Ph.D. Program in Biomedical Sciences and Oncology

Baldassari S, Licchetta L, Tinuper P, Bisulli F, Pippucci T. GATOR1 complex: the common genetic actor in focal epilepsies. J Med Genet. 2016 May 19. pii: jmedgenet-2016-103883. doi: 10.1136/jmedgenet-2016-103883. [Epub ahead of print] Review. PubMed PMID: 27208208.

Licchetta L, Pippucci T, Bisulli F, Cantalupo G, Magini P, Alvisi L, Baldassari S, Martinelli P, Naldi I, Vanni N, Liguori R, Seri M, Tinuper P. A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype. Epilepsia. 2013 Jul;54(7):1298-306. doi: 10.1111/epi.12216. Epub 2013 May 11. Erratum in Epilepsia. 2013 Sep;54(9):1709.

Bisulli F, Naldi I, Baldassari S, Magini P, Licchetta L, Castegnaro G, Fabbri M, Stipa C, Ferrari, S, Seri M, Goncalves Silva GE, Tinuper P, Pippucci T. Autosomal dominant partial epilepsy with auditory features: Anew locus on chromosome 19q13.11-q13.31. Epilepsia. 2014 Mar 1. doi: 10.1111/epi.12560. PubMed PMID: 24579982

Magini P, Bisulli F, Baldassari S, Stipa C, Naldi I, Licchetta L, Menghi V, Tinuper P, Seri M, Pippucci T. LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). Epilepsy Res. 2014 Mar 26. pii:S0920-1211(14)00079-5. doi: 10.1016/j.eplepsyres.2014.03.005. PubMed PMID: 24721199

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 and Bisulli F. Epilepsy with auditory features: a heterogenous clinico-molecular disease. Neurol Genet June 2015 vol. 1 no. 1 e5 

Ricos MG, Hodgson BL, Pippucci T, Saidin A, Sze Ong Y, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F; Epilepsy Electroclinical Study Group, Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM. Mutations in the mTOR pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann Neurol. 2015 Oct 27.

Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HH, Regan BM, Shearer AE, Smith RJ, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. Ann Clin Transl Neurol. 2015 Aug;2(8):821-30.

Bisulli F, Licchetta L, Baldassari S, Pippucci T, Tinuper P. DEPDC5 mutations in epilepsy with auditory features. Epilepsia. 2016 Feb;57(2):335.

Neri I, Virdi A, Tortora G, Baldassari S, Seri M, Patrizi A. Novel p.Glu519Gln missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis and review of the literature. J Dermatol Sci. 2016 Jan;81(1):63-6.

Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M. Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2. Hum Genet. 2016 Jul 1.

Congresso SIGU, Roma 2013

Autosomal Dominant Partial Epilepsy with Auditory Features: a novel locus maps to chromosome 19q13.11-q13.31

Baldassari S; Bisulli F, MD, PhD; Naldi I, MD; Magini P, PhD; Licchetta L, MD; Castegnaro G, Fabbri M, MD; Stipa C,MD; Ferrari S; Seri M,MD; Gonçalves Silva GE, Tinuper P,MD; Pippucci T, PhD

ESHG Congress, Milan 2014

A novel missense mutation in ST14 in a patient with ichthyosis, follicular atrophoderma and hypotrichosis

Baldassari S., Tortora G., Balestri R., Neri I., Seri M.

Congresso SIGU, Rimini 2015 - Oral Communication

GATOR1 complex mutations are implicated in focal epilepsy pathogenesis

Baldassari S, Licchetta L, Marconi C, Palombo F, Magini P, Seri M, LICE NFLE Study group, Tinuper P, Bisulli F, Pippucci T

ESHG Congress, Barcelona 2016

Mutations of the mTORC1-regulating complex GATOR1 in focal epilepsies

Baldassari S, Licchetta L, Marconi C, Myers CT, Palombo F, Magini P, Mefford HC, Seri M, NFLE Lice Study Group*, Tinuper P, Bisulli F, Pippucci T

- XVI Congresso Nazionale SIGU, Roma, 25 - 28 Settembre 2013

- ESHG Congress, Milan, May 31- June 3 2014

- Congresso SIGU, Bologna, 30-31 Ottobre 2014

- XVIII Congresso SIGU, Rimini, 21-23 Ottobre 2015

- ESHG Congress, Barcelona, May 21 - May 24 2016