Silveira I - Search Results

1

'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ. García-Murias M, et al. Among authors: silveira i. Brain. 2012 May;135(Pt 5):1423-35. doi: 10.1093/brain/aws069. Epub 2012 Apr 3. Brain. 2012. PMID: 22492559 Free PMC article.

2

A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.

Seixas AI, Loureiro JR, Costa C, Ordóñez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandão E, Cruz VT, Timóteo A, Quintáns B, Rouleau GA, Rizzu P, Carracedo Á, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I. Seixas AI, et al. Among authors: silveira i. Am J Hum Genet. 2017 Jul 6;101(1):87-103. doi: 10.1016/j.ajhg.2017.06.007. Am J Hum Genet. 2017. PMID: 28686858 Free PMC article.

3

A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14.

Alonso I, Costa C, Gomes A, Ferro A, Seixas AI, Silva S, Cruz VT, Coutinho P, Sequeiros J, Silveira I. Alonso I, et al. Among authors: silveira i. J Hum Genet. 2005;50(10):523-529. doi: 10.1007/s10038-005-0287-z. Epub 2005 Sep 28. J Hum Genet. 2005. PMID: 16189624

4

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

Alonso I, Barros J, Tuna A, Coelho J, Sequeiros J, Silveira I, Coutinho P. Alonso I, et al. Among authors: silveira i. Arch Neurol. 2003 Apr;60(4):610-4. doi: 10.1001/archneur.60.4.610. Arch Neurol. 2003. PMID: 12707077 Free article.

5

Haplotype diversity and somatic instability in normal and expanded SCA8 alleles.

Martins S, Seixas AI, Magalhães P, Coutinho P, Sequeiros J, Silveira I. Martins S, et al. Among authors: silveira i. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):109-14. doi: 10.1002/ajmg.b.30235. Am J Med Genet B Neuropsychiatr Genet. 2005. PMID: 16184604

6

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).

Ramos EM, Martins S, Alonso I, Emmel VE, Saraiva-Pereira ML, Jardim LB, Coutinho P, Sequeiros J, Silveira I. Ramos EM, et al. Among authors: silveira i. Am J Med Genet B Neuropsychiatr Genet. 2010 Mar 5;153B(2):524-531. doi: 10.1002/ajmg.b.31013. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 19676102

7

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.

Seixas AI, Vale J, Jorge P, Marques I, Santos R, Alonso I, Fortuna AM, Pinto-Basto J, Coutinho P, Margolis RL, Sequeiros J, Silveira I. Seixas AI, et al. Among authors: silveira i. Behav Brain Funct. 2011 Jun 3;7:19. doi: 10.1186/1744-9081-7-19. Behav Brain Funct. 2011. PMID: 21639881 Free PMC article.

8

A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37.

Loureiro JR, Oliveira CL, Sequeiros J, Silveira I. Loureiro JR, et al. Among authors: silveira i. J Hum Genet. 2018 Sep;63(9):981-987. doi: 10.1038/s10038-018-0474-3. Epub 2018 Jun 11. J Hum Genet. 2018. PMID: 29891931

9

Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10.

Alonso I, Jardim LB, Artigalas O, Saraiva-Pereira ML, Matsuura T, Ashizawa T, Sequeiros J, Silveira I. Alonso I, et al. Among authors: silveira i. Neurology. 2006 May 23;66(10):1602-4. doi: 10.1212/01.wnl.0000216266.30177.bb. Neurology. 2006. PMID: 16717236 No abstract available.

10

Autosomal dominant cerebellar ataxia: frequency analysis and clinical characterization of 45 families from Portugal.

Vale J, Bugalho P, Silveira I, Sequeiros J, Guimarães J, Coutinho P. Vale J, et al. Among authors: silveira i. Eur J Neurol. 2010 Jan;17(1):124-8. doi: 10.1111/j.1468-1331.2009.02757.x. Epub 2009 Jul 29. Eur J Neurol. 2010. PMID: 19659750

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