1. A neonate with abdominal distension and failure to thrive. Issue 3 (26th April 2016) Authors: Tadiotto, Elisa; Maines, Evelina; Degani, Daniela; Banzato, Claudia; Balter, Rita; Gugelmo, Giorgia; Dardis, Andrea; Giordano, Giuseppe; Bordugo, Andrea Journal: Archives of disease in childhood Issue: Volume 102:Issue 3(2017) Page Start: 166 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Assessment of the functional impact on the pre‐mRNA splicing process of 28 nucleotide variants associated with Pompe disease in GAA exon 2 and their recovery using antisense technology. Issue 11 (29th July 2019) Authors: Goina, Elisa; Musco, Lorena; Dardis, Andrea; Buratti, Emanuele Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: 2121 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cerebrospinal fluid lysosomal enzymes and alpha‐synuclein in Parkinson's disease. Issue 8 (16th January 2014) Authors: Parnetti, Lucilla; Chiasserini, Davide; Persichetti, Emanuele; Eusebi, Paolo; Varghese, Shiji; Qureshi, Mohammad M.; Dardis, Andrea; Deganuto, Marta; De Carlo, Claudia; Castrioto, Anna; Balducci, Chiara; Paciotti, Silvia; Tambasco, Nicola; Bembi, Bruno; Bonanni, Laura; Onofrj, Marco; Rossi, Arold... Journal: Movement disorders Issue: Volume 29:Issue 8(2014) Page Start: 1019 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Cerebrospinal fluid β‐glucocerebrosidase activity is reduced in parkinson's disease patients. Issue 10 (26th August 2017) Authors: Parnetti, Lucilla; Paciotti, Silvia; Eusebi, Paolo; Dardis, Andrea; Zampieri, Stefania; Chiasserini, Davide; Tasegian, Anna; Tambasco, Nicola; Bembi, Bruno; Calabresi, Paolo; Beccari, Tommaso Journal: Movement disorders Issue: Volume 32:Issue 10(2017) Page Start: 1423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical and neurophysiological characteristics of heterozygous NPC1 carriers. Issue 1 (28th June 2019) Authors: Benussi, Alberto; Cotelli, Maria S.; Cantoni, Valentina; Bertasi, Valeria; Turla, Marinella; Dardis, Andrea; Biasizzo, Jessica; Manenti, Rosa; Cotelli, Maria; Padovani, Alessandro; Borroni, Barbara Journal: JIMD reports Issue: Volume 49:Issue 1(2019) Page Start: 80 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Early biochemical effects of velmanase alfa in a 7‐month‐old infant with alpha‐mannosidosis. Issue 1 (10th July 2020) Authors: Santoro, Lucia; Zampini, Lucia; Padella, Lucia; Monachesi, Chiara; Zampieri, Stefania; Dardis, Andrea; Cordiali, Rosanna; Galeazzi, Tiziana; Catassi, Carlo Journal: JIMD reports Issue: Volume 55:Issue 1(2020) Page Start: 15 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. In vitro recapitulation of the site‐specific editing (to wild‐type) of mutant IDS mRNA transcripts, and the characterization of IDS protein translated from the edited mRNAs. Issue 7 (22nd May 2017) Authors: Lualdi, Susanna; Del Zotto, Genny; Zegarra‐Moran, Olga; Pedemonte, Nicoletta; Corsolini, Fabio; Bruschi, Maurizio; Tomati, Valeria; Amico, Giulia; Candiano, Giovanni; Dardis, Andrea; Cooper, David N.; Filocamo, Mirella Journal: Human mutation Issue: Volume 38:Issue 7(2017) Page Start: 849 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Mechanistic convergence and shared therapeutic targets in Niemann‐Pick disease. Issue 3 (5th December 2019) Authors: Colaco, Alexandria; Kaya, Ecem; Adriaenssens, Elias; Davis, Lianne C.; Zampieri, Stefania; Fernández‐Suárez, María E.; Tan, Chong Y.; Deegan, Patrick B.; Porter, Forbes D.; Galione, Antony; Bembi, Bruno; Dardis, Andrea; Platt, Frances M. Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 3(2020) Page Start: 574 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mesomelia‐synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene. Issue 2 (18th November 2018) Authors: Dardis, Andrea; Pianta, Annalisa; Zampieri, Stefania; Zanin, Irene; Bertoli, Marta; Cazzagon, Monica; Bregant, Elisa; Damante, Giuseppe; Bembi, Bruno; Ciana, Giovanni Journal: Clinical genetics Issue: Volume 95:Issue 2(2019) Page Start: 336 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy. Issue 2 (15th November 2017) Authors: Burlina, Alberto B.; Polo, Giulia; Salviati, Leonardo; Duro, Giovanni; Zizzo, Carmela; Dardis, Andrea; Bembi, Bruno; Cazzorla, Chiara; Rubert, Laura; Zordan, Roberta; Desnick, Robert J.; Burlina, Alessandro P. Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 2(2018) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗