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2004 2
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Did you mean alessandro terracciano (2 results)?
Fragile X syndrome.
Terracciano A, Chiurazzi P, Neri G. Terracciano A, et al. Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):32-7. doi: 10.1002/ajmg.c.30062. Am J Med Genet C Semin Med Genet. 2005. PMID: 16010677 Review.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N. Trivisano M, et al. Among authors: terracciano a. Epilepsia. 2020 Jul;61(7):e71-e78. doi: 10.1111/epi.16582. Epub 2020 Jul 9. Epilepsia. 2020. PMID: 32645220 Free PMC article.
ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L, Bianca S, Garozzo D, Terracciano A, Agolini E, Messina A, Palmigiano A, Esposito F, Barone C, Novelli A, Fiumara A, Jaeken J, Barone R. Sturiale L, et al. Among authors: terracciano a. Glycoconj J. 2019 Dec;36(6):461-472. doi: 10.1007/s10719-019-09890-2. Epub 2019 Sep 16. Glycoconj J. 2019. PMID: 31529350
Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.
Pontrelli G, Cappelletti S, Claps D, Sirleto P, Ciocca L, Petrocchi S, Terracciano A, Serino D, Fusco L, Vigevano F, Specchio N. Pontrelli G, et al. Among authors: terracciano a. Pediatr Neurol. 2014 May;50(5):530-5. doi: 10.1016/j.pediatrneurol.2014.01.022. Epub 2014 Jan 11. Pediatr Neurol. 2014. PMID: 24731847 Review.
Reduced steroidogenesis in patients with PCDH19-female limited epilepsy.
Trivisano M, Lucchi C, Rustichelli C, Terracciano A, Cusmai R, Ubertini GM, Giannone G, Bertini ES, Vigevano F, Gecz J, Biagini G, Specchio N. Trivisano M, et al. Among authors: terracciano a. Epilepsia. 2017 Jun;58(6):e91-e95. doi: 10.1111/epi.13772. Epub 2017 May 4. Epilepsia. 2017. PMID: 28471529
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum.
Contrò G, Micalizzi A, Giangiobbe S, Caraffi SG, Zuntini R, Rosato S, Pollazzon M, Terracciano A, Napoli M, Rizzi S, Salerno GG, Radio FC, Niceta M, Parrini E, Fusco C, Gargano G, Guerrini R, Tartaglia M, Novelli A, Zuffardi O, Garavelli L. Contrò G, et al. Among authors: terracciano a. Genes (Basel). 2021 Aug 5;12(8):1208. doi: 10.3390/genes12081208. Genes (Basel). 2021. PMID: 34440382 Free PMC article.
PCDH19-related epilepsy in two mosaic male patients.
Terracciano A, Trivisano M, Cusmai R, De Palma L, Fusco L, Compagnucci C, Bertini E, Vigevano F, Specchio N. Terracciano A, et al. Epilepsia. 2016 Mar;57(3):e51-5. doi: 10.1111/epi.13295. Epub 2016 Jan 14. Epilepsia. 2016. PMID: 26765483 Free article.
Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study.
Trivisano M, Pietrafusa N, Terracciano A, Marini C, Mei D, Darra F, Accorsi P, Battaglia D, Caffi L, Canevini MP, Cappelletti S, Cesaroni E, de Palma L, Costa P, Cusmai R, Giordano L, Ferrari A, Freri E, Fusco L, Granata T, Martino T, Mastrangelo M, Bova SM, Parmeggiani L, Ragona F, Sicca F, Striano P, Specchio LM, Tondo I, Zambrelli E, Zamponi N, Zanus C, Boniver C, Vecchi M, Avolio C, Dalla Bernardina B, Bertini E, Guerrini R, Vigevano F, Specchio N. Trivisano M, et al. Among authors: terracciano a. Epilepsia. 2018 Dec;59(12):2260-2271. doi: 10.1111/epi.14600. Epub 2018 Nov 19. Epilepsia. 2018. PMID: 30451291
34 results