Lévy N - Search Results

1

A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.

Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, Lévy N, Megarbané A, Delague V, Bartoli M. Salvi A, et al. Among authors: levy n. Clin Genet. 2021 Jul;100(1):84-89. doi: 10.1111/cge.13959. Epub 2021 Mar 29. Clin Genet. 2021. PMID: 33733462

2

Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.

Böhm J, Chevessier F, Maues De Paula A, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M, Figarella-Branger D, Pouget J, Romero NB, Koch M, Ebel C, Levy N, Krahn M, Eymard B, Bartoli M, Laporte J. Böhm J, et al. Among authors: levy n. Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17. Am J Hum Genet. 2013. PMID: 23332920 Free PMC article.

3

Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.

Jaouadi H, Kraoua L, Chaker L, Atkinson A, Delague V, Levy N, Benkhalifa R, Mrad R, Abdelhak S, Zaffran S. Jaouadi H, et al. Among authors: levy n. J Hum Genet. 2018 Oct;63(10):1077-1082. doi: 10.1038/s10038-018-0492-1. Epub 2018 Jul 25. J Hum Genet. 2018. PMID: 30046096 Free article. Clinical Trial.

4

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.

Auguste Y, Delague V, Desvignes JP, Longepied G, Gnisci A, Besnier P, Levy N, Beroud C, Megarbane A, Metzler-Guillemain C, Mitchell MJ. Auguste Y, et al. Among authors: levy n. Am J Hum Genet. 2018 Sep 6;103(3):413-420. doi: 10.1016/j.ajhg.2018.07.013. Epub 2018 Aug 16. Am J Hum Genet. 2018. PMID: 30122541 Free PMC article.

5

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: levy n. Hum Mol Genet. 2019 Jul 15;28(14):2378-2394. doi: 10.1093/hmg/ddz060. Hum Mol Genet. 2019. PMID: 31090908

6

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: levy n. 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.

7

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.

Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V. Nicolas E, et al. Among authors: levy n. Eur J Hum Genet. 2010 Oct;18(10):1107-13. doi: 10.1038/ejhg.2010.82. Epub 2010 Jun 9. Eur J Hum Genet. 2010. PMID: 20531441 Free PMC article.

8

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene.

Blandin G, Beroud C, Labelle V, Nguyen K, Wein N, Hamroun D, Williams B, Monnier N, Rufibach LE, Urtizberea JA, Cau P, Bartoli M, Lévy N, Krahn M. Blandin G, et al. Among authors: levy n. Hum Mutat. 2012 Mar;33(3):E2317-31. doi: 10.1002/humu.22015. Epub 2011 Dec 29. Hum Mutat. 2012. PMID: 22213072

9

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: levy n. Ann Hum Genet. 2013 Jul;77(4):336-43. doi: 10.1111/ahg.12017. Epub 2013 Apr 2. Ann Hum Genet. 2013. PMID: 23550889

10

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.

Dionnet E, Defour A, Da Silva N, Salvi A, Lévy N, Krahn M, Bartoli M, Puppo F, Gorokhova S. Dionnet E, et al. Among authors: levy n. Hum Mutat. 2020 Oct;41(10):1797-1810. doi: 10.1002/humu.24083. Epub 2020 Jul 27. Hum Mutat. 2020. PMID: 32668095

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