Maciel P - Search Results

1

Increased transcript diversity: novel splicing variants of Machado-Joseph disease gene (ATXN3).

Bettencourt C, Santos C, Montiel R, Costa Mdo C, Cruz-Morales P, Santos LR, Simões N, Kay T, Vasconcelos J, Maciel P, Lima M. Bettencourt C, et al. Among authors: maciel p. Neurogenetics. 2010 May;11(2):193-202. doi: 10.1007/s10048-009-0216-y. Epub 2009 Aug 28. Neurogenetics. 2010. PMID: 19714377

2

Prenatal diagnosis of Machado-Joseph disease by direct mutation analysis.

Sequeiros J, Maciel P, Taborda F, Lêdo S, Rocha JC, Lopes A, Reto F, Fortuna AM, Rousseau M, Fleming M, Coutinho P, Rouleau GA, Jorge CS. Sequeiros J, et al. Among authors: maciel p. Prenat Diagn. 1998 Jun;18(6):611-7. Prenat Diagn. 1998. PMID: 9664608

3

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.

4

Ancestral origins of the Machado-Joseph disease mutation: a worldwide haplotype study.

Gaspar C, Lopes-Cendes I, Hayes S, Goto J, Arvidsson K, Dias A, Silveira I, Maciel P, Coutinho P, Lima M, Zhou YX, Soong BW, Watanabe M, Giunti P, Stevanin G, Riess O, Sasaki H, Hsieh M, Nicholson GA, Brunt E, Higgins JJ, Lauritzen M, Tranebjaerg L, Volpini V, Wood N, Ranum L, Tsuji S, Brice A, Sequeiros J, Rouleau GA. Gaspar C, et al. Among authors: maciel p. Am J Hum Genet. 2001 Feb;68(2):523-8. doi: 10.1086/318184. Epub 2000 Dec 20. Am J Hum Genet. 2001. PMID: 11133357 Free PMC article.

5

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.

6

Genomic structure, promoter activity, and developmental expression of the mouse homologue of the Machado-Joseph disease (MJD) gene.

Costa MC, Gomes-da-Silva J, Miranda CJ, Sequeiros J, Santos MM, Maciel P. Costa MC, et al. Among authors: maciel p. Genomics. 2004 Aug;84(2):361-73. doi: 10.1016/j.ygeno.2004.02.012. Genomics. 2004. PMID: 15233999 Free PMC article.

7

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

8

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

9

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

10

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.

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