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Page 1
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.
Corbett MA, Kroes T, Veneziano L, Bennett MF, Florian R, Schneider AL, Coppola A, Licchetta L, Franceschetti S, Suppa A, Wenger A, Mei D, Pendziwiat M, Kaya S, Delledonne M, Straussberg R, Xumerle L, Regan B, Crompton D, van Rootselaar AF, Correll A, Catford R, Bisulli F, Chakraborty S, Baldassari S, Tinuper P, Barton K, Carswell S, Smith M, Berardelli A, Carroll R, Gardner A, Friend KL, Blatt I, Iacomino M, Di Bonaventura C, Striano S, Buratti J, Keren B, Nava C, Forlani S, Rudolf G, Hirsch E, Leguern E, Labauge P, Balestrini S, Sander JW, Afawi Z, Helbig I, Ishiura H, Tsuji S, Sisodiya SM, Casari G, Sadleir LG, van Coller R, Tijssen MAJ, Klein KM, van den Maagdenberg AMJM, Zara F, Guerrini R, Berkovic SF, Pippucci T, Canafoglia L, Bahlo M, Striano P, Scheffer IE, Brancati F, Depienne C, Gecz J. Corbett MA, et al. Among authors: baldassari s. Nat Commun. 2019 Oct 29;10(1):4920. doi: 10.1038/s41467-019-12671-y. Nat Commun. 2019. PMID: 31664034 Free PMC article.
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
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. Licchetta L, et al. Among authors: baldassari s. Epilepsia. 2013 Jul;54(7):1298-306. doi: 10.1111/epi.12216. Epub 2013 May 11. Epilepsia. 2013. PMID: 23663087 Free article.
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy.
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. Hildebrand MS, et al. Among authors: baldassari s. Ann Clin Transl Neurol. 2015 Aug;2(8):821-30. doi: 10.1002/acn3.224. Epub 2015 Jul 3. Ann Clin Transl Neurol. 2015. PMID: 26339676 Free PMC article.
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, 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. Ricos MG, et al. Among authors: baldassari s. Ann Neurol. 2016 Jan;79(1):120-31. doi: 10.1002/ana.24547. Epub 2015 Dec 12. Ann Neurol. 2016. PMID: 26505888
DEPDC5 mutations in epilepsy with auditory features.
Bisulli F, Licchetta L, Baldassari S, Pippucci T, Tinuper P. Bisulli F, et al. Among authors: baldassari s. Epilepsia. 2016 Feb;57(2):335. doi: 10.1111/epi.13233. Epilepsia. 2016. PMID: 26849478 Free article. No abstract available.
Epilepsy with auditory features: A heterogeneous clinico-molecular disease.
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. Pippucci T, et al. Among authors: baldassari s. Neurol Genet. 2015 May 14;1(1):e5. doi: 10.1212/NXG.0000000000000005. eCollection 2015 Jun. Neurol Genet. 2015. PMID: 27066544 Free PMC article.
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S, Licchetta L, Tinuper P, Bisulli F, Pippucci T. Baldassari S, et al. J Med Genet. 2016 Aug;53(8):503-10. doi: 10.1136/jmedgenet-2016-103883. Epub 2016 May 19. J Med Genet. 2016. PMID: 27208208 Review.
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
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. Henden L, et al. Among authors: baldassari s. Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1. Hum Genet. 2016. PMID: 27368338
105 results