lamantea, Eleonora; Nasca, Alessia; Lerario, Alberto; Galimberti, Valentina; Ghezzi, Daniele; Lamperti, Costanza Journal: Muscle & nerve Issue: Volume 60:Issue 2(2019) Page Start: E11 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗