Maciel P - Search Results

1

Motor uncoordination and neuropathology in a transgenic mouse model of Machado-Joseph disease lacking intranuclear inclusions and ataxin-3 cleavage products.

Silva-Fernandes A, Costa Mdo C, Duarte-Silva S, Oliveira P, Botelho CM, Martins L, Mariz JA, Ferreira T, Ribeiro F, Correia-Neves M, Costa C, Maciel P. Silva-Fernandes A, et al. Among authors: maciel p. Neurobiol Dis. 2010 Oct;40(1):163-76. doi: 10.1016/j.nbd.2010.05.021. Epub 2010 May 25. Neurobiol Dis. 2010. PMID: 20510362

2

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and normal alleles.

Silveira I, Alonso I, Guimarães L, Mendonça P, Santos C, Maciel P, Fidalgo De Matos JM, Costa M, Barbot C, Tuna A, Barros J, Jardim L, Coutinho P, Sequeiros J. Silveira I, et al. Among authors: maciel p. Am J Hum Genet. 2000 Mar;66(3):830-40. doi: 10.1086/302827. Am J Hum Genet. 2000. PMID: 10712199 Free PMC article.

3

Improvement in the molecular diagnosis of Machado-Joseph disease.

Maciel P, Costa MC, Ferro A, Rousseau M, Santos CS, Gaspar C, Barros J, Rouleau GA, Coutinho P, Sequeiros J. Maciel P, et al. Arch Neurol. 2001 Nov;58(11):1821-7. doi: 10.1001/archneur.58.11.1821. Arch Neurol. 2001. PMID: 11708990 Free article.

4

Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: trapping early oligomers of non-expanded ataxin-3.

Gales L, Cortes L, Almeida C, Melo CV, Costa MC, Maciel P, Clarke DT, Damas AM, Macedo-Ribeiro S. Gales L, et al. Among authors: maciel p. J Mol Biol. 2005 Oct 28;353(3):642-54. doi: 10.1016/j.jmb.2005.08.061. J Mol Biol. 2005. PMID: 16194547

5

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Costa MC, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P. Costa MC, et al. Among authors: maciel p. Neurogenetics. 2005 Dec;6(4):209-15. doi: 10.1007/s10048-005-0013-1. Epub 2005 Oct 12. Neurogenetics. 2005. PMID: 16220345

6

Population genetics of wild-type CAG repeats in the Machado-Joseph disease gene in Portugal.

Lima M, Costa MC, Montiel R, Ferro A, Santos C, Silva C, Bettencourt C, Sousa A, Sequeiros J, Coutinho P, Maciel P. Lima M, et al. Among authors: maciel p. Hum Hered. 2005;60(3):156-63. doi: 10.1159/000090035. Epub 2005 Dec 6. Hum Hered. 2005. PMID: 16340213

7

The CAG repeat at the Huntington disease gene in the Portuguese population: insights into its dynamics and to the origin of the mutation.

Costa MDC, Magalhães P, Guimarães L, Maciel P, Sequeiros J, Sousa A. Costa MDC, et al. Among authors: maciel p. J Hum Genet. 2006;51(3):189-195. doi: 10.1007/s10038-005-0343-8. Epub 2005 Dec 22. J Hum Genet. 2006. PMID: 16372132

8

Evidence for abnormal early development in a mouse model of Rett syndrome.

Santos M, Silva-Fernandes A, Oliveira P, Sousa N, Maciel P. Santos M, et al. Among authors: maciel p. Genes Brain Behav. 2007 Apr;6(3):277-86. doi: 10.1111/j.1601-183X.2006.00258.x. Epub 2006 Jul 17. Genes Brain Behav. 2007. PMID: 16848781 Free article.

9

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.

10

Functional genomics and biochemical characterization of the C. elegans orthologue of the Machado-Joseph disease protein ataxin-3.

Rodrigues AJ, Coppola G, Santos C, Costa Mdo C, Ailion M, Sequeiros J, Geschwind DH, Maciel P. Rodrigues AJ, et al. Among authors: maciel p. FASEB J. 2007 Apr;21(4):1126-36. doi: 10.1096/fj.06-7002com. Epub 2007 Jan 18. FASEB J. 2007. PMID: 17234717

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