Alonso I - Search Results

1

Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10).

Almeida T, Alonso I, Martins S, Ramos EM, Azevedo L, Ohno K, Amorim A, Saraiva-Pereira ML, Jardim LB, Matsuura T, Sequeiros J, Silveira I. Almeida T, et al. Among authors: alonso i. PLoS One. 2009;4(2):e4553. doi: 10.1371/journal.pone.0004553. Epub 2009 Feb 23. PLoS One. 2009. PMID: 19234597 Free PMC article.

2

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: alonso 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

3

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. Neurology. 2006 May 23;66(10):1602-4. doi: 10.1212/01.wnl.0000216266.30177.bb. Neurology. 2006. PMID: 16717236 No abstract available.

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. Arch Neurol. 2003 Apr;60(4):610-4. doi: 10.1001/archneur.60.4.610. Arch Neurol. 2003. PMID: 12707077 Free article.

5

Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.

Ramos EM, Gillis T, Mysore JS, Lee JM, Gögele M, D'Elia Y, Pichler I, Sequeiros J, Pramstaller PP, Gusella JF, MacDonald ME, Alonso I. Ramos EM, et al. Among authors: alonso i. Am J Med Genet B Neuropsychiatr Genet. 2015 Mar;168B(2):135-43. doi: 10.1002/ajmg.b.32289. Epub 2015 Feb 5. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 25656686 Free PMC article.

6

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus.

Silveira I, Miranda C, Guimarães L, Moreira MC, Alonso I, Mendonça P, Ferro A, Pinto-Basto J, Coelho J, Ferreirinha F, Poirier J, Parreira E, Vale J, Januário C, Barbot C, Tuna A, Barros J, Koide R, Tsuji S, Holmes SE, Margolis RL, Jardim L, Pandolfo M, Coutinho P, Sequeiros J. Silveira I, et al. Among authors: alonso i. Arch Neurol. 2002 Apr;59(4):623-9. doi: 10.1001/archneur.59.4.623. Arch Neurol. 2002. PMID: 11939898

7

Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil.

Gheno TC, Furtado GV, Saute JAM, Donis KC, Fontanari AMV, Emmel VE, Pedroso JL, Barsottini O, Godeiro-Junior C, van der Linden H, Ternes Pereira E, Cintra VP, Marques W Jr, de Castilhos RM, Alonso I, Sequeiros J, Cornejo-Olivas M, Mazzetti P, Leotti VB, Jardim LB, Saraiva-Pereira ML; Rede Neurogenetica. Gheno TC, et al. Among authors: alonso i. Eur J Neurol. 2017 Jul;24(7):892-e36. doi: 10.1111/ene.13281. Epub 2017 May 31. Eur J Neurol. 2017. PMID: 28560845

8

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. 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

9

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: alonso 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.

10

Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study.

Coutinho P, Ruano L, Loureiro JL, Cruz VT, Barros J, Tuna A, Barbot C, Guimarães J, Alonso I, Silveira I, Sequeiros J, Marques Neves J, Serrano P, Silva MC. Coutinho P, et al. Among authors: alonso i. JAMA Neurol. 2013 Jun;70(6):746-55. doi: 10.1001/jamaneurol.2013.1707. JAMA Neurol. 2013. PMID: 23609960

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