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Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
Costa MDC, Teixeira-Castro A, Constante M, Magalhães M, Magalhães P, Cerqueira J, Vale J, Passão V, Barbosa C, Robalo C, Coutinho P, Barros J, Santos MM, Sequeiros J, Maciel P. Costa MDC, et al. Among authors: maciel p. J Hum Genet. 2006;51(8):645-651. doi: 10.1007/s10038-006-0001-9. Epub 2006 Jul 21. J Hum Genet. 2006. PMID: 16858508 Free PMC article.
NEDD8: a new ataxin-3 interactor.
Ferro A, Carvalho AL, Teixeira-Castro A, Almeida C, Tomé RJ, Cortes L, Rodrigues AJ, Logarinho E, Sequeiros J, Macedo-Ribeiro S, Maciel P. Ferro A, et al. Among authors: maciel p. Biochim Biophys Acta. 2007 Nov;1773(11):1619-27. doi: 10.1016/j.bbamcr.2007.07.012. Epub 2007 Aug 24. Biochim Biophys Acta. 2007. PMID: 17935801 Free article.
Monoamine deficits in the brain of methyl-CpG binding protein 2 null mice suggest the involvement of the cerebral cortex in early stages of Rett syndrome.
Santos M, Summavielle T, Teixeira-Castro A, Silva-Fernandes A, Duarte-Silva S, Marques F, Martins L, Dierssen M, Oliveira P, Sousa N, Maciel P. Santos M, et al. Among authors: maciel p. Neuroscience. 2010 Oct 13;170(2):453-67. doi: 10.1016/j.neuroscience.2010.07.010. Epub 2010 Jul 13. Neuroscience. 2010. PMID: 20633611
Absence of ataxin-3 leads to enhanced stress response in C. elegans.
Rodrigues AJ, Neves-Carvalho A, Teixeira-Castro A, Rokka A, Corthals G, Logarinho E, Maciel P. Rodrigues AJ, et al. Among authors: maciel p. PLoS One. 2011 Apr 19;6(4):e18512. doi: 10.1371/journal.pone.0018512. PLoS One. 2011. PMID: 21526185 Free PMC article.
Redefining the MED13L syndrome.
Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Adegbola A, et al. Among authors: maciel p. Eur J Hum Genet. 2015 Oct;23(10):1308-17. doi: 10.1038/ejhg.2015.26. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758992 Free PMC article.
226 results