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Targeted re-sequencing in malformations of cortical development: genotype-phenotype correlations.
Accogli A, Severino M, Riva A, Madia F, Balagura G, Iacomino M, Carlini B, Baldassari S, Giacomini T, Croci C, Pisciotta L, Messana T, Boni A, Russo A, Bilo L, Tonziello R, Coppola A, Filla A, Mecarelli O, Casalone R, Pisani F, Falsaperla R, Marino S, Parisi P, Ferretti A, Elia M, Luchetti A, Milani D, Vanadia F, Silvestri L, Rebessi E, Parente E, Vatti G, Mancardi MM, Nobili L, Capra V, Salpietro V, Striano P, Zara F. Accogli A, et al. Among authors: pisciotta l. Seizure. 2020 Aug;80:145-152. doi: 10.1016/j.seizure.2020.05.023. Epub 2020 Jun 3. Seizure. 2020. PMID: 32570172 Free article.
[Identifying possible homozygous familial hypercholesterolemia patients: an Italian experts' opinion].
Bilato C, Zambon A, Pisciotta L, Citroni N, Carubbi F, Zambon S, Zenti MG, Vinci P, Biolo G, Bonomo K, Egalini F, Passaro A, Nascimbeni F, Negri E, D'Addato S, Averna M, Arca M, Oliva F, Colivicchi F, Catapano A. Bilato C, et al. Among authors: pisciotta l. G Ital Cardiol (Rome). 2023 Jan;24(1):5-10. doi: 10.1714/3934.39174. G Ital Cardiol (Rome). 2023. PMID: 36573504 Italian.
Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.
Giacomini T, Pisciotta L, Prato G, Meola I, Zara F, Fiorillo C, Baratto S, Severino M, De Grandis E, Mancardi MM. Giacomini T, et al. Among authors: pisciotta l. Seizure. 2019 Aug;70:56-58. doi: 10.1016/j.seizure.2019.06.029. Epub 2019 Jun 27. Seizure. 2019. PMID: 31279168 Free article. Review. No abstract available.
Epileptic Encephalopathy, Myoclonus-Dystonia, and Premature Pubarche in Siblings with a Novel C-Terminal Truncating Mutation in ATRX Gene.
Giacomini T, Vari MS, Janis S, Prato G, Pisciotta L, Rocchi A, Michelucci A, Di Rocco M, Gandullia P, Mattioli G, Sacco O, Morana G, Mancardi MM. Giacomini T, et al. Among authors: pisciotta l. Neuropediatrics. 2019 Oct;50(5):327-331. doi: 10.1055/s-0039-1692141. Epub 2019 Jul 18. Neuropediatrics. 2019. PMID: 31319423
151 results