1. Martins S, Costa IPD, Giunti P, Watanabe M, Sasaki H, Almeida BC, Amorim A, Gaspar C, Nicholson G, Saraiva-Pereira ML, Tsuji S, Li Q, Chen S, Landoure G, Maciel P, Zaltzman R, Sharony R, Zhou Y, Barros J, Loureiro JL, Cruz VT, Ruano L, Brunt ERP, Corral-Juan MM, Hsieh M, Tranebjaerg L, Olajumoke O, Ogun SA, Finkel MF, Gordon C, Cornejo-Olivas M, Fischbeck K, Matilla-Duenas A, Volpini V, Riess O, Wu Z, Rouleau GA, Jardim LB, Stevanin G, Brice A, Coutinho P, Soong B, Ranum LP, Durr A, Sequeiros J

Prevalence of Machado-Joseph disease (MJD/SCA3) explained by migration and multiple founder effects European journal of human genetics : EJHG 28: 402-403, 2020. [Meeting Abstract] 

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2. Martins S, Sequeiros J

Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events. Advances in experimental medicine and biology 1049: 243-254, 2018. [Article; Book Chapter] 

 doi: 10.1007/978-3-319-71779-1_12 PMID: 29427107.

 

3. Martins S, Sharony R, Costa IPD, Zaltzman R, Amorim A, Sequeiros J, Gordon CR

Jewish MJD patients of Yemenite descent share a recent common ancestor EUROPEAN JOURNAL OF NEUROLOGY 25: 263-263, 2018. [Meeting Abstract] 

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4. Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA

Modifiers of (CAG)n instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes. Human genetics 133: 1311-8, 2014. [Article] 

 doi: 10.1007/s00439-014-1467-8 PMID: 25026993.

 

5. Martins S, Soong BW, Wong VC, Giunti P, Stevanin G, Ranum LP, Sasaki H, Riess O, Tsuji S, Coutinho P, Amorim A, Sequeiros J, Nicholson GA

Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala. Archives of neurology 69: 746-51, 2012. [Article] 

 doi: 10.1001/archneurol.2011.2504 PMID: 22351852.

 

6. Martins S, Coutinho P, Silveira I, Giunti P, Jardim LB, Calafell F, Sequeiros J, Amorim A

Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease. Am J Med Genet B Neuropsychiatr Genet 147B: 439-46, 2008. [Article] 

 doi: 10.1002/ajmg.b.30624 PMID: 17948873.

 

7. 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

Asian origin for the worldwide-spread mutational event in Machado-Joseph disease. Archives of neurology 64: 1502-8, 2007. [Article] 

 doi: 10.1001/archneur.64.10.1502 PMID: 17923634.

 

8. Martins S, Calafell F, Wong VC, Sequeiros J, Amorim A

A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus. European journal of human genetics : EJHG 14: 932-40, 2006. [Article] 

 doi: 10.1038/sj.ejhg.5201643 PMID: 16724006.

 

9. Martins S, Trigo F, Azevedo L, Silva MJ, Guimaraes JE, Amorim A

Haplotype study of microsatellites flanking the t(15;17) breakpoint in acute promyelocytic leukemia patients from North Portugal. Leukemia 16: 1353-7, 2002. [Article] 

 doi: 10.1038/sj.leu.2402525 PMID: 12094260.

 

1. González RD, Gomes I, Gomes C, Rocha R, Durães L, Sousa P, Figueruelo M, Rodríguez M, Pita C, Hornero R, Gómez C, Lopes AM, Pinto N, Martins S

APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol. Genes 12: ., 2020. [Article] 

 doi: 10.3390/genes12010004 PMID: 33375167.

 

2. Costa IPD, Almeida BC, Sequeiros J, Amorim A, Martins S

A Pipeline to Assess Disease-Associated Haplotypes in Repeat Expansion Disorders: The Example of MJD/SCA3 Locus. Frontiers in genetics 10: 38, 2019. [Article] 

 doi: 10.3389/fgene.2019.00038 PMID: 30804982.

 

3. Maia N, Loureiro JR, Oliveira B, Marques I, Santos R, Jorge P, Martins S

Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? Journal of human genetics 62: 269-275, 2017. [Article] 

 doi: 10.1038/jhg.2016.122 PMID: 27784894.

 

4. Santos D, Pimenta J, Wong VC, Amorim A, Martins S

Diversity in the androgen receptor CAG repeat has been shaped by a multistep mutational mechanism. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 165: 581-6, 2014. [Article] 

 doi: 10.1002/ajmg.b.32261 PMID: 25078541.