1. "Minimal" holoprosencephaly in a 14q deletion syndrome patient. Issue 12 (14th November 2017) Authors: Della Giustina, Elvio; Iodice, Alessandro; Spagnoli, Carlotta; Giovannini, Simona; Frattini, Daniele; Fusco, Carlo; Gobbi, Giuseppe; Zollino, Marcella; Neri, Giovanni Journal: American journal of medical genetics Issue: Volume 173:Issue 12(2017) Page Start: 3216 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset. (March 2015) Authors: Fusco, Carlo; Frattini, Daniele; Panteghini, Celeste; Pascarella, Rosario; Garavaglia, Barbara Journal: Journal of child neurology Issue: Volume 30:Number 3(2015:Mar.) Page Start: 368 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome. Issue 10 (October 2020) Authors: Gargano, Giancarlo; Manfredi, Marco; Pedori, Simona; Di Dio, Francesco; Spagnoli, Carlotta; Frattini, Daniele Journal: Journal of international medical research Issue: Volume 48:Issue 10(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes. (January 2015) Authors: Fusco, Carlo; Frattini, Daniele; Bassi, Maria Teresa Journal: European journal of paediatric neurology Issue: Volume 19:Number 1(2015:Jan.) Page Start: 102 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Beneficial effects of the ketogenic diet on drug‐resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant. Issue 5 (16th November 2021) Authors: Schiavoni, Silvia; Spagnoli, Carlotta; Rizzi, Susanna; Salerno, Grazia Gabriella; Frattini, Daniele; Pisani, Francesco; Fusco, Carlo Journal: Epileptic disorders Issue: Volume 23:Issue 5(2021) Page Start: 739 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review. (11th October 2022) Authors: Rizzi, Susanna; Spagnoli, Carlotta; Frattini, Daniele; Pisani, Francesco; Fusco, Carlo Other Names: Biagini Giuseppe Academic Editor. Journal: Behavioural neurology Issue: Volume 2022(2022) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. CMV-associated axonal sensory-motor Guillain–Barré syndrome in a child: Case report and review of the literature. (January 2016) Authors: Spagnoli, Carlotta; Iodice, Alessandro; Salerno, Grazia Gabriella; Frattini, Daniele; Bertani, Gianna; Pisani, Francesco; Fusco, Carlo Journal: European journal of paediatric neurology Issue: Volume 20:Number 1(2016:Jan.) Page Start: 168 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations. (February 2019) Authors: Spagnoli, Carlotta; Frattini, Daniele; Rizzi, Susanna; Salerno, Grazia Gabriella; Fusco, Carlo Journal: Seizure Issue: Volume 65(2019) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Early-onset Dopamine Transporter Deficiency Syndrome: Long-term Follow-up. (10th March 2021) Authors: Baga, Margherita; Spagnoli, Carlotta; Soliani, Luca; Salerno, Grazia Gabriella; Rizzi, Susanna; Frattini, Daniele; Pisani, Francesco; Fusco, Carlo Journal: Canadian journal of neurological sciences Issue: Volume 48:Number 2(2021) Page Start: 285 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients. Issue 12 (1st October 2013) Authors: Giovannini, Simona; Marangio, Lucia; Fusco, Carlo; Scarano, Angela; Frattini, Daniele; Della Giustina, Elvio; Zollino, Marcella; Neri, Giovanni; Gobbi, Giuseppe Journal: Epilepsia Issue: Volume 54:Issue 12(2013:Dec.) Page Start: 2204 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗