Represa A - Search Results

1

TBC1D24 regulates axonal outgrowth and membrane trafficking at the growth cone in rodent and human neurons.

Aprile D, Fruscione F, Baldassari S, Fadda M, Ferrante D, Falace A, Buhler E, Sartorelli J, Represa A, Baldelli P, Benfenati F, Zara F, Fassio A. Aprile D, et al. Among authors: represa a. Cell Death Differ. 2019 Nov;26(11):2464-2478. doi: 10.1038/s41418-019-0313-x. Epub 2019 Mar 11. Cell Death Differ. 2019. PMID: 30858606 Free PMC article.

2

A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A.

Carabalona A, Beguin S, Pallesi-Pocachard E, Buhler E, Pellegrino C, Arnaud K, Hubert P, Oualha M, Siffroi JP, Khantane S, Coupry I, Goizet C, Gelot AB, Represa A, Cardoso C. Carabalona A, et al. Among authors: represa a. Hum Mol Genet. 2012 Mar 1;21(5):1004-17. doi: 10.1093/hmg/ddr531. Epub 2011 Nov 10. Hum Mol Genet. 2012. PMID: 22076441

3

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.

Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R. Conti V, et al. Among authors: represa a. Brain. 2013 Nov;136(Pt 11):3378-94. doi: 10.1093/brain/awt249. Epub 2013 Sep 20. Brain. 2013. PMID: 24056535

4

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway.

Falace A, Buhler E, Fadda M, Watrin F, Lippiello P, Pallesi-Pocachard E, Baldelli P, Benfenati F, Zara F, Represa A, Fassio A, Cardoso C. Falace A, et al. Among authors: represa a. Proc Natl Acad Sci U S A. 2014 Feb 11;111(6):2337-42. doi: 10.1073/pnas.1316294111. Epub 2014 Jan 27. Proc Natl Acad Sci U S A. 2014. PMID: 24469796 Free PMC article.

5

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

Conti V, Carabalona A, Pallesi-Pocachard E, Leventer RJ, Schaller F, Parrini E, Deparis AA, Watrin F, Buhler E, Novara F, Lise S, Pagnamenta AT, Kini U, Taylor JC, Zuffardi O, Represa A, Keays DA, Guerrini R, Falace A, Cardoso C. Conti V, et al. Among authors: represa a. J Vis Exp. 2017 Dec 1;(130):53570. doi: 10.3791/53570. J Vis Exp. 2017. PMID: 29286390 Free PMC article.

6

Correct Laminar Positioning in the Neocortex Influences Proper Dendritic and Synaptic Development.

Martineau FS, Sahu S, Plantier V, Buhler E, Schaller F, Fournier L, Chazal G, Kawasaki H, Represa A, Watrin F, Manent JB. Martineau FS, et al. Among authors: represa a. Cereb Cortex. 2018 Aug 1;28(8):2976-2990. doi: 10.1093/cercor/bhy113. Cereb Cortex. 2018. PMID: 29788228 Free PMC article.

7

Direct and Collateral Alterations of Functional Cortical Circuits in a Rat Model of Subcortical Band Heterotopia.

Plantier V, Watrin F, Buhler E, Martineau FS, Sahu S, Manent JB, Bureau I, Represa A. Plantier V, et al. Among authors: represa a. Cereb Cortex. 2019 Sep 13;29(10):4253-4262. doi: 10.1093/cercor/bhy307. Cereb Cortex. 2019. PMID: 30534979

8

Spontaneous epileptiform activity in a rat model of bilateral subcortical band heterotopia.

Sahu S, Buhler E, Vermoyal JC, Watrin F, Represa A, Manent JB. Sahu S, et al. Among authors: represa a. Epilepsia. 2019 Feb;60(2):337-348. doi: 10.1111/epi.14633. Epub 2018 Dec 30. Epilepsia. 2019. PMID: 30597542 Free PMC article.

9

Spared cognitive and behavioral functions prior to epilepsy onset in a rat model of subcortical band heterotopia.

Martineau FS, Fournier L, Buhler E, Watrin F, Sargolini F, Manent JB, Poucet B, Represa A. Martineau FS, et al. Among authors: represa a. Brain Res. 2019 May 15;1711:146-155. doi: 10.1016/j.brainres.2019.01.030. Epub 2019 Jan 25. Brain Res. 2019. PMID: 30689978

10

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Pelorosso C, Watrin F, Conti V, Buhler E, Gelot A, Yang X, Mei D, McEvoy-Venneri J, Manent JB, Cetica V, Ball LL, Buccoliero AM, Vinck A, Barba C, Gleeson JG, Guerrini R, Represa A. Pelorosso C, et al. Among authors: represa a. Hum Mol Genet. 2019 Nov 15;28(22):3755-3765. doi: 10.1093/hmg/ddz194. Hum Mol Genet. 2019. PMID: 31411685 Free PMC article.

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