1. Genetic engineering of α2, 6-sialyltransferase in recombinant CHO cells. (May 1998) Authors: Jenkins, Nigel; Buckberry, Lorraine; Marc, Annie; Monaco, Lucia Journal: Biochemical Society transactions Issue: Volume 26:Number 2(1998) Page Start: S115 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Identification of murine phosphodiesterase 5A isoforms and their functional characterization in HL‐1 cardiac cell line. Issue 1 (18th May 2017) Authors: Campolo, Federica; Zevini, Alessandra; Cardarelli, Silvia; Monaco, Lucia; Barbagallo, Federica; Pellegrini, Manuela; Cornacchione, Marisa; Di Grazia, Antonio; De Arcangelis, Valeria; Gianfrilli, Daniele; Giorgi, Mauro; Lenzi, Andrea; Isidori, Andrea M.; Naro, Fabio Journal: Journal of cellular physiology Issue: Volume 233:Issue 1(2018:Jan.) Page Start: 325 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Novel Adeno‐Associated Viral Vector Delivering the Utrophin Gene Regulator Jazz Counteracts Dystrophic Pathology in mdx Mice. Issue 9 (September 2014) Authors: Strimpakos, Georgios; Corbi, Nicoletta; Pisani, Cinzia; Di Certo, Maria Grazia; Onori, Annalisa; Luvisetto, Siro; Severini, Cinzia; Gabanella, Francesca; Monaco, Lucia; Mattei, Elisabetta; Passananti, Claudio Journal: Journal of cellular physiology Issue: Volume 229:Issue 9(2014:Sep.) Page Start: 1283 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Overview of existing initiatives to develop and improve access and data sharing in rare disease registries and biobanks worldwide. (2nd July 2016) Authors: López, Estrella; Thompson, Rachel; Gainotti, Sabina; Wang, Chiuhui Mary; Rubinstein, Yaffa; Taruscio, Domenica; Monaco, Lucia; Lochmüller, Hanns; Alonso, Verónica; Posada de la Paz, Manuel Journal: Expert opinion on orphan drugs Issue: Volume 4:Number 7(2016:Jul.) Page Start: 729 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Pathways Implicated in Tadalafil Amelioration of Duchenne Muscular Dystrophy. Issue 1 (28th September 2015) Authors: De Arcangelis, Valeria; Strimpakos, Georgios; Gabanella, Francesca; Corbi, Nicoletta; Luvisetto, Siro; Magrelli, Armando; Onori, Annalisa; Passananti, Claudio; Pisani, Cinzia; Rome, Sophie; Severini, Cinzia; Naro, Fabio; Mattei, Elisabetta; Di Certo, Maria Grazia; Monaco, Lucia Journal: Journal of cellular physiology Issue: Volume 231:Issue 1(2016:Jan.) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Pathways Implicated in Tadalafil Amelioration of Duchenne Muscular Dystrophy. Issue 1 (January 2016) Authors: De Arcangelis, Valeria; Strimpakos, Georgios; Gabanella, Francesca; Corbi, Nicoletta; Luvisetto, Siro; Magrelli, Armando; Onori, Annalisa; Passananti, Claudio; Pisani, Cinzia; Rome, Sophie; Severini, Cinzia; Naro, Fabio; Mattei, Elisabetta; Di Certo, Maria Grazia; Monaco, Lucia Journal: Journal of cellular physiology Issue: Volume 231:Issue 1(2016:Jan.) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Patient‐driven search for rare disease therapies: the Fondazione Telethon success story and the strategy leading to Strimvelis. Issue 3 (1st February 2017) Authors: Monaco, Lucia; Faccio, Lucia Journal: EMBO molecular medicine Issue: Volume 9:Issue 3(2017) Page Start: 289 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanks. Issue 1 (December 2016) Authors: Baldo, Chiara; Casareto, Lorena; Renieri, Alessandra; Merla, Giuseppe; Garavaglia, Barbara; Goldwurm, Stefano; Pegoraro, Elena; Moggio, Maurizio; Mora, Marina; Politano, Luisa; Sangiorgi, Luca; Mazzotti, Raffaella; Viotti, Valeria; Meloni, Ilaria; Pellico, Maria; Barzaghi, Chiara; Wang, Chiuhui; ... 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. The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Issue 6 (20th May 2022) Authors: Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Corvó, Alberto; Fernández‐Callejo, Marcos; Garcia‐Linares, Carles; Hernandez‐Ferrer, Carles; Luengo, Cristina; Martínez, Inés; Papakonstantinou, Anastasios; Picó‐Amador, Daniel; Protasio, Joan; Thompson, Rachel; Tonda, Raul; Bayés, Mònica; Bullic... Other Names: Boycott Kym guestEditor.; Hamosh Ada guestEditor.; Rehm Heidi guestEditor. Journal: Human mutation Issue: Volume 43:Issue 6(2022) Page Start: 717 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗