Delague V - Search Results

1

Canine neuropathies: powerful spontaneous models for human hereditary sensory neuropathies.

Correard S, Plassais J, Lagoutte L, Botherel N, Thibaud JL, Hédan B, Richard L, Lia AS, Delague V, Mège C, Mathis S, Guaguère E, Paradis M, Vallat JM, Quignon P, André C. Correard S, et al. Among authors: delague v. Hum Genet. 2019 May;138(5):455-466. doi: 10.1007/s00439-019-02003-x. Epub 2019 Apr 6. Hum Genet. 2019. PMID: 30955094 Review.

2

Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations.

De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Lévy N, Mégarbané A. De Sandre-Giovannoli A, et al. Among authors: delague v. J Med Genet. 2003 Jul;40(7):e87. doi: 10.1136/jmg.40.7.e87. J Med Genet. 2003. PMID: 12843336 Free PMC article. No abstract available.

3

Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.

Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Mégarbané A, Haase G, Lévy N. Delague V, et al. Am J Hum Genet. 2007 Jul;81(1):1-16. doi: 10.1086/518428. Epub 2007 May 15. Am J Hum Genet. 2007. PMID: 17564959 Free PMC article.

4

Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C).

Poitelon Y, Kozlov S, Devaux J, Vallat JM, Jamon M, Roubertoux P, Rabarimeriarijaona S, Baudot C, Hamadouche T, Stewart CL, Levy N, Delague V. Poitelon Y, et al. Among authors: delague v. Neuromolecular Med. 2012 Mar;14(1):40-52. doi: 10.1007/s12017-012-8168-z. Epub 2012 Feb 14. Neuromolecular Med. 2012. PMID: 22331516

5

A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.

Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V. Boubaker C, et al. Among authors: delague v. Ann Hum Genet. 2013 Jul;77(4):336-43. doi: 10.1111/ahg.12017. Epub 2013 Apr 2. Ann Hum Genet. 2013. PMID: 23550889

6

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

El-Bazzal L, Rihan K, Bernard-Marissal N, Castro C, Chouery-Khoury E, Desvignes JP, Atkinson A, Bertaux K, Koussa S, Lévy N, Bartoli M, Mégarbané A, Jabbour R, Delague V. El-Bazzal L, et al. Among authors: delague v. Hum Mol Genet. 2019 Jul 15;28(14):2378-2394. doi: 10.1093/hmg/ddz060. Hum Mol Genet. 2019. PMID: 31090908

7

Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease.

Mortreux J, Bacquet J, Boyer A, Alazard E, Bellance R, Giguet-Valard AG, Cerino M, Krahn M, Audic F, Chabrol B, Laugel V, Desvignes JP, Béroud C, Nguyen K, Verschueren A, Lévy N, Attarian S, Delague V, Missirian C, Bonello-Palot N. Mortreux J, et al. Among authors: delague v. J Hum Genet. 2020 Mar;65(3):313-323. doi: 10.1038/s10038-019-0710-5. Epub 2019 Dec 18. J Hum Genet. 2020. PMID: 31852984

8

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.

Morel V, Campana-Salort E, Boyer A, Esselin F, Walther-Louvier U, Querin G, Latour P, Lia AS, Magdelaine C, Beze-Beyrie P, Behin A, Delague V, Levy N, Stojkovic T, Attarian S, Bonello-Palot N. Morel V, et al. Among authors: delague v. Clin Genet. 2022 Nov;102(5):379-390. doi: 10.1111/cge.14198. Epub 2022 Aug 16. Clin Genet. 2022. PMID: 35882622 Free PMC article. Review.

9

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Mégarbané A, Claustres M. Delague V, et al. Am J Hum Genet. 2000 Jul;67(1):236-43. doi: 10.1086/302980. Epub 2000 Jun 2. Am J Hum Genet. 2000. PMID: 10848494 Free PMC article.

10

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease.

Guilbot A, Williams A, Ravisé N, Verny C, Brice A, Sherman DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Mégarbané A, Claustres M. Guilbot A, et al. Among authors: delague v. Hum Mol Genet. 2001 Feb 15;10(4):415-21. doi: 10.1093/hmg/10.4.415. Hum Mol Genet. 2001. PMID: 11157804

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