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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 2
2007 1
2008 3
2009 3
2010 4
2011 1
2012 2
2013 3
2014 2
2015 2
2016 2
2017 2
2018 3
2019 2
2020 6
2021 6
2022 1
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43 results
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Page 1
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 Jan 14. doi: 10.1007/s10072-021-05820-z. Online ahead of print. Neurol Sci. 2022. PMID: 35028775 No abstract available.
PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum.
Johannesen KM, Gardella E, Gjerulfsen CE, Bayat A, Rouhl RPW, Reijnders M, Whalen S, Keren B, Buratti J, Courtin T, Wierenga KJ, Isidor B, Piton A, Faivre L, Garde A, Moutton S, Tran-Mau-Them F, Denommé-Pichon AS, Coubes C, Larson A, Esser MJ, Appendino JP, Al-Hertani W, Gamboni B, Mampel A, Mayorga L, Orsini A, Bonuccelli A, Suppiej A, Van-Gils J, Vogt J, Damioli S, Giordano L, Moortgat S, Wirrell E, Hicks S, Kini U, Noble N, Stewart H, Asakar S, Cohen JS, Naidu SR, Collier A, Brilstra EH, Li MH, Brew C, Bigoni S, Ognibene D, Ballardini E, Ruivenkamp C, Faggioli R, Afenjar A, Rodriguez D, Bick D, Segal D, Coman D, Gunning B, Devinsky O, Demmer LA, Grebe T, Pruna D, Cursio I, Greenhalgh L, Graziano C, Singh RR, Cantalupo G, Willems M, Yoganathan S, Góes F, Leventer RJ, Colavito D, Olivotto S, Scelsa B, Andrade AV, Ratke K, Tokarz F, Khan AS, Ormieres C, Benko W, Keough K, Keros S, Hussain S, Franques A, Varsalone F, Grønborg S, Mignot C, Heron D, Nava C, Isapof A, Borlot F, Whitney R, Ronan A, Foulds N, Somorai M, Brandsema J, Helbig KL, Helbig I, Ortiz-González XR, Dubbs H, Vitobello A, Anderson M, Spadafore D, Hunt D, Møller RS, Rubboli G; PURA study group. Johannesen KM, et al. Among authors: colavito d. Neurol Genet. 2021 Nov 15;7(6):e613. doi: 10.1212/NXG.0000000000000613. eCollection 2021 Dec. Neurol Genet. 2021. PMID: 34790866 Free PMC article.
Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome.
Marzollo A, Colavito D, Sartori S, Fanelli GN, Putti MC. Marzollo A, et al. Among authors: colavito d. J Clin Immunol. 2018 May;38(4):475-477. doi: 10.1007/s10875-018-0516-9. Epub 2018 May 30. J Clin Immunol. 2018. PMID: 29846842 No abstract available.
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease.
Cananzi M, Wohler E, Marzollo A, Colavito D, You J, Jing H, Bresolin S, Gaio P, Martin R, Mescoli C, Bade S, Posey JE, Dalle Carbonare M, Tung W, Jhangiani SN, Bosa L, Zhang Y, Filho JS, Gabelli M, Kellermayer R, Kader HA, Oliva-Hemker M, Perilongo G, Lupski JR, Biffi A, Valle D, Leon A, de Macena Sobreira NL, Su HC, Guerrerio AL. Cananzi M, et al. Among authors: colavito d. Hum Genet. 2021 Sep;140(9):1299-1312. doi: 10.1007/s00439-021-02300-4. Epub 2021 Jun 29. Hum Genet. 2021. PMID: 34185153 Clinical Trial.
A Case of Constipation That Passed From Father to Son.
Cananzi M, Colavito D, Giorgi B. Cananzi M, et al. Among authors: colavito d. Gastroenterology. 2018 Nov;155(5):1317-1318. doi: 10.1053/j.gastro.2018.04.005. Epub 2018 Apr 11. Gastroenterology. 2018. PMID: 29653149 No abstract available.
43 results