1. 5'UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia. Issue 1 (December 2017) Authors: Marconi, Caterina; Canobbio, Ilaria; Bozzi, Valeria; Pippucci, Tommaso; Simonetti, Giorgia; Melazzini, Federica; Angori, Silvia; Martinelli, Giovanni; Saglio, Giuseppe; Torti, Mauro; Pastan, Ira; Seri, Marco; Pecci, Alessandro Journal: Journal of hematology & oncology Issue: Volume 10:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene. (3rd May 2017) Authors: Noris, Patrizia; Marconi, Caterina; De Rocco, Daniela; Melazzini, Federica; Pippucci, Tommaso; Loffredo, Giuseppe; Giangregorio, Tania; Pecci, Alessandro; Seri, Marco; Savoia, Anna Journal: British journal of haematology Issue: Volume 181:Number 5(2018) Page Start: 698 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism. Issue 10 (7th August 2019) Authors: Diquigiovanni, Chiara; Bergamini, Christian; Diaz, Rebeca; Liparulo, Irene; Bianco, Francesca; Masin, Luca; Baldassarro, Vito Antonio; Rizzardi, Nicola; Tranchina, Antonia; Buscherini, Francesco; Wischmeijer, Anita; Pippucci, Tommaso; Scarano, Emanuela; Cordelli, Duccio Maria; Fato, Romana; Seri,... Journal: FASEB journal Issue: Volume 33:Issue 10(2019) Page Start: 11284 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. Issue 7 (11th May 2013) Authors: Licchetta, Laura; Pippucci, Tommaso; Bisulli, Francesca; Cantalupo, Gaetano; Magini, Pamela; Alvisi, Lara; Baldassari, Sara; Martinelli, Paolo; Naldi, Ilaria; Vanni, Nicola; Liguori, Rocco; Seri, Marco; Tinuper, Paolo Journal: Epilepsia Issue: Volume 54:Issue 7(2013:Jul.) Page Start: 1298 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation. (December 2017) Authors: Ferri, Lorenzo; Bisulli, Francesca; Mai, Roberto; Licchetta, Laura; Leta, Chiara; Nobili, Lino; Mostacci, Barbara; Pippucci, Tommaso; Tinuper, Paolo Journal: Seizure Issue: Volume 53(2017) Page Start: 51 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. (23rd October 2018) Authors: Faleschini, Michela; Melazzini, Federica; Marconi, Caterina; Giangregorio, Tania; Pippucci, Tommaso; Cigalini, Elena; Pecci, Alessandro; Bottega, Roberta; Ramenghi, Ugo; Siitonen, Timo; Seri, Marco; Pastore, Annalisa; Savoia, Anna; Noris, Patrizia Journal: British journal of haematology Issue: Volume 183:Number 2(2018) Page Start: 276 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Advances in genetic testing and optimization of clinical management in children and adults with epilepsy. (3rd March 2020) Authors: Scala, Marcello; Bianchi, Amedeo; Bisulli, Francesca; Coppola, Antonietta; Elia, Maurizio; Trivisano, Marina; Pruna, Dario; Pippucci, Tommaso; Canafoglia, Laura; Lattanzi, Simona; Franceschetti, Silvana; Nobile, Carlo; Gambardella, Antonio; Michelucci, Roberto; Zara, Federico; Striano, Pasquale Journal: Expert review of neurotherapeutics Issue: Volume 20:Number 3(2020) Page Start: 251 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11–q13.31. Issue 6 (1st March 2014) Authors: Bisulli, Francesca; Naldi, Ilaria; Baldassari, Sara; Magini, Pamela; Licchetta, Laura; Castegnaro, Giovanni; Fabbri, Margherita; Stipa, Carlotta; Ferrari, Simona; Seri, Marco; Gonçalves Silva, Gilson Edmar; Tinuper, Paolo; Pippucci, Tommaso Journal: Epilepsia Issue: Volume 55:Issue 6(2014:Jun.) Page Start: 841 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts. Issue 11 (17th August 2018) Authors: Milev, Miroslav P; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F E; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovann... Journal: Journal of medical genetics Issue: Volume 55:Issue 11(2018) Page Start: 753 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies. Issue 3 (25th February 2019) Authors: Pippucci, Tommaso; Licchetta, Laura; Baldassari, Sara; Marconi, Caterina; De Luise, Monica; Myers, Candace; Nardi, Elena; Provini, Federica; Cameli, Cinzia; Minardi, Raffaella; Bacchelli, Elena; Giordano, Lucio; Crichiutti, Giovanni; d'Orsi, Giuseppe; Seri, Marco; Gasparre, Giuseppe; Mefford, Hea... Other Names: Bianchi Amedeo investigator.; Striano Pasquale investigator.; Gambardella Antonio investigator.; Meletti Stefano investigator.; Dilena Roberto investigator.; Santucci Margherita investigator.; Marini Carla investigator.; Vignoli Aglaia investigator.; Gobbi Giuseppe investigator.; Briatore Eleonor... Journal: Annals of clinical and translational neurology Issue: Volume 6:Issue 3(2019) Page Start: 475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗