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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
Chromatin remodeling and neuronal function: exciting links.
Santos M, Coelho PA, Maciel P. Santos M, et al. Among authors: maciel p. Genes Brain Behav. 2006;5 Suppl 2:80-91. doi: 10.1111/j.1601-183X.2006.00227.x. Genes Brain Behav. 2006. PMID: 16681803 Free article. Review.
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.
Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
Temudo T, Oliveira P, Santos M, Dias K, Vieira J, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Dias A, Cabral P, Monteiro J, Borges L, Gomes R, Barbosa C, Mira G, Eusébio F, Santos M, Sequeiros J, Maciel P. Temudo T, et al. Among authors: maciel p. Neurology. 2007 Apr 10;68(15):1183-7. doi: 10.1212/01.wnl.0000259086.34769.78. Neurology. 2007. PMID: 17420401
MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients.
Coutinho AM, Oliveira G, Katz C, Feng J, Yan J, Yang C, Marques C, Ataíde A, Miguel TS, Borges L, Almeida J, Correia C, Currais A, Bento C, Mota-Vieira L, Temudo T, Santos M, Maciel P, Sommer SS, Vicente AM. Coutinho AM, et al. Among authors: maciel p. Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):475-83. doi: 10.1002/ajmg.b.30490. Am J Med Genet B Neuropsychiatr Genet. 2007. PMID: 17427193 Free article.
227 results