Bienvenu T - 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: bienvenu t. 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

Gene mutations in paediatric epilepsies cause NMDA-pathy, and phasic and tonic GABA-pathy.

Gataullina S, Bienvenu T, Nabbout R, Huberfeld G, Dulac O. Gataullina S, et al. Among authors: bienvenu t. Dev Med Child Neurol. 2019 Aug;61(8):891-898. doi: 10.1111/dmcn.14152. Epub 2019 Jan 25. Dev Med Child Neurol. 2019. PMID: 30680721 Free article. Review.

3

New insights in phenomenology and treatment of epilepsy in CDKL5 encephalopathy.

Melikishvili G, Epitashvili N, Tabatadze N, Chikvinidze G, Dulac O, Bienvenu T, Gataullina S. Melikishvili G, et al. Among authors: bienvenu t. Epilepsy Behav. 2019 May;94:308-311. doi: 10.1016/j.yebeh.2019.02.013. Epub 2019 Mar 18. Epilepsy Behav. 2019. PMID: 30898514

4

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

5

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

Masliah-Plachon J, Auvin S, Nectoux J, Fichou Y, Chelly J, Bienvenu T. Masliah-Plachon J, et al. Among authors: bienvenu t. Am J Med Genet A. 2010 Aug;152A(8):2110-1. doi: 10.1002/ajmg.a.33037. Am J Med Genet A. 2010. PMID: 20602487 No abstract available.

6

Cell cloning-based transcriptome analysis in cyclin-dependent kinase-like 5 mutation patients with severe epileptic encephalopathy.

Nectoux J, Fichou Y, Cagnard N, Bahi-Buisson N, Nusbaum P, Letourneur F, Chelly J, Bienvenu T. Nectoux J, et al. Among authors: bienvenu t. J Mol Med (Berl). 2011 Feb;89(2):193-202. doi: 10.1007/s00109-010-0699-x. Epub 2010 Nov 24. J Mol Med (Berl). 2011. PMID: 21107515

7

Mutations in the C-terminus of CDKL5: proceed with caution.

Diebold B, Delépine C, Gataullina S, Delahaye A, Nectoux J, Bienvenu T. Diebold B, et al. Among authors: bienvenu t. Eur J Hum Genet. 2014 Feb;22(2):270-2. doi: 10.1038/ejhg.2013.133. Epub 2013 Jun 12. Eur J Hum Genet. 2014. PMID: 23756444 Free PMC article.

8

An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain.

Fichou Y, Nectoux J, Bahi-Buisson N, Chelly J, Bienvenu T. Fichou Y, et al. Among authors: bienvenu t. J Hum Genet. 2011 Jan;56(1):52-7. doi: 10.1038/jhg.2010.143. Epub 2010 Dec 2. J Hum Genet. 2011. PMID: 21124335

9

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. Among authors: bienvenu t. 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

10

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: bienvenu t. Pediatr Neurol. 2007 Oct;37(4):270-4. doi: 10.1016/j.pediatrneurol.2007.06.002. Pediatr Neurol. 2007. PMID: 17903671

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