1. A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf–Hirschhorn syndrome. Issue 1 (15th November 2013) Authors: Terrone, Gaetano; Cappuccio, Gerarda; Genesio, Rita; Esposito, Annalisa; Fiorentino, Valeria; Riccitelli, Marina; Nitsch, Lucio; Brunetti‐Pierri, Nicola; Del Giudice, Ennio Journal: American journal of medical genetics Issue: Volume 164:Issue 1(2014.) Page Start: 190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A case of Lennox‐Gastaut syndrome in a patient with FOXG1‐related disorder. Issue 11 (29th September 2014) Authors: Terrone, Gaetano; Bienvenu, Thierry; Germanaud, David; Barthez‐Carpentier, Marie‐Anne; Diebold, Bertrand; Delanoe, Catherine; Passemard, Sandrine; Auvin, Stéphane Journal: Epilepsia Issue: Volume 55:Issue 11(2014:Nov.) Page Start: e116 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome. (July 2020) Authors: Terrone, Gaetano; Marchese, Francesca; Vari, Maria Stella; Severino, Mariasavina; Madia, Francesca; Amadori, Elisabetta; Del Giudice, Ennio; Romano, Alfonso; Gennaro, Elena; Zara, Federico; Striano, Pasquale Journal: Seizure Issue: Volume 79(2020) Page Start: 53 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel SHANK3 interstitial microdeletion in a family with intellectual disability and brain MRI abnormalities resembling Unidentified Bright Objects. (November 2017) Authors: Terrone, Gaetano; Vitiello, Giuseppina; Genesio, Rita; D'Amico, Alessandra; Imperati, Floriana; Ugga, Lorenzo; Giugliano, Teresa; Piluso, Giulio; Nitsch, Lucio; Brunetti-Pierri, Nicola; Del Giudice, Ennio Journal: European journal of paediatric neurology Issue: Volume 21:Number 6(2017:Nov.) Page Start: 902 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A small 7q11.23 microduplication involving GTF2I in a family with intellectual disability. Issue 6 (29th April 2020) Authors: Pinelli, Michele; Terrone, Gaetano; Troglio, Flavia; Squeo, Gabriella Maria; Cappuccio, Gerarda; Imperati, Floriana; Pignataro, Piero; Genesio, Rita; Nitch, Lucio; Del Giudice, Ennio; Merla, Giuseppe; Testa, Giuseppe; Brunetti‐Pierri, Nicola Journal: Clinical genetics Issue: Volume 97:Issue 6(2020) Page Start: 940 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical evolution and epilepsy outcome in three patients with CDKL5‐related developmental encephalopathy. Issue 3 (17th July 2019) Authors: Bernardo, Pia; Ferretti, Alessandro; Terrone, Gaetano; Santoro, Claudia; Bravaccio, Carmela; Striano, Salvatore; Coppola, Antonietta; Striano, Pasquale Journal: Epileptic disorders Issue: Volume 21:Issue 3(2019) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy. Issue 11 (31st January 2022) Authors: Drongitis, Denise; Caterino, Marianna; Verrillo, Lucia; Santonicola, Pamela; Costanzo, Michele; Poeta, Loredana; Attianese, Benedetta; Barra, Adriano; Terrone, Gaetano; Lioi, Maria Brigida; Paladino, Simona; Di Schiavi, Elia; Costa, Valerio; Ruoppolo, Margherita; Miano, Maria Giuseppina Journal: Human molecular genetics Issue: Volume 31:Issue 11(2022) Page Start: 1884 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome. (21st September 2020) Authors: Bar, Claire; Kuchenbuch, Mathieu; Barcia, Giulia; Schneider, Amy; Jennesson, Mélanie; Le Guyader, Gwenaël; Lesca, Gaetan; Mignot, Cyril; Montomoli, Martino; Parrini, Elena; Isnard, Hervé; Rolland, Anne; Keren, Boris; Afenjar, Alexandra; Dorison, Nathalie; Sadleir, Lynette G.; Breuillard, Delphine... Journal: Epilepsia Issue: Volume 61:issue 11(2020) Page Start: 2461 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early onset Charcot‐Marie‐Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2‐related neuropathy. Issue 4 (December 2015) Authors: Tufano, Maria; Cappuccio, Gerarda; Terrone, Gaetano; Manganelli, Fiore; Pisciotta, Chiara; Geroldi, Alessandro; Capponi, Simona; Del Giudice, Ennio Journal: Journal of the peripheral nervous system Issue: Volume 20:Issue 4(2015) Page Start: 415 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Electroencephalographic findings in ATRX syndrome: A new case series and review of literature. (September 2022) Authors: Aiello, Salvatore; Mancardi, Maria Margherita; Romano, Alfonso; Santucci, Margherita; Scaduto, Maria Cristina; Vari, Maria Stella; Striano, Pasquale; Operto, Francesca Felicia; Elia, Maurizio; Vitiello, Giuseppina; Del Giudice, Ennio; Terrone, Gaetano Journal: European journal of paediatric neurology Issue: Volume 40(2022) Page Start: 69 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗