Benoit Funalot
Overview
Explore the profile of Benoit Funalot including associated specialties, affiliations and a list of published articles.
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96
Citations
1849
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Recent Articles
1.
Raynor A, Jacquel B, Francois S, Fellahi S, Mouri N, Berquet C, et al.
Br J Haematol
. 2025 Jan;
206(2):749-752.
PMID: 39761661
No abstract available.
2.
Neculae G, Zaroui A, Kharoubi M, Bezard M, Funalot B, Adam R, et al.
Int J Cardiol
. 2024 Nov;
419:132714.
PMID: 39521178
Aim And Methods: We conducted a retrospective observational study of the ATTRv heterozygous mutation frequency, phenotype, and all-cause mortality at two cardiac amyloidosis centers in Romania and France. Results: 291...
3.
Hagege A, Puscas T, El Hachmi M, Parodi A, Bacher A, Funalot B, et al.
Int J Cardiol
. 2024 Nov;
419:132692.
PMID: 39514999
No abstract available.
4.
Hebrard B, Babonneau M, Charron P, Consolino E, Dauriat B, Dupin-Deguine D, et al.
Orphanet J Rare Dis
. 2024 Oct;
19(1):403.
PMID: 39472905
Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR...
5.
Hagege A, Puscas T, El Hachmi M, Parodi A, Bacher A, Funalot B, et al.
Int J Cardiol
. 2024 Sep;
417():132542.
PMID: 39260623
Background: Although the optimal approach is debated, systematic genetic screening for hypertrophic cardiomyopathy (HCM) is recommended. Aims: The performance of this approach was tested in GEREMY, a HCM prospective observational...
6.
Pacot L, Vidaud D, Ye M, Chansavang A, Coustier A, Maillard T, et al.
NPJ Genom Med
. 2024 Sep;
9(1):41.
PMID: 39245665
We report our 5-year experience in neurofibromatosis type 1 prenatal diagnosis (PND): 205 PNDs in 146 women (chorionic villus biopsies, 88% or amniocentesis, 12%). The NF1 variant was present in...
7.
Volpentesta E, Kharoubi M, Donadio C, Rebiai K, Fanen P, Funalot B, et al.
ESC Heart Fail
. 2024 Jul;
11(6):3814-3832.
PMID: 39021317
Aims: Transthyretin cardiac amyloidosis (ATTR-CM) may be an underestimated cause of heart failure among geriatric patients and represent a unique phenotype and prognostic profile. Methods And Results: This retrospective, observational,...
8.
Mansour-Hendili L, Gitiaux C, Harion M, Latouche C, Heron B, Stojkovic T, et al.
Front Genet
. 2024 Feb;
15:1352006.
PMID: 38348452
Sodium dependent multivitamin transporter (SMVT) deficiency is a very rare autosomal recessive disorder characterized by multisystemic clinical manifestations due to combined biotin, panthotenic acid and lipoic acid deficiency. About 10...
9.
Li D, Wang Q, Bayat A, Battig M, Zhou Y, Bosch D, et al.
J Clin Invest
. 2023 Nov;
134(1).
PMID: 37962958
Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic...
10.
Schuermans N, El Chehadeh S, Hemelsoet D, Gautheron J, Vantyghem M, Nouioua S, et al.
Nat Genet
. 2023 Nov;
55(11):1929-1940.
PMID: 37919452
Phospholipase A/acyltransferase 3 (PLAAT3) is a phospholipid-modifying enzyme predominantly expressed in neural and white adipose tissue (WAT). It is a potential drug target for metabolic syndrome, as Plaat3 deficiency in...