Flavia Palombo
Overview
Explore the profile of Flavia Palombo including associated specialties, affiliations and a list of published articles.
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Articles
45
Citations
625
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Recent Articles
1.
Innella G, Coccia E, Cristalli C, Zacchi E, Calabrese S, Bacchi I, et al.
Clin Genet
. 2024 Dec;
PMID: 39707869
Broad-spectrum genetic tests often lead to the identification of variants of uncertain significance (VUS), a major issue in modern clinical genetics. A fair proportion of VUS may alter the splicing...
2.
Campbell T, Slone J, Metzger H, Liu W, Sacharow S, Yang A, et al.
Genet Med Open
. 2024 Dec;
2:100841.
PMID: 39669623
Purpose: Ferredoxin reductase (FDXR) is a flavoprotein that functions in both iron sulfur cluster biogenesis and steroid biosynthesis pathways in the mitochondria. Not surprisingly, loss of FDXR function causes severe...
3.
Bonfiglio F, Legati A, Lasorsa V, Palombo F, De Riso G, Isidori F, et al.
Hum Genomics
. 2024 Nov;
18(1):120.
PMID: 39501379
This comprehensive review provides insights and suggested strategies for the analysis of germline variants using second- and third-generation sequencing technologies (SGS and TGS). It addresses the critical stages of data...
4.
Seaby E, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, et al.
Brain
. 2024 Oct;
PMID: 39405200
DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes...
5.
Palombo F, Vaisfeld A, Tropeano V, Ormanbekova D, Bacchi I, Fiorini C, et al.
Neurogenetics
. 2024 Apr;
25(3):277-280.
PMID: 38625442
The reduced penetrance of TBP intermediate alleles and the recently proposed possible digenic TBP/STUB1 inheritance raised questions on the possible mechanism involved opening a debate on the existence of SCA48...
6.
Brugger M, Lauri A, Zhen Y, Gramegna L, Zott B, Sekulic N, et al.
Am J Hum Genet
. 2024 Feb;
111(3):594-613.
PMID: 38423010
The endosomal sorting complex required for transport (ESCRT) machinery is essential for membrane remodeling and autophagy and it comprises three multi-subunit complexes (ESCRT I-III). We report nine individuals from six...
7.
Amore G, Romagnoli M, Carbonelli M, Cascavilla M, De Negri A, Carta A, et al.
Am J Ophthalmol
. 2024 Jan;
262:114-124.
PMID: 38278202
Purpose: Heterozygous mutations in the AFG3L2 gene (encoding a mitochondrial protease indirectly reflecting on OPA1 cleavage) and ACO2 gene (encoding the mitochondrial enzyme aconitase) are associated with isolated forms of...
8.
Pietra A, Palombo F, Giannotta M, Maffei M, Fiorini C, Costa R, et al.
Neurol Genet
. 2024 Jan;
9(6):e200098.
PMID: 38235043
Objectives: gene encodes for Upstream Binding Transcription Factor, an essential protein for RNA metabolism. A recurrent de novo variant (c.628G>A; p.Glu210Lys) has recently been associated with a childhood-onset neurodegenerative disorder...
9.
Vacchiano V, Palombo F, Ormanbekova D, Fiorini C, Fiorentino A, Caporali L, et al.
Front Genet
. 2023 Dec;
14:1322067.
PMID: 38152653
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with a complex genetic architecture, showing monogenic, oligogenic, and polygenic inheritance. In this study, we describe the case of a 71 years-old...
10.
Mastrangelo A, Giannoccaro M, Donadio V, Ricciardiello F, Di Laudo F, Palombo F, et al.
Cerebellum
. 2023 Dec;
23(4):1718-1721.
PMID: 38060151
Progressive ataxia and palatal tremor (PAPT) and anti-IgLON5 disease share possible clinical presentations. Furthermore, both have been associated to a tauopathy mainly affecting the brainstem. Nonetheless, anti-IgLON5 antibodies have never...