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Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
Epilepsia. 2011 Oct;52(10):1828-34. doi: 10.1111/j.1528-1167.2011.03181.x. Epub 2011 Jul 19.
Epilepsia. 2011.
PMID: 21770924
Free article.
Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway.
Roux JC, Zala D, Panayotis N, Borges-Correia A, Saudou F, Villard L.
Roux JC, et al. Among authors: borges correia a.
Neurobiol Dis. 2012 Feb;45(2):786-95. doi: 10.1016/j.nbd.2011.11.002. Epub 2011 Nov 15.
Neurobiol Dis. 2012.
PMID: 22127389
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[Unexpected link between Huntington disease and Rett syndrome].
Roux JC, Zala D, Panayotis N, Borges-Correia A, Saudou F, Villard L.
Roux JC, et al. Among authors: borges correia a.
Med Sci (Paris). 2012 Jan;28(1):44-6. doi: 10.1051/medsci/2012281016. Epub 2012 Jan 27.
Med Sci (Paris). 2012.
PMID: 22289830
Free article.
French.
No abstract available.
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Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.
Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L.
Cacciagli P, et al. Among authors: borges correia a.
Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.
Am J Hum Genet. 2013.
PMID: 24011989
Free PMC article.
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Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse.
Panayotis N, Pratte M, Borges-Correia A, Ghata A, Villard L, Roux JC.
Panayotis N, et al. Among authors: borges correia a.
Neurobiol Dis. 2011 Feb;41(2):385-97. doi: 10.1016/j.nbd.2010.10.006. Epub 2010 Oct 14.
Neurobiol Dis. 2011.
PMID: 20951208
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A codon-optimized Mecp2 transgene corrects breathing deficits and improves survival in a mouse model of Rett syndrome.
Matagne V, Ehinger Y, Saidi L, Borges-Correia A, Barkats M, Bartoli M, Villard L, Roux JC.
Matagne V, et al. Among authors: borges correia a.
Neurobiol Dis. 2017 Mar;99:1-11. doi: 10.1016/j.nbd.2016.12.009. Epub 2016 Dec 11.
Neurobiol Dis. 2017.
PMID: 27974239
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Analysis of Astroglial Secretomic Profile in the Mecp2-Deficient Male Mouse Model of Rett Syndrome.
Ehinger Y, Matagne V, Cunin V, Borloz E, Seve M, Bourgoin-Voillard S, Borges-Correia A, Villard L, Roux JC.
Ehinger Y, et al. Among authors: borges correia a.
Int J Mol Sci. 2021 Apr 21;22(9):4316. doi: 10.3390/ijms22094316.
Int J Mol Sci. 2021.
PMID: 33919253
Free PMC article.
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