Nectoux J - Search Results

1

Cardas R, Iliescu C, Butoianu N, Seferian A, Gataullina S, Gargaun E, Nectoux J, Bienvenu T, Craiu D, Gidaro T, Servais L. Cardas R, et al. Among authors: nectoux j. Neuromuscul Disord. 2017 Oct;27(10):911-913. doi: 10.1016/j.nmd.2017.07.008. Epub 2017 Jul 19. Neuromuscul Disord. 2017. PMID: 28802771

2

Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome.

Nectoux J, Heron D, Tallot M, Chelly J, Bienvenu T. Nectoux J, et al. Clin Genet. 2006 Jul;70(1):29-33. doi: 10.1111/j.1399-0004.2006.00629.x. Clin Genet. 2006. PMID: 16813600

3

Netrin G1 mutations are an uncommon cause of atypical Rett syndrome with or without epilepsy.

Nectoux J, Girard B, Bahi-Buisson N, Prieur F, Afenjar A, Rosas-Vargas H, Chelly J, Bienvenu T. Nectoux J, et al. Pediatr Neurol. 2007 Oct;37(4):270-4. doi: 10.1016/j.pediatrneurol.2007.06.002. Pediatr Neurol. 2007. PMID: 17903671

4

The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome.

Nectoux J, Bahi-Buisson N, Guellec I, Coste J, De Roux N, Rosas H, Tardieu M, Chelly J, Bienvenu T. Nectoux J, et al. Neurology. 2008 May 27;70(22 Pt 2):2145-51. doi: 10.1212/01.wnl.0000304086.75913.b2. Epub 2008 Apr 23. Neurology. 2008. PMID: 18434641

5

Key clinical features to identify girls with CDKL5 mutations.

Bahi-Buisson N, Nectoux J, Rosas-Vargas H, Milh M, Boddaert N, Girard B, Cances C, Ville D, Afenjar A, Rio M, Héron D, N'guyen Morel MA, Arzimanoglou A, Philippe C, Jonveaux P, Chelly J, Bienvenu T. Bahi-Buisson N, et al. Among authors: nectoux j. Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12. Brain. 2008. PMID: 18790821

6

The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform.

Fichou Y, Nectoux J, Bahi-Buisson N, Rosas-Vargas H, Girard B, Chelly J, Bienvenu T. Fichou Y, et al. Among authors: nectoux j. Neurogenetics. 2009 Apr;10(2):127-33. doi: 10.1007/s10048-008-0161-1. Epub 2008 Nov 26. Neurogenetics. 2009. PMID: 19034540

7

Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene.

Bahi-Buisson N, Girard B, Gautier A, Nectoux J, Fichou Y, Saillour Y, Poirier K, Chelly J, Bienvenu T. Bahi-Buisson N, et al. Among authors: nectoux j. Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):202-7. doi: 10.1002/ajmg.b.30974. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19455595

8

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Mencarelli MA, et al. Among authors: nectoux j. J Med Genet. 2010 Jan;47(1):49-53. doi: 10.1136/jmg.2009.067884. Epub 2009 Jul 2. J Med Genet. 2010. PMID: 19578037

9

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Bahi-Buisson N, Nectoux J, Girard B, Van Esch H, De Ravel T, Boddaert N, Plouin P, Rio M, Fichou Y, Chelly J, Bienvenu T. Bahi-Buisson N, et al. Among authors: nectoux j. Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6. Neurogenetics. 2010. PMID: 19806373

10

Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.

White R, Ho G, Schmidt S, Scheffer IE, Fischer A, Yendle SC, Bienvenu T, Nectoux J, Ellaway CJ, Darmanian A, Tong X, Cloosterman D, Bennetts B, Kalra V, Fullston T, Gecz J, Cox TC, Christodoulou J. White R, et al. Among authors: nectoux j. Twin Res Hum Genet. 2010 Apr;13(2):168-78. doi: 10.1375/twin.13.2.168. Twin Res Hum Genet. 2010. PMID: 20397747

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