1. A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories. Issue 6 (4th April 2014) Authors: Akimoto, Chizuru; Volk, Alexander E; van Blitterswijk, Marka; Van den Broeck, Marleen; Leblond, Claire S; Lumbroso, Serge; Camu, William; Neitzel, Birgit; Onodera, Osamu; van Rheenen, Wouter; Pinto, Susana; Weber, Markus; Smith, Bradley; Proven, Melanie; Talbot, Kevin; Keagle, Pamela; Chesi, Ales... Journal: Journal of medical genetics Issue: Volume 51:Issue 6(2014) Page Start: 419 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation. (18th November 2021) Authors: Licata, Nausicaa V; Cristofani, Riccardo; Salomonsson, Sally; Wilson, Katherine M; Kempthorne, Liam; Vaizoglu, Deniz; D'Agostino, Vito G; Pollini, Daniele; Loffredo, Rosa; Pancher, Michael; Adami, Valentina; Bellosta, Paola; Ratti, Antonia; Viero, Gabriella; Quattrone, Alessandro; Isaacs, Adrian ... Journal: EMBO journal Issue: Volume 41:Number 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Cerebrospinal fluid phosphorylated neurofilament heavy chain and chitotriosidase in primary lateral sclerosis. Issue 2 (27th August 2020) Authors: Verde, Federico; Zaina, Gloria; Bodio, Caterina; Borghi, Maria Orietta; Soranna, Davide; Peverelli, Silvia; Ticozzi, Nicola; Morelli, Claudia; Doretti, Alberto; Messina, Stefano; Maderna, Luca; Colombrita, Claudia; Gumina, Valentina; Tiloca, Cinzia; Meroni, Pier Luigi; Zambon, Antonella; Ratti, A... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 92:Issue 2(2021) Page Start: 221 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases. Issue 5 (3rd July 2018) Authors: Corrado, Lucia; Tiloca, Cinzia; Locci, Clarissa; Bagarotti, Alessandra; Hamzeiy, Hamid; Colombrita, Claudia; De marchi, Fabiola; Barizzone, Nadia; Cotella, Diego; Ticozzi, Nicola; Mazzini, Letizia; Nazli Basak, AYSE; Ratti, Antonia; Silani, Vincenzo; D'alfonso, Sandra Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 19:Issue 5/6(2018) Page Start: 426 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Cognitive-behavioral longitudinal assessment in ALS: the Italian Edinburgh Cognitive and Behavioral ALS screen (ECAS). Issue 5 (3rd July 2018) Authors: Poletti, Barbara; Solca, Federica; Carelli, Laura; Faini, Andrea; Madotto, Fabiana; Lafronza, Annalisa; Monti, Alessia; Zago, Stefano; Ciammola, Andrea; Ratti, Antonia; Ticozzi, Nicola; Abrahams, Sharon; Silani, Vincenzo Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 19:Issue 5/6(2018) Page Start: 387 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity. Issue 7 (2nd October 2022) Authors: Kacem, Imen; Sghaier, Ikram; Ticozzi, Nicola; Mrabet, Saloua; Paverelli, Silvia; Nasri, Amina; Ratti, Antonia; Ben Djebara, Mouna; Gargouri-Berrachid, Amina; Silani, Vincenzo; Gouider, Riadh Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 23:Issue 7/8(2022) Page Start: 623 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Focus on the heterogeneity of amyotrophic lateral sclerosis. Issue 7 (1st October 2020) Authors: Bendotti, Caterina; Bonetto, Valentina; Pupillo, Elisabetta; Logroscino, Giancarlo; Al-Chalabi, Ammar; Lunetta, Christian; Riva, Nilo; Mora, Gabriela; Lauria, Giuseppe; Weishaupt, Jochen H.; Agosta, Federica; Malaspina, Andrea; Basso, Manuela; Greensmith, Linda; Van Den Bosch, Ludo; Ratti, Antoni... Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 21:Issue 7/8(2020) Page Start: 485 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes. Issue 3 (3rd April 2022) Authors: Ratti, Antonia; Peverelli, Silvia; D'Adda, Elisabetta; Colombrita, Claudia; Gennuso, Michele; Prelle, Alessandro; Silani, Vincenzo Journal: Amyotrophic lateral sclerosis and frontotemporal degeneration Issue: Volume 23:Issue 3/4(2022) Page Start: 292 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Mutations of FUS gene in sporadic amyotrophic lateral sclerosis. Issue 3 (26th October 2009) Authors: Corrado, Lucia; Del Bo, Roberto; Castellotti, Barbara; Ratti, Antonia; Cereda, Cristina; Penco, Silvana; Sorarù, Gianni; Carlomagno, Yari; Ghezzi, Serena; Pensato, Viviana; Colombrita, Claudia; Gagliardi, Stella; Cozzi, Lorena; Orsetti, Valeria; Mancuso, Michelangelo; Siciliano, Gabriele; Mazzini... Journal: Journal of medical genetics Issue: Volume 47:Issue 3(2010) Page Start: 190 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Phosphorylated neurofilament heavy chain: A biomarker of survival for C9ORF72‐associated amyotrophic lateral sclerosis. Issue 1 (25th July 2017) Authors: Gendron, Tania F.; Daughrity, Lillian M.; Heckman, Michael G.; Diehl, Nancy N.; Wuu, Joanne; Miller, Timothy M.; Pastor, Pau; Trojanowski, John Q.; Grossman, Murray; Berry, James D.; Hu, William T.; Ratti, Antonia; Benatar, Michael; Silani, Vincenzo; Glass, Jonathan D.; Floeter, Mary Kay; Jeromin... Journal: Annals of neurology Issue: Volume 82:Issue 1(2017) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗