1. 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) ↗
2. 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) ↗
3. Demographics and patient characteristics of 1209 patients with Gaucher disease: Descriptive analysis from the Gaucher Outcome Survey (GOS). Issue 2 (12th December 2017) Authors: Zimran, Ari; Belmatoug, Nadia; Bembi, Bruno; Deegan, Patrick; Elstein, Deborah; Fernandez‐Sasso, Diego; Giraldo, Pilar; Goker‐Alpan, Ozlem; Lau, Heather; Lukina, Elena; Panahloo, Zoya; Schwartz, Ida Vanessa D. Journal: American journal of hematology Issue: Volume 93:Issue 2(2018:Feb.) Page Start: 205 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Eye Movement Impairment Recovery in a Gaucher Patient Treated with Miglustat. (15th September 2010) Authors: Accardo, Agostino; Pensiero, Stefano; Ciana, Giovanni; Parentin, Fulvio; Bembi, Bruno Other Names: Deleu Dirk Academic Editor. Journal: Neurology research international Issue: Volume 2010(2010) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. 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) ↗
7. 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) ↗
8. Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks. Issue 1 (December 2016) Authors: Hollak, Carla; Biegstraaten, Marieke; Baumgartner, Matthias; Belmatoug, Nadia; Bembi, Bruno; Bosch, Annet; Brouwers, Martijn; Dekker, Hanka; Dobbelaere, Dries; Engelen, Marc; Groenendijk, Marike; Lachmann, Robin; Langendonk, Janneke; Langeveld, Mirjam; Linthorst, Gabor; Morava, Eva; Poll-The, Bwe... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative. Issue 5 (13th May 2019) Authors: Mehta, Atul; Kuter, David J.; Salek, Sam S.; Belmatoug, Nadia; Bembi, Bruno; Bright, Jeremy; vom Dahl, Stephan; Deodato, Federica; Di Rocco, Maja; Göker‐Alpan, Ozlem; Hughes, Derralynn A.; Lukina, Elena A.; Machaczka, Maciej; Mengel, Eugen; Nagral, Aabha; Nakamura, Kimitoshi; Narita, Aya; Oliveri... Journal: Internal medicine journal Issue: Volume 49:Issue 5(2019) Page Start: 578 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Results from a 9‐year Intensive Safety Surveillance Scheme (IS3) in miglustat (Zavesca®)‐treated patients. (5th February 2015) Authors: Brand, Monika; Muller, Audrey; Alsop, Jonathan; van Schaik, Ivo N.; Bembi, Bruno; Hughes, Derralynn Journal: Pharmacoepidemiology and drug safety Issue: Volume 24:Number 3(2015:Mar.) Page Start: 329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗