Concetta Simona Perrotta
Overview
Explore the profile of Concetta Simona Perrotta including associated specialties, affiliations and a list of published articles.
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4
Citations
75
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Recent Articles
1.
Salemi M, Di Stefano V, Schillaci F, Marchese G, Salluzzo M, Cordella A, et al.
Diagnostics (Basel)
. 2025 Feb;
15(4).
PMID: 40002561
: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the expansion of the CAG nucleotide repeat in the first exon of the huntingtin () gene. The disease...
2.
Benvenuto M, Palumbo P, Di Muro E, Perrotta C, Mazza T, Mandara G, et al.
Genes (Basel)
. 2023 Oct;
14(10).
PMID: 37895307
The FOXP subfamily includes four different transcription factors: FOXP1, FOXP2, FOXP3, and FOXP4, all with important roles in regulating gene expression from early development through adulthood. Haploinsufficiency of , due...
3.
Salemi M, Mandara L, Salluzzo M, Schillaci F, Castiglione R, Cordella A, et al.
Mol Biol Rep
. 2023 Oct;
50(11):9715-9720.
PMID: 37812352
Background: Gerstmann Sträussler Scheinker (GSS) is an inherited, invariably fatal prion disease. Like other human prion diseases, GSS is caused by missense mutations in the prion protein (PrP) gene (PRNP),...
4.
Kleefstra T, de Leeuw N, Wolf R, Nillesen W, Schobers G, Mieloo H, et al.
Am J Med Genet A
. 2010 Aug;
152A(9):2221-9.
PMID: 20683990
Supernumerary marker chromosomes (SMC) originating from chromosome 15 are the most common SMCs. They encompass clinically irrelevant SMC(15)s containing only heterochromatin and 15p material, and clinically relevant SMC(15)s that consist...
5.
Mattina T, Perrotta C, Grossfeld P
Orphanet J Rare Dis
. 2009 Mar;
4:9.
PMID: 19267933
Jacobsen syndrome is a MCA/MR contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11. To date, over 200 cases have been reported. The prevalence has...