Eugenia Borgione
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Explore the profile of Eugenia Borgione including associated specialties, affiliations and a list of published articles.
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Articles
20
Citations
155
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Recent Articles
1.
Messina C, Gulizia S, Scalia F, Borgione E, Cappello F, Brighina F, et al.
J Pers Med
. 2025 Feb;
15(2).
PMID: 39997338
Hereditary transthyretin amyloidosis (hATTR) is a rare disorder with a largely variable worldwide prevalence, and it is caused by autosomal dominant mutations in the transthyretin () gene, leading to cardiological,...
2.
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...
3.
Di Stefano V, Guaraldi P, Giglia F, Cani I, Pignolo A, Codeluppi L, et al.
Brain Sci
. 2024 Jun;
14(6).
PMID: 38928520
Hereditary transthyretin amyloidosis (hATTR) is a multisystemic, rare, inherited, progressive and adult-onset disease, affecting the sensory-motor nerves, heart, autonomic function, and other organs. There are over 130 mutations known in...
4.
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...
5.
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...
6.
Salemi M, Cosentino F, Lanza G, Cantone M, Salluzzo M, Giurato G, et al.
Arch Med Sci
. 2023 Jun;
19(3):678-686.
PMID: 37313207
Introduction: Parkinson's disease (PD) is a common adult-onset neurodegenerative disorder caused by a progressive loss of dopaminergic neurons due to the accumulation of α-synuclein in the substantia nigra. Mitochondria are...
7.
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...
8.
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....
9.
Iacono S, Lupica A, Di Stefano V, Borgione E, Brighina F
Acta Myol
. 2022 Apr;
41(1):37-40.
PMID: 35465342
McArdle's disease is an autosomal recessive glycogenosis due to mutation in the myophosphorylase gene () resulting in a pure myopathy. The clinical onset typically occurs in childhood with cramps, myalgia,...
10.
Salemi M, Lanza G, Mogavero M, Cosentino F, Borgione E, Iorio R, et al.
Int J Mol Sci
. 2022 Feb;
23(3).
PMID: 35163455
Parkinson's disease (PD) is the second most common neurodegenerative disorder. The number of cases of PD is expected to double by 2030, representing a heavy burden on the healthcare system....