Carmela Scuderi
Overview
Explore the profile of Carmela Scuderi including associated specialties, affiliations and a list of published articles.
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Articles
23
Citations
251
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0
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Recent Articles
1.
Giuliano M, Santa Paola S, Borgione E, Lo Giudice M, Di Blasi F, Pettinato R, et al.
Int J Mol Sci
. 2024 Oct;
25(19).
PMID: 39409155
The loss of one of the two copies of the 9 bp tandem repeat sequence (CCCCCTCTA) located in the small non-coding region between the cytochrome oxidase II (COII) and the...
2.
Santa Paola S, Di Blasi F, Borgione E, Lo Giudice M, Giuliano M, Pettinato R, et al.
Genes (Basel)
. 2024 Jan;
15(1).
PMID: 38275615
Aromatic L-amino acid decarboxylase deficiency (AADCd) is a rare autosomal recessive neurometabolic disorder caused by AADC deficiency, an enzyme encoded by the gene. Since the enzyme is involved in the...
3.
Di Stefano V, Lupica A, Alonge P, Pignolo A, Augello S, Gentile F, et al.
Eur J Neurol
. 2023 Sep;
31(1):e16065.
PMID: 37725003
Background And Purpose: Hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is caused by mutations in the TTR gene, leading to misfolded monomers that aggregate generating amyloid fibrils. Methods: A prospective systematic...
4.
Borgione E, Lo Giudice M, Santa Paola S, Giuliano M, Lanza G, Cantone M, et al.
Biomedicines
. 2023 May;
11(4).
PMID: 37189790
Background: The POLG gene encodes the catalytic subunit of DNA polymerase γ, which is crucial for mitochondrial DNA (mtDNA) repair and replication. Gene mutation alters the stability of mtDNA and...
5.
Borgione E, Lo Giudice M, Santa Paola S, Giuliano M, Di Blasi F, Di Stefano V, et al.
Life (Basel)
. 2023 Feb;
13(2).
PMID: 36836911
Mitochondrial tRNA is considered a hot-spot for non-syndromic and aminoglycoside-induced hearing loss. However, many patients have been described with more extensive neurological diseases, mainly including epilepsy, myoclonus, ataxia, and myopathy....
6.
Musumeci A, Cali F, Scuderi C, Vinci M, Vitello G, Musumeci S, et al.
Biomedicines
. 2022 Sep;
10(9).
PMID: 36140376
Recessive mutations in the POLR3A gene cause POLR3-HLD (the second-most-common form of childhood-onset hypomyelinating leukodystrophy), a neurodegenerative disorder featuring deficient cerebral myelin formation. To date, more than 140 POLR3A (NM_007055.3)...
7.
Vitello G, Cali F, Vinci M, Scuderi C, LEpiscopo F, Musumeci A, et al.
J Musculoskelet Neuronal Interact
. 2020 Dec;
20(4):610-613.
PMID: 33265090
Spinal muscular atrophy (SMA) refers to a group of genetic neuromuscular disorders affecting lower motor neurons causative of numerous phenotypes. To date, according to the age of onset, maximum muscular...
8.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano M, et al.
Front Genet
. 2020 Mar;
11:131.
PMID: 32194622
Dystrophinopathies are inherited diseases caused by mutations in the dystrophin () gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the...
9.
Scuderi C, Saccuzzo L, Vinci M, Castiglia L, Galesi O, Salemi M, et al.
Eur J Hum Genet
. 2019 Jan;
27(4):594-602.
PMID: 30659260
In recent years, chromosomal microarray analysis has permitted the discovery of rearrangements underlying several neurodevelopmental disorders and still represents the first diagnostic test for unexplained neurodevelopmental disabilities. Here we report...
10.
Pironti E, Salpietro V, Cucinotta F, Granata F, Mormina E, Efthymiou S, et al.
J Neurogenet
. 2018 Jul;
32(4):316-321.
PMID: 29989513
Biallelic mutations in the SLC1A4 gene have been identified as a very rare cause of neurodevelopmental disorders. l-serine transport deficiency has been regarded as the causal molecular mechanism underlying the...