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IRF2BPL: A new genotype for progressive myoclonus epilepsies.
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, Colavito D, Franceschetti S, Canafoglia L, Berkovic SF, Prontera P. Costa C, et al. Among authors: colavito d. Epilepsia. 2023 Aug;64(8):e164-e169. doi: 10.1111/epi.17557. Epub 2023 Mar 9. Epilepsia. 2023. PMID: 36810721
NFIA haploinsufficiency: case series and literature review.
Dini G, Verrotti A, Gorello P, Soliani L, Cordelli DM, Antona V, Mencarelli A, Colavito D, Prontera P. Dini G, et al. Among authors: colavito d. Front Pediatr. 2023 Oct 17;11:1292654. doi: 10.3389/fped.2023.1292654. eCollection 2023. Front Pediatr. 2023. PMID: 37915986 Free PMC article.
A novel STING variant triggers endothelial toxicity and SAVI disease.
Valeri E, Breggion S, Barzaghi F, Abou Alezz M, Crivicich G, Pagani I, Forneris F, Sartirana C, Costantini M, Costi S, Marino A, Chiarotto E, Colavito D, Cimaz R, Merelli I, Vicenzi E, Aiuti A, Kajaste-Rudnitski A. Valeri E, et al. Among authors: colavito d. J Exp Med. 2024 Sep 2;221(9):e20232167. doi: 10.1084/jem.20232167. Epub 2024 Jul 2. J Exp Med. 2024. PMID: 38953896 Free PMC article.
Multiple melanomas in ichthyosis with confetti: One more piece of evidence.
Aromolo IF, Moltrasio C, Cozzaglio L, Colavito D, Leon A, Cavalli R, Tadini G, Brena M. Aromolo IF, et al. Among authors: colavito d. Australas J Dermatol. 2023 Nov;64(4):576-578. doi: 10.1111/ajd.14143. Epub 2023 Aug 14. Australas J Dermatol. 2023. PMID: 37577813 Free article. No abstract available.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype.
Napolitano F, Dell'Aquila M, Terracciano C, Franzese G, Gentile MT, Piluso G, Santoro C, Colavito D, Patanè A, De Blasiis P, Sampaolo S, Paladino S, Melone MAB. Napolitano F, et al. Among authors: colavito d. Genes (Basel). 2022 Jun 23;13(7):1130. doi: 10.3390/genes13071130. Genes (Basel). 2022. PMID: 35885913 Free PMC article.
A novel homozygous mutation in TBK1 gene causing ALS-FTD.
Libonati L, Ceccanti M, Cambieri C, Colavito D, Moret F, Fiorini I, Inghilleri M. Libonati L, et al. Among authors: colavito d. Neurol Sci. 2022 Mar;43(3):2101-2104. doi: 10.1007/s10072-021-05820-z. Epub 2022 Jan 14. Neurol Sci. 2022. PMID: 35028775 No abstract available.
52 results