1. Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study. (August 2018) Authors: Nickel, Miriam; Simonati, Alessandro; Jacoby, David; Lezius, Susanne; Kilian, Dirk; Van de Graaf, Benjamin; Pagovich, Odelya E; Kosofsky, Barry; Yohay, Kaleb; Downs, Matthew; Slasor, Peter; Ajayi, Temitayo; Crystal, Ronald G; Kohlschütter, Alfried; Sondhi, Dolan; Schulz, Angela Journal: Lancet Issue: Volume 2:Number 8(2018) Page Start: 582 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis. Issue 12 (December 2018) Authors: di Ronza, Alberto; Bajaj, Lakshya; Sharma, Jaiprakash; Sanagasetti, Deepthi; Lotfi, Parisa; Adamski, Carolyn; Collette, John; Palmieri, Michela; Amawi, Abdallah; Popp, Lauren; Chang, Kevin; Meschini, Maria; Leung, Hon-Chiu; Segatori, Laura; Simonati, Alessandro; Sifers, Richard; Santorelli, Filip... Journal: Nature cell biology Issue: Volume 20:Issue 12(2018) Page Start: 1370 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Survey on treatments for primary headaches in 13 specialized juvenile Headache Centers: The first multicenter Italian study. (May 2017) Authors: Toldo, Irene; Rattin, Martina; Perissinotto, Egle; De Carlo, Debora; Bolzonella, Barbara; Nosadini, Margherita; Rossi, Livia Nicoletta; Vecchio, Angelo; Simonati, Alessandro; Carotenuto, Marco; Scalas, Cinzia; Sciruicchio, Vittorio; Raieli, Vincenzo; Mazzotta, Giovanni; Tozzi, Elisabetta; Valeria... Journal: European journal of paediatric neurology Issue: Volume 21:Number 3(2017:May) Page Start: 507 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy. (June 2021) Authors: Darra, Francesca; Lo Barco, Tommaso; Opri, Roberta; Parrini, Elena; Bianchini, Claudia; Fiorini, Elena; Simonati, Alessandro; Dalla Bernardina, Bernardo; Cantalupo, Gaetano; Guerrini, Renzo Journal: Neurology Issue: Volume 7:Number 3(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Neuronal ceroid lipofuscinoses: many players, and more to come. (September 2009) Authors: Simonati, Alessandro; Cannelli, Natalia; Pezzini, Francesco; Aiello, Chiara; Bianchi, Marzia; Tessa, Alessandra; Santorelli, Filippo M Journal: Future neurology Issue: Volume 4:Number 5(2009) Page Start: 601 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Novel mutation of the P0 extracellular domain causes a Déjérine-Sottas syndrome. Issue 3 (1st March 1999) Authors: Fabrizi, Gian Maria; Cavallaro, Tiziana; Morbin, Michela; Simonati, Alessandro; Taioli, Federica; Rizzuto, Nicolo' Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 66:Issue 3(1999) Page Start: 386 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. (November 2016) Authors: Opri, Roberta; Fabrizi, Gian Maria; Cantalupo, Gaetano; Ferrarini, Moreno; Simonati, Alessandro; Dalla Bernardina, Bernardo; Darra, Francesca Journal: Seizure Issue: Volume 42(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Enzymatic diagnosis of neuronal lipofuscinoses in dried blood spots using substrates for concomitant tandem mass spectrometry and fluorimetry. (13th December 2020) Authors: Maeser, Stefan; Petre, Brindusa‐Alina; Ion, Laura; Rawer, Stephan; Kohlschütter, Alfried; Santorelli, Filippo M.; Simonati, Alessandro; Schulz, Angela; Przybylski, Michael Other Names: Giorgi Gianluca guestEditor.; Napoli Anna guestEditor. Journal: Journal of mass spectrometry Issue: Volume 56:Number 1(2021) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Neuropathology of mitochondrial diseases. Issue 1 (13th June 2007) Authors: Filosto, Massimiliano; Tomelleri, Giuliano; Tonin, Paola; Scarpelli, Mauro; Vattemi, Gaetano; Rizzuto, Nicolò; Padovani, Alessandro; Simonati, Alessandro Journal: Bioscience reports Issue: Volume 27:Issue 1/3(2007) Page Start: 23 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review. (November 2016) Authors: Opri, Roberta; Fabrizi, Gian Maria; Cantalupo, Gaetano; Ferrarini, Moreno; Simonati, Alessandro; Dalla Bernardina, Bernardo; Darra, Francesca Journal: Seizure Issue: Volume 42(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗