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Hyaline Protoplasmic Astrocytopathy in the Setting of Epilepsy.
Alzoubi H, Nobile G, d'Amati A, Nobili L, Giacomini T, Tortora D, Gaggero G, Gianno F, Giangaspero F, Antonelli M, Consales A. Alzoubi H, et al. Among authors: nobile g. Am J Clin Pathol. 2023 Feb 1;159(2):120-128. doi: 10.1093/ajcp/aqac145. Am J Clin Pathol. 2023. PMID: 36495294 Review.
Comparison of Qualitative and Quantitative Analyses of MR-Arterial Spin Labeling Perfusion Data for the Assessment of Pediatric Patients with Focal Epilepsies.
Tortora D, Cataldi M, Severino M, Consales A, Pacetti M, Parodi C, Sertorio F, Ramaglia A, Cognolato E, Nobile G, Mancardi M, Prato G, Siri L, Giacomini T, Striano P, Arnaldi D, Piatelli G, Rossi A, Nobili L. Tortora D, et al. Among authors: nobile g. Diagnostics (Basel). 2022 Mar 25;12(4):811. doi: 10.3390/diagnostics12040811. Diagnostics (Basel). 2022. PMID: 35453858 Free PMC article.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Riva A, Nobile G, Giacomini T, Ognibene M, Scala M, Balagura G, Madia F, Accogli A, Romano F, Tortora D, Severino M, Scudieri P, Baldassari S, Musante I, Uva P, Salpietro V, Torella A, Nigro V, Capra V, Nobili L, Striano P, Mancardi MM, Zara F, Iacomino M. Riva A, et al. Among authors: nobile g. Front Pediatr. 2022 Apr 29;10:847549. doi: 10.3389/fped.2022.847549. eCollection 2022. Front Pediatr. 2022. PMID: 35573960 Free PMC article.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Scala M, Drouot N, MacLennan SC, Wessels MW, Krygier M, Pavinato L, Telegrafi A, de Man SA, van Slegtenhorst M, Iacomino M, Madia F, Scudieri P, Uva P, Giacomini T, Nobile G, Mancardi MM, Balagura G, Galloni GB, Verrotti A, Umair M, Khan A, Liebelt J, Schmidts M, Langer T, Brusco A, Lipska-Ziętkiewicz BS, Saris JJ, Charlet-Berguerand N, Zara F, Striano P, Piton A. Scala M, et al. Among authors: nobile g. Hum Mutat. 2022 Sep;43(9):1299-1313. doi: 10.1002/humu.24414. Epub 2022 Jun 8. Hum Mutat. 2022. PMID: 35607920 Free PMC article.
55 results