1. CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature. (January 2023) Authors: Della Vecchia, Stefania; Lopergolo, Diego; Trovato, Rosanna; Pasquariello, Rosa; Ferrari, Anna Rita; Bartolini, Emanuele Journal: Seizure Issue: Volume 104(2023) Page Start: 32 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cutaneous silent period recordings in demyelinating and axonal polyneuropathies. Issue 9 (September 2015) Authors: Lopergolo, Diego; Isak, Baris; Gabriele, Maria; Onesti, Emanuela; Ceccanti, Marco; Capua, Gelsomina; Fionda, Laura; Biasiotta, Antonella; Di Stefano, Giulia; La Cesa, Silvia; Frasca, Vittorio; Inghilleri, Maurizio Journal: Clinical neurophysiology Issue: Volume 126:Issue 9(2015:Sep.) Page Start: 1780 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Different epilepsy course of a novel AHDC1 mutation in a female monozygotic twin pair. (July 2022) Authors: Salvati, Andrea; Biagioni, Tommaso; Ferrari, Anna Rita; Lopergolo, Diego; Brovedani, Paola; Bartolini, Emanuele Journal: Seizure Issue: Volume 99(2022) Page Start: 127 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. IQSEC2 disorder: A new disease entity or a Rett spectrum continuum?. Issue 3 (9th January 2021) Authors: Lopergolo, Diego; Privitera, Flavia; Castello, Giuseppe; Lo Rizzo, Caterina; Mencarelli, Maria Antonietta; Pinto, Anna Maria; Ariani, Francesca; Currò, Aurora; Lamacchia, Vittoria; Canitano, Roberto; Vaghi, Elisabetta; Ferrarini, Alessandra; Baltodano, Gerardo Mejia; Lederer, Damien; Van Malderge... Journal: Clinical genetics Issue: Volume 99:Issue 3(2021) Page Start: 462 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Low‐level TP53 mutational load antecedes clonal expansion in chronic lymphocytic leukaemia. (20th February 2018) Authors: Pinto, Anna Maria; Papa, Filomena T.; Frullanti, Elisa; Meloni, Ilaria; Tita, Rossella; Caselli, Rossella; Fallerini, Chiara; Lopergolo, Diego; Cetta, Francesco; Mencarelli, Maria Antonietta; Bocchia, Monica; Gozzetti, Alessandro; Renieri, Alessandra Journal: British journal of haematology Issue: Volume 184:Number 4(2019) Page Start: 657 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Natural history of KBG syndrome in a large European cohort. Issue 24 (21st July 2022) Authors: Loberti, Lorenzo; Bruno, Lucia Pia; Granata, Stefania; Doddato, Gabriella; Resciniti, Sara; Fava, Francesca; Carullo, Michele; Rahikkala, Elisa; Jouret, Guillaume; Menke, Leonie A; Lederer, Damien; Vrielynck, Pascal; Ryba, Lukáš; Brunetti-Pierri, Nicola; Lasa-Aranzasti, Amaia; Cueto-González, Ann... Journal: Human molecular genetics Issue: Volume 31:Issue 24(2022) Page Start: 4131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder. Issue 17 (11th April 2022) Authors: Barish, Scott; Senturk, Mumine; Schoch, Kelly; Minogue, Amanda L; Lopergolo, Diego; Fallerini, Chiara; Harland, Jake; Seemann, Jacob H; Stong, Nicholas; Kranz, Peter G; Kansagra, Sujay; Mikati, Mohamad A; Jasien, Joan; El-Dairi, Mays; Galluzzi, Paolo; Ariani, Francesca; Renieri, Alessandra; Mari,... Journal: Human molecular genetics Issue: Volume 31:Issue 17(2022) Page Start: 2934 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗