Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

1,159 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
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: longo d. Genes (Basel). 2024 Apr 18;15(4):508. doi: 10.3390/genes15040508. Genes (Basel). 2024. PMID: 38674442 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: d amico j, longo d. 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.
Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome.
Macchiaiolo M, Panfili FM, Gonfiantini MV, Mastrogiorgio G, Buonuomo PS, Gaspari S, Longo D, Zollino M, Bartuli A. Macchiaiolo M, et al. Among authors: longo d. Am J Med Genet A. 2020 Nov;182(11):2746-2750. doi: 10.1002/ajmg.a.61840. Epub 2020 Sep 18. Am J Med Genet A. 2020. PMID: 32945094
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: longo d. 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.
An unusual presentation of tuberous sclerosis.
Macchiaiolo M, Buonuomo PS, Longo D, Valentini D, Bartuli A. Macchiaiolo M, et al. Among authors: longo d. Arch Dis Child. 2013 Mar;98(3):214-5. doi: 10.1136/archdischild-2012-302885. Epub 2013 Jan 12. Arch Dis Child. 2013. PMID: 23313916 No abstract available.
Sex Differences in Autism Spectrum Disorder: Diagnostic, Neurobiological, and Behavioral Features.
Napolitano A, Schiavi S, La Rosa P, Rossi-Espagnet MC, Petrillo S, Bottino F, Tagliente E, Longo D, Lupi E, Casula L, Valeri G, Piemonte F, Trezza V, Vicari S. Napolitano A, et al. Among authors: longo d. Front Psychiatry. 2022 May 13;13:889636. doi: 10.3389/fpsyt.2022.889636. eCollection 2022. Front Psychiatry. 2022. PMID: 35633791 Free PMC article. Review.
1,159 results