Silvia Marchet
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Explore the profile of Silvia Marchet including associated specialties, affiliations and a list of published articles.
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31
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802
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Recent Articles
1.
Marchet S, Catania A, Ardissone A, Montano V, Einvag K, Iermito M, et al.
Clin Ther
. 2025 Mar;
PMID: 40087083
Purpose: The 6 months pilot, single arm, phase I/II, open-label clinical trial PHEMI investigated the safety and efficacy of daily administration of phenylbutyrate in reducing lactic acidosis by at least...
2.
Berti B, Verrigni D, Nasca A, Di Nottia M, Leone D, Torraco A, et al.
Int J Mol Sci
. 2024 Jul;
25(14).
PMID: 39063023
Mitochondrial fission and fusion are vital dynamic processes for mitochondrial quality control and for the maintenance of cellular respiration; they also play an important role in the formation and maintenance...
3.
Sala D, Marchet S, Nanetti L, Legati A, Mariotti C, Lamantea E, et al.
Orphanet J Rare Dis
. 2024 May;
19(1):200.
PMID: 38755691
Background: MT-ATP6 is a mitochondrial gene which encodes for the intramembrane subunit 6 (or A) of the mitochondrial ATP synthase, also known asl complex V, which is involved in the...
4.
Baglivo M, Nasca A, Lamantea E, Vinci S, Spagnolo M, Marchet S, et al.
Int J Mol Sci
. 2023 Aug;
24(16).
PMID: 37628761
Leber's hereditary optic neuropathy (LHON) is a disease that affects the optical nerve, causing visual loss. The diagnosis of LHON is mostly defined by the identification of three pathogenic variants...
5.
Cavaliere A, Marchet S, Di Meo I, Tiranti V
J Vis Exp
. 2022 Mar;
(181).
PMID: 35343952
Deficiency of the mitochondrial respiratory chain complexes that carry out oxidative phosphorylation (OXPHOS) is the biochemical marker of human mitochondrial disorders. From a genetic point of view, the OXPHOS represents...
6.
Peverelli L, Catania A, Marchet S, Ciasca P, Cammarata G, Melzi L, et al.
Front Neurol
. 2021 Jun;
12:657317.
PMID: 34177762
Leber's hereditary optic neuropathy (LHON) is due to missense point mutations affecting mitochondrial DNA (mtDNA); 90% of cases harbor the m.3460G>A, m.11778G>A, and m.14484T>C primary mutations. Here, we report and...
7.
Ticci C, Orsucci D, Ardissone A, Bello L, Bertini E, Bonato I, et al.
J Clin Med
. 2021 Jun;
10(10).
PMID: 34065803
Movement disorders are increasingly being recognized as a manifestation of childhood-onset mitochondrial diseases (MDs). However, the spectrum and characteristics of these conditions have not been studied in detail in the...
8.
Montano V, Gruosso F, Carelli V, Comi G, Filosto M, Lamperti C, et al.
Neurol Genet
. 2020 Nov;
6(6):e519.
PMID: 33209982
Objective: To determine whether a set of functional tests, clinical scales, patient-reported questionnaires, and specific biomarkers can be considered reliable outcome measures in patients with primary mitochondrial myopathy (PMM), we...
9.
Lamperti C, Marchet S, Legati A, Ghezzi D
Hum Mutat
. 2020 Oct;
41(11):2014-2015.
PMID: 33113594
No abstract available.
10.
Brunetti D, Bottani E, Segala A, Marchet S, Rossi F, Orlando F, et al.
Front Pharmacol
. 2020 Aug;
11:1171.
PMID: 32848778
The age-dependent declines of skeletal muscle and cognitive functions often coexist in elderly subjects. The underlying pathophysiological mechanisms share common features of mitochondrial dysfunction, which plays a central role in...