Martins S - Search Results

1

Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease.

Akçimen F, Martins S, Liao C, Bourassa CV, Catoire H, Nicholson GA, Riess O, Raposo M, França MC, Vasconcelos J, Lima M, Lopes-Cendes I, Saraiva-Pereira ML, Jardim LB, Sequeiros J, Dion PA, Rouleau GA. Akçimen F, et al. Among authors: martins s. Aging (Albany NY). 2020 Mar 23;12(6):4742-4756. doi: 10.18632/aging.102825. Epub 2020 Mar 23. Aging (Albany NY). 2020. PMID: 32205469 Free PMC article.

2

Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin.

Martins S, Matamá T, Guimarães L, Vale J, Guimarães J, Ramos L, Coutinho P, Sequeiros J, Silveira I. Martins S, et al. Eur J Hum Genet. 2003 Oct;11(10):808-11. doi: 10.1038/sj.ejhg.5201054. Eur J Hum Genet. 2003. PMID: 14512972

3

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. 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

4

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus.

Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A. Martins S, et al. Eur J Hum Genet. 2006 Aug;14(8):932-40. doi: 10.1038/sj.ejhg.5201643. Epub 2006 May 17. Eur J Hum Genet. 2006. PMID: 16724006

5

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease.

Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Dürr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J. Martins S, et al. Arch Neurol. 2007 Oct;64(10):1502-8. doi: 10.1001/archneur.64.10.1502. Arch Neurol. 2007. PMID: 17923634

6

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease.

Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A. Martins S, et al. Am J Med Genet B Neuropsychiatr Genet. 2008 Jun 5;147B(4):439-46. doi: 10.1002/ajmg.b.30624. Am J Med Genet B Neuropsychiatr Genet. 2008. PMID: 17948873

7

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: martins s. PLoS One. 2009;4(2):e4553. doi: 10.1371/journal.pone.0004553. Epub 2009 Feb 23. PLoS One. 2009. PMID: 19234597 Free PMC article.

8

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: martins s. 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

9

Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis.

Daoud H, Belzil V, Martins S, Sabbagh M, Provencher P, Lacomblez L, Meininger V, Camu W, Dupré N, Dion PA, Rouleau GA. Daoud H, et al. Among authors: martins s. Arch Neurol. 2011 Jun;68(6):739-42. doi: 10.1001/archneurol.2011.111. Arch Neurol. 2011. PMID: 21670397

10

Epidemiology and population genetics of degenerative ataxias.

Sequeiros J, Martins S, Silveira I. Sequeiros J, et al. Among authors: martins s. Handb Clin Neurol. 2012;103:227-51. doi: 10.1016/B978-0-444-51892-7.00014-0. Handb Clin Neurol. 2012. PMID: 21827892 Review. No abstract available.

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