Girard B - Search Results

1

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: girard b. Brain. 2008 Oct;131(Pt 10):2647-61. doi: 10.1093/brain/awn197. Epub 2008 Sep 12. Brain. 2008. PMID: 18790821

2

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: girard b. 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

3

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.

Nabbout R, Depienne C, Chipaux M, Girard B, Souville I, Trouillard O, Dulac O, Chelly J, Afenjar A, Héron D, Leguern E, Beldjord C, Bienvenu T, Bahi-Buisson N. Nabbout R, et al. Among authors: girard b. Epilepsy Res. 2009 Nov;87(1):25-30. doi: 10.1016/j.eplepsyres.2009.07.004. Epub 2009 Sep 5. Epilepsy Res. 2009. PMID: 19734009

4

Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy.

Rosas-Vargas H, Bahi-Buisson N, Philippe C, Nectoux J, Girard B, N'Guyen Morel MA, Gitiaux C, Lazaro L, Odent S, Jonveaux P, Chelly J, Bienvenu T. Rosas-Vargas H, et al. Among authors: girard b. J Med Genet. 2008 Mar;45(3):172-8. doi: 10.1136/jmg.2007.053504. Epub 2007 Nov 9. J Med Genet. 2008. PMID: 17993579

5

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T. Fichou Y, et al. Among authors: girard b. Neurology. 2009 Jul 7;73(1):77-8; author reply 78. doi: 10.1212/01.wnl.0000349658.05677.d7. Neurology. 2009. PMID: 19564592 No abstract available.

6

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. Among authors: girard b. Pediatr Neurol. 2007 Oct;37(4):270-4. doi: 10.1016/j.pediatrneurol.2007.06.002. Pediatr Neurol. 2007. PMID: 17903671

7

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: girard b. Neurogenetics. 2009 Apr;10(2):127-33. doi: 10.1007/s10048-008-0161-1. Epub 2008 Nov 26. Neurogenetics. 2009. PMID: 19034540

8

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: girard b. Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6. Neurogenetics. 2010. PMID: 19806373

9

Phasic and Tonic mGlu7 Receptor Activity Modulates the Thalamocortical Network.

Tassin V, Girard B, Chotte A, Fontanaud P, Rigault D, Kalinichev M, Perroy J, Acher F, Fagni L, Bertaso F. Tassin V, et al. Among authors: girard b. Front Neural Circuits. 2016 Apr 25;10:31. doi: 10.3389/fncir.2016.00031. eCollection 2016. Front Neural Circuits. 2016. PMID: 27199672 Free PMC article.

10

Gelatinase Biosensor Reports Cellular Remodeling During Epileptogenesis.

Bouquier N, Girard B, Aparicio Arias J, Fagni L, Bertaso F, Perroy J. Bouquier N, et al. Among authors: girard b. Front Synaptic Neurosci. 2020 Apr 21;12:15. doi: 10.3389/fnsyn.2020.00015. eCollection 2020. Front Synaptic Neurosci. 2020. PMID: 32372941 Free PMC article.

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