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

Year Number of Results
2003 1
2005 2
2006 1
2007 3
2008 2
2009 4
2010 2
2011 1
2012 2
2013 5
2014 3
2015 3
2016 4
2017 6
2018 8
2019 6
2020 6
2021 10
2022 14
2023 4
2024 2

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73 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: travaglini l. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 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. Among authors: travaglini l. 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.
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2.
Blasco-Pérez L, Costa-Roger M, Leno-Colorado J, Bernal S, Alias L, Codina-Solà M, Martínez-Cruz D, Castiglioni C, Bertini E, Travaglini L, Millán JM, Aller E, Sotoca J, Juntas R, Hoei-Hansen CE, Moreno-Escribano A, Guillén-Navarro E, Costa-Comellas L, Munell F, Boronat S, Rojas-García R, Povedano M, Cuscó I, Tizzano EF. Blasco-Pérez L, et al. Among authors: travaglini l. Int J Mol Sci. 2022 Jul 27;23(15):8289. doi: 10.3390/ijms23158289. Int J Mol Sci. 2022. PMID: 35955418 Free PMC article.
Expanding phenotype of FAM111B-related disease focusing on liver involvement: Literature review, report of a case with end-stage liver disease and proposal for a new acronym.
Macchiaiolo M, Panfili FM, Vecchio D, Cortellessa F, Gonfiantini MV, Buonuomo PS, Pietrobattista A, Francalanci P, Travaglini L, Bertini ES, El Hachem M, Bartuli A. Macchiaiolo M, et al. Among authors: travaglini l. Am J Med Genet A. 2022 Oct;188(10):2920-2931. doi: 10.1002/ajmg.a.62906. Epub 2022 Jul 23. Am J Med Genet A. 2022. PMID: 35869874 Free PMC article. Review.
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F. Romaniello R, et al. Among authors: travaglini l. Int J Mol Sci. 2022 Jun 16;23(12):6723. doi: 10.3390/ijms23126723. Int J Mol Sci. 2022. PMID: 35743164 Free PMC article.
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F, Stregapede F, Deodato F, Pizzi S, Martinelli S, Pagliara D, Aiello C, Cumbo F, Piemonte F, D'Amico J, Pro S, Longo D, Genovese S, Tartaglia M, Escolar ML, Bertini E, Travaglini L. Nicita F, et al. Among authors: travaglini l. Eur J Hum Genet. 2022 Aug;30(8):984-988. doi: 10.1038/s41431-022-01111-z. Epub 2022 May 17. Eur J Hum Genet. 2022. PMID: 35581417 Free PMC article.
73 results