Costa MC - Search Results

1

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population.

Sequeiros J, Ramos EM, Cerqueira J, Costa MC, Sousa A, Pinto-Basto J, Alonso I. Sequeiros J, et al. Among authors: costa mc. Clin Genet. 2010 Oct;78(4):381-7. doi: 10.1111/j.1399-0004.2010.01388.x. Clin Genet. 2010. PMID: 20236117

2

Molecular diagnosis of Huntington disease in Portugal: implications for genetic counselling and clinical practice.

Costa MC, Magalhães P, Ferreirinha F, Guimarães L, Januário C, Gaspar I, Loureiro L, Vale J, Garrett C, Regateiro F, Magalhães M, Sousa A, Maciel P, Sequeiros J. Costa MC, et al. Eur J Hum Genet. 2003 Nov;11(11):872-8. doi: 10.1038/sj.ejhg.5201055. Eur J Hum Genet. 2003. PMID: 14571273

3

Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population.

Costa MC, Sequeiros J, Maciel P. Costa MC, et al. J Hum Genet. 2002;47(4):205-7. doi: 10.1007/s100380200025. J Hum Genet. 2002. PMID: 12166658

4

Genotypes at the APOE and SCA2 loci do not predict the course of multiple sclerosis in patients of Portuguese origin.

Santos M, Costa MC, Edite Rio M, José Sá M, Monteiro M, Valença A, Sá A, Dinis J, Figueiredo J, Bigotte de Almeida L, Valongueiro A, Coelho I, Matamá MT, Pinto-Basto J, Sequeiros J, Maciel P. Santos M, et al. Among authors: costa mc. Mult Scler. 2004 Apr;10(2):153-7. doi: 10.1191/1352458504ms998oa. Mult Scler. 2004. PMID: 15124760 Free 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. Among authors: costa mc. Arch Neurol. 2001 Nov;58(11):1821-7. doi: 10.1001/archneur.58.11.1821. Arch Neurol. 2001. PMID: 11708990 Free article.

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: costa mc. Hum Hered. 2005;60(3):156-63. doi: 10.1159/000090035. Epub 2005 Dec 6. Hum Hered. 2005. PMID: 16340213

7

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. Genomics. 2004 Aug;84(2):361-73. doi: 10.1016/j.ygeno.2004.02.012. Genomics. 2004. PMID: 15233999 Free PMC article.

8

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: costa c. Neurogenetics. 2005 Dec;6(4):209-15. doi: 10.1007/s10048-005-0013-1. Epub 2005 Oct 12. Neurogenetics. 2005. PMID: 16220345

9

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement.

Maciel P, Cruz VT, Constante M, Iniesta I, Costa MC, Gallati S, Sousa N, Sequeiros J, Coutinho P, Santos MM. Maciel P, et al. Among authors: costa mc. Neurology. 2005 Aug 23;65(4):603-5. doi: 10.1212/01.wnl.0000178224.81169.c2. Neurology. 2005. PMID: 16116125 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. 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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