Stipa, Carlotta; Licchetta, Laura; Farolfi, A; Paccagnella, E; Magini, P; Pippucci, T; Leta, C; Menghi, V; Ferri, L; Mostacci, B; Tinuper, Paolo; Bisulli, Francesca, Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases, «CLINICAL CASES AND REVIEWS IN EPILEPSY», 2016, 1, pp. 173 - 177 [Scientific article]
Panza, Emanuele; Escamilla-Honrubia, Juan M; Marco-Marín, Clara; Gougeard, Nadine; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Németh, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente; Seri, Marco, ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism, «BRAIN», 2016, 139, pp. 1 - 8 [Comment or similar]
Melazzini, Federica; Palombo, Flavia; Balduini, Alessandra; De Rocco, Daniela; Marconi, Caterina; Noris, Patrizia; Gnan, Chiara; Pippucci, Tommaso; Bozzi, Valeria; Faleschini, Michela; Barozzi, Serena; Doubek, Michael; Di Buduo, Christian A; Stano Kozubik, Katerina; Radova, Lenka; Loffredo, Giuseppe; Pospisilova, Sarka; Alfano, Caterina; Seri, Marco; Balduini, Carlo L; Pecci, Alessandro; Savoia, Anna, Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia, «HAEMATOLOGICA», 2016, 101, pp. 1333 - 1342 [Scientific article]Open Access
Bisulli, Francesca; Licchetta, Laura; Baldassari, Sara; Pippucci, Tommaso; Tinuper, Paolo, DEPDC5 mutations in epilepsy with auditory features, «EPILEPSIA», 2016, 57, pp. 335 - 335 [Comment or similar]
Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina, From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks, «HUMAN MUTATION», 2016, 37, pp. 175 - 183 [Scientific article]
Baldassari, Sara; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Pippucci, Tommaso, GATOR1 complex: the common genetic actor in focal epilepsies, «JOURNAL OF MEDICAL GENETICS», 2016, 53, pp. 503 - 510 [Scientific article]
L. Licchetta; T.Pippucci;S. Baldassari; F.Provini; B.Mostacci; I.Naldi; F.Palombo; P. Magini; M. Seri; F. Bisulli; P. Tinuper; LICE NFLE Study Group, Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations, «CLINICAL CASES AND REVIEWS IN EPILEPSY», 2016, 1, pp. 28 - 32 [Scientific article]
Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F.; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas Ewan; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; Leguern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid Eileen; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark; Bahlo, Melanie, Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2, «HUMAN GENETICS», 2016, 135, pp. 1117 - 1125 [Scientific article]
Ricos, Michael G.; Hodgson, Bree L.; Pippucci, Tommaso; Saidin, Akzam; Ong, Yeh Sze; Heron, Sarah E.; Licchetta, Laura; Bisulli, Francesca; Bayly, Marta A.; Hughes, James; Baldassari, Sara; Palombo, Flavia; Santucci, Margherita; Meletti, Stefano; Berkovic, Samuel F.; Rubboli, Guido; Thomas, Paul Q.; Scheffer, Ingrid E.; Tinuper, Paolo; Geoghegan, Joel; Schreiber, Andreas W.; Dibbens, Leanne M., Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy, «ANNALS OF NEUROLOGY», 2016, 79, pp. 120 - 131 [Scientific article]
Magini, Pamela; Palombo, Flavia; Boito, Simona; Lanzoni, Giulia; Mongelli, Patrizia; Rizzuti, Tommaso; Baccarin, Marco; Pippucci, Tommaso; Seri, Marco; Lalatta, Faustina, Prenatal diagnosis of Simpson–Golabi–Behmel syndrome, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2016, 170, pp. 3258 - 3264 [Scientific article]
Harel, Tamar; Yoon, Wan Hee; Garone, Caterina; Shen, Gu; Coban Akdemir, Zeynep; Eldomery, Mohammad K.; Posey, Jennifer E.; Jhangiani, Shalini N.; Rosenfeld, Jill A.; Cho, Megan T.; Fox, Stephanie; Withers, Marjorie; Brooks, Stephanie M.; Chiang, Theodore; Duraine, Lita; Erdin, Serkan; Yuan, Bo; Shao, Yunru; Moussallem, Elie; Lamperti, Costanza; Donati, Maria A.; Smith, Joshua D.; Mclaughlin, Heather M.; Eng, Christine M.; Walkiewicz, Magdalena; Xia, Fan; Pippucci, Tommaso; Magini, Pamela; Seri, Marco; Zeviani, Massimo; Hirano, Michio; Hunter, Jill V.; Srour, Myriam; Zanigni, Stefano; Lewis, Richard Alan; Muzny, Donna M.; Lotze, Timothy E.; Boerwinkle, Eric; Gibbs, Richard A.; Hickey, Scott E.; Graham, Brett H.; Yang, Yaping; Buhas, Daniela; Martin, Donna M.; Potocki, Lorraine; Graziano, Claudio; Bellen, Hugo J.; Lupski, James R., Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes, «AMERICAN JOURNAL OF HUMAN GENETICS», 2016, 99, pp. 831 - 845 [Scientific article]Open Access
Marconi, Caterina; Di Buduo, Christian A.; Barozzi, Serena; Palombo, Flavia; Pardini, Simonetta; Zaninetti, Carlo; Pippucci, Tommaso; Noris, Patrizia; Balduini, Alessandra; Seri, Marco; Pecci, Alessandro, SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia, «THROMBOSIS AND HAEMOSTASIS», 2016, 115, pp. 1076 - 1079 [Comment or similar]
Pippucci, T.; Licchetta, L.; Baldassari, S.; Palombo, F.; Menghi, V.; D'Aurizio, R.; Leta, C.; Stipa, C.; Boero, G.; D'Orsi, G.; Magi, A.; Scheffer, I.; Seri, M.; Tinuper, P.; Bisulli, F., Epilepsy with auditory features: A heterogeneous clinico-molecular disease, «NEUROLOGY. GENETICS», 2015, 1, Article number: e5 , pp. 1 - 8 [Scientific article]Open Access
T. Pippucci;A. Maresca;P. Magini;G. Cenacchi;V. Donadio;F. Palombo;V. Papa;A. Incensi;G. Gasparre;M. L. Valentino;C. Preziuso;A. Pisano;M. Ragno;R. Liguori;C. Giordano;C. Tonon;R. Lodi;A. Parmeggiani;V. Carelli;M. Seri, Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy, «EMBO MOLECULAR MEDICINE», 2015, 7, pp. 848 - 858 [Scientific article]Open Access
Bonora, E; Bianco, F; Cordeddu, L; Bamshad, M; Francescatto, L; Dowless, D; Stanghellini, V; Cogliandro, Rf; Lindberg, G; Mungan, Z; Cefle, K; Ozcelik, T; Palanduz, S; Ozturk, S; Gedikbasi, A; Gori, A; Pippucci, T; Graziano, C; Volta, U; Caio, G; Barbara, G; D'Amato, M; Seri, M; Katsanis, N; Romeo, G; De Giorgio, R., Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction., «GASTROENTEROLOGY», 2015, 148, pp. 771 - 782 [Scientific article]Open Access
