1. A single‐center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. Issue 12 (24th September 2018) Authors: Nardella, Grazia; Visci, Grazia; Guarnieri, Vito; Castellana, Stefano; Biagini, Tommaso; Bisceglia, Luigi; Palumbo, Orazio; Trivisano, Marina; Vaira, Carmela; Scerrati, Massimo; Debrasi, Davide; D'Angelo, Vincenzo; Carella, Massimo; Merla, Giuseppe; Mazza, Tommaso; Castori, Marco; D'Agruma, Leona... Journal: Human mutation Issue: Volume 39:Issue 12(2018) Page Start: 1885 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Genomic and Genetic Disorders Biobank. (20th March 2015) Authors: Fusco, Carmela; Micale, Lucia; Pellico, Maria Teresa; D'Addetta, Ester Valentina; Augello, Bartolomeo; Mandriani, Barbara; De Nittis, Pasquelena; Cocciadiferro, Dario; Malerba, Natascia; Sacco, Michele; Zelante, Leopoldo; Merla, Giuseppe Journal: Open journal of bioresources Issue: Volume 2(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition). Issue 1 (2nd January 2016) Authors: Klionsky, Daniel J; Abdelmohsen, Kotb; Abe, Akihisa; Abedin, Md Joynal; Abeliovich, Hagai; Acevedo Arozena, Abraham; Adachi, Hiroaki; Adams, Christopher M; Adams, Peter D; Adeli, Khosrow; Adhihetty, Peter J; Adler, Sharon G; Agam, Galila; Agarwal, Rajesh; Aghi, Manish K; Agnello, Maria; Agostinis... Journal: Autophagy Issue: Volume 12:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Issue 1 (2nd January 2021) Authors: Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, El... Journal: Autophagy Issue: Volume 17:Issue 1(2021) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants. Issue 6 (25th February 2021) Authors: Fusco, Carmela; Nardella, Grazia; Petracca, Antonio; Ronchi, Dario; Paciello, Nicola; Di Giacomo, Marilena; Gambardella, Stefano; Lanfranconi, Silvia; Zampatti, Stefania; D'Agruma, Leonardo; Micale, Lucia; Castori, Marco Journal: Clinical genetics Issue: Volume 99:Issue 6(2021) Page Start: 829 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients. Issue 7 (9th April 2014) Authors: Micale, Lucia; Augello, Bartolomeo; Maffeo, Claudia; Selicorni, Angelo; Zucchetti, Federica; Fusco, Carmela; De Nittis, Pasquelena; Pellico, Maria Teresa; Mandriani, Barbara; Fischetto, Rita; Boccone, Loredana; Silengo, Margherita; Biamino, Elisa; Perria, Chiara; Sotgiu, Stefano; Serra, Gigliola;... Journal: Human mutation Issue: Volume 35:Issue 7(2014:Jul.) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations. Issue 11 (22nd October 2019) Authors: Fusco, Carmela; Copetti, Massimiliano; Mazza, Tommaso; Amoruso, Luigi; Mastoianno, Sandra; Nardella, Grazia; Guarnieri, Vito; Micale, Lucia; D'Agruma, Leonardo; Castori, Marco Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: e24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations. Issue 11 (22nd October 2019) Authors: Fusco, Carmela; Copetti, Massimiliano; Mazza, Tommaso; Amoruso, Luigi; Mastroianno, Sandra; Nardella, Grazia; Guarnieri, Vito; Micale, Lucia; D'Agruma, Leonardo; Castori, Marco Journal: Human mutation Issue: Volume 40:Issue 11(2019) Page Start: e24 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. (26th February 2019) Authors: Fusco, Carmela; Nardella, Grazia; Fischetto, Rita; Copetti, Massimiliano; Petracca, Antonio; Annunziata, Francesca; Augello, Bartolomeo; D'Asdia, Maria Cecilia; Petrucci, Simona; Mattina, Teresa; Rella, Annalisa; Cassina, Matteo; Bengala, Mario; Biagini, Tommaso; Causio, Francesco Andrea; Caldari... Journal: Human molecular genetics Issue: Volume 28:Number 13(2019) Page Start: 2133 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗