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SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome.
Fiorentini E, Giunti L, Di Rita A, Peraio S, Fonte C, Caporalini C, Buccoliero AM, Censullo ML, Gori G, Noris A, Pasquariello R, Battini R, Pavone R, Giordano F, Giglio S, Rinaldi B. Fiorentini E, et al. Among authors: buccoliero am. Eur J Med Genet. 2023 Jul;66(7):104784. doi: 10.1016/j.ejmg.2023.104784. Epub 2023 May 8. Eur J Med Genet. 2023. PMID: 37164167 Free article.
Childhood-onset Erdheim-Chester disease in the molecular era: clinical phenotypes and long-term outcomes of 21 patients.
Pegoraro F, Mazzariol M, Trambusti I, Bakhshi S, Mallick S, Dunkel IJ, van den Bos C, Tezol Ö, Shan S, Ocak S, Giordano F, De Fusco C, Gaspari S, Buccoliero AM, Coniglio ML, Buti E, Romagnani P, Picarsic J, Donadieu J, Diamond EL, Emile JF, Sieni E, Haroche J, Vaglio A. Pegoraro F, et al. Among authors: buccoliero am. Blood. 2023 Sep 28;142(13):1167-1171. doi: 10.1182/blood.2023020569. Blood. 2023. PMID: 37490651
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene.
Barba C, Blumcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, Bien CG, Heřmanovská B, Porter BE, Lidov HGW, Cetica V, Woermann FG, Lopez-Rivera JA, Canoll PD, Mader I, D'Incerti L, Baldassari S, Yang E, Gaballa A, Vogel H, Straka B, Macconi L, Polster T, Grant GA, Krsková L, Shin HJ, Ko A, Crino PB, Krsek P, Lee JH, Lal D, Baulac S, Poduri A, Guerrini R; SLC35A2 Study Group. Barba C, et al. Neurology. 2023 Jan 31;100(5):e528-e542. doi: 10.1212/WNL.0000000000201471. Epub 2022 Oct 28. Neurology. 2023. PMID: 36307217 Free PMC article.
Case report: complete long-lasting response to multimodal third line treatment with neurosurgical resection, carmustine wafer implantation and dabrafenib plus trametinib in a BRAFV600E mutated high-grade glioma.
Castelli B, Tellini M, Guidi M, Di Nicola M, Giunti L, Buccoliero AM, Censullo ML, Iacono A, Desideri I, Genitori L, Sardi I, Fonte C. Castelli B, et al. Among authors: buccoliero am. Front Oncol. 2024 May 7;14:1359093. doi: 10.3389/fonc.2024.1359093. eCollection 2024. Front Oncol. 2024. PMID: 38774414 Free PMC article.
188 results