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

Year Number of Results
2008 2
2009 2
2010 6
2011 10
2012 10
2013 13
2014 7
2015 7
2016 7
2017 4
2018 8
2019 8
2020 9
2021 12
2022 13
2023 8
2024 4

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103 results

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Page 1
Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F. Sartorelli J, et al. Among authors: nicita f. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 Free PMC article.
White matter abnormalities in 15 subjects with SPG76.
Alkhalifa A, Chen S, Hasiloglu ZI, Filosto M, Cali E, Houlden H, Sgobbi de Souza P, Alavi A, Goizet C, Stevanin G, Taithe F, Nicita F, Vasco G, Tozza S, Cocozza S, Carboni N, Figus A, Wu J, Basak AN, Brais B, Rouleau G, La Piana R. Alkhalifa A, et al. Among authors: nicita f. J Neurol. 2023 Dec;270(12):5784-5792. doi: 10.1007/s00415-023-11918-5. Epub 2023 Aug 14. J Neurol. 2023. PMID: 37578488
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A. Cunha P, et al. Among authors: nicita f. Am J Hum Genet. 2023 Jul 6;110(7):1098-1109. doi: 10.1016/j.ajhg.2023.05.009. Epub 2023 Jun 9. Am J Hum Genet. 2023. PMID: 37301203 Free PMC article.
Type I Interferon Signature in NOTCH1-Related Leukoencephalopathy.
Nicita F, Travaglini L, Matteo V, Aiello C, Longo D, Insalaco A, Bertini E, Prencipe G. Nicita F, et al. Ann Neurol. 2023 May;93(5):1041-1043. doi: 10.1002/ana.26631. Epub 2023 Mar 21. Ann Neurol. 2023. PMID: 36892079 No abstract available.
Antioxidant Response in Human X-Linked Adrenoleukodystrophy Fibroblasts.
Petrillo S, D'Amico J, Nicita F, Torda C, Vasco G, Bertini ES, Cappa M, Piemonte F. Petrillo S, et al. Among authors: nicita f. Antioxidants (Basel). 2022 Oct 28;11(11):2125. doi: 10.3390/antiox11112125. Antioxidants (Basel). 2022. PMID: 36358497 Free PMC article.
103 results