Leturcq F - Search Results

1

Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.

Cannie DE, Syrris P, Protonotarios A, Bakalakos A, Pruny JF, Ditaranto R, Martinez-Veira C, Larrañaga-Moreira JM, Medo K, Bermúdez-Jiménez FJ, Ben Yaou R, Leturcq F, Mezcua AR, Marini-Bettolo C, Cabrera E, Reuter C, Limeres Freire J, Rodríguez-Palomares JF, Mestroni L, Taylor MRG, Parikh VN, Ashley EA, Barriales-Villa R, Jiménez-Jáimez J, Garcia-Pavia P, Charron P, Biagini E, García Pinilla JM, Bourke J, Savvatis K, Wahbi K, Elliott PM. Cannie DE, et al. Among authors: leturcq f. Eur Heart J. 2023 Dec 21;44(48):5064-5073. doi: 10.1093/eurheartj/ehad561. Eur Heart J. 2023. PMID: 37639473 Free PMC article.

2

[Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook].

Verebi C, Gravrand V, Pacault M, Audrezet MP, Couque N, Vincent MC, Leturcq F, Tsatsaris V, Bienvenu T, Nectoux J. Verebi C, et al. Among authors: leturcq f. Gynecol Obstet Fertil Senol. 2023 Oct;51(10):463-470. doi: 10.1016/j.gofs.2023.07.005. Epub 2023 Jul 28. Gynecol Obstet Fertil Senol. 2023. PMID: 37517661 Review. French.

3

Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.

Berling E, Verebi C, Venturelli N, Vassilopoulos S, Béhin A, Tard C, Michaud M, Quiles RNV, Vicart S, Masingue M, Carlier RY, Romero NB, Lacene E, Leturcq F, Eymard B, Laforêt P, Stojkovic T. Berling E, et al. Among authors: leturcq f. Eur J Neurol. 2023 Aug;30(8):2506-2517. doi: 10.1111/ene.15832. Epub 2023 May 25. Eur J Neurol. 2023. PMID: 37166430

4

A retrospective cohort study and review of the literature about germline mosaicism in Duchenne/Becker muscular dystrophy prenatal counseling: How to estimate the recurrence risk in clinical settings?

Verebi C, Gravrand V, Bienvenu T, Leturcq F, Nectoux J. Verebi C, et al. Among authors: leturcq f. J Genet Couns. 2024 Jun 19. doi: 10.1002/jgc4.1932. Online ahead of print. J Genet Couns. 2024. PMID: 38895972

5

Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.

Pacault M, Verebi C, Champion M, Orhant L, Perrier A, Girodon E, Leturcq F, Vidaud D, Férec C, Bienvenu T, Daveau R, Nectoux J. Pacault M, et al. Among authors: leturcq f. PLoS One. 2023 Apr 24;18(4):e0280976. doi: 10.1371/journal.pone.0280976. eCollection 2023. PLoS One. 2023. PMID: 37093806 Free PMC article.

6

Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways.

Petrova E, López-Gay JM, Fahrner M, Leturcq F, de Villartay JP, Barbieux C, Gonschorek P, Tsoi LC, Gudjonsson JE, Schilling O, Hovnanian A. Petrova E, et al. Among authors: leturcq f. Commun Biol. 2024 Feb 5;7(1):152. doi: 10.1038/s42003-024-05780-y. Commun Biol. 2024. PMID: 38316920 Free PMC article.

7

Prognosis of Right Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy.

Fayssoil A, Mansencal N, Nguyen LS, Nardi O, Yaou RB, Leturcq F, Amthor H, Wahbi K, Becane HM, Lofaso F, Prigent H, Bassez G, Behin A, Stojkovic T, Fontaine B, Duboc D, Dubourg O, Clair B, Laforet P, Annane D, Orlikowski D. Fayssoil A, et al. Among authors: leturcq f. J Am Heart Assoc. 2023 Aug 15;12(16):e027231. doi: 10.1161/JAHA.122.027231. Epub 2023 Aug 10. J Am Heart Assoc. 2023. PMID: 37581390 Free PMC article. Clinical Trial.

8

Diagnosis and management of Becker muscular dystrophy: the French guidelines.

Magot A, Wahbi K, Leturcq F, Jaffre S, Péréon Y, Sole G; French BMD working group. Magot A, et al. Among authors: leturcq f. J Neurol. 2023 Oct;270(10):4763-4781. doi: 10.1007/s00415-023-11837-5. Epub 2023 Jul 9. J Neurol. 2023. PMID: 37422773 Free article. Review.

9

How a paternal uniparental isodisomy of chromosome 17 leads to autosomal recessive limb-girdle muscular dystrophy R3.

Verebi C, Caumes R, Chantot-Bastaraud S, Deburgrave N, Orhant L, Vaucouleur N, Cuisset L, Bienvenu T, Leturcq F, Nectoux J. Verebi C, et al. Among authors: leturcq f. Neuromuscul Disord. 2023 May;33(5):367-370. doi: 10.1016/j.nmd.2023.03.004. Epub 2023 Mar 15. Neuromuscul Disord. 2023. PMID: 36996638

10

Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.

Pinto MJ, Fromes Y, Ackermann-Bonan I, Leturcq F, Verebi C, Romero NB, Stojkovic T. Pinto MJ, et al. Among authors: leturcq f. J Neuromuscul Dis. 2022;9(5):649-654. doi: 10.3233/JND-220823. J Neuromuscul Dis. 2022. PMID: 36031908

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