Sandra Martins
Name: Sandra Martins
Academic Degree: PhD

Sandra Martins
Sandra Martins
Member of
Investigador Auxiliar of Population Genetics

Short CV
Name: Sandra Cristina da Silva Martins
Nationality: Portuguese
Institutional address: Ipatimup, Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal
Telephone/Fax: (+351)225570700/(+351)225570799

2014-present Researcher at IPATIMUP; FCT Investigator Programme.

2012-2013 Post-doc at Ipatimup. Research project: “Ataxin genes: evolution and functional divergence of paralogues”. Supervisors: A. Amorim, Ipatimup; P. Breuer, University of Bonn.

2007-2012 Post-doc at Ipatimup. Research project: “Molecular mechanisms of instability in CAG repeat loci”. Supervisors: A. Amorim, Ipatimup; J. Sequeiros, IBMC; G.A. Rouleau, Univ. Montréal.

2003-2007 PhD student. Research project: “Evolutionary and epidemiological genetics of Machado-Joseph disease”. Supervisors: A. Amorim, Ipatimup; J. Sequeiros, IBMC; F. Calafell, Univ. Pompeu Fabra.

Evolution of highly conserved paralogous of genes responsible for ataxia

Search for genetic modifiers on MJD clinical presentation

Mechanisms of “de novo” expansions and mutational processes of intergenerational instability in repeat-associated disorders

Genetic epidemiology of spinocerebellar ataxias: mutations' history, ancestral backgrounds, populations-of-origin, mutations' age and routes of dispersal

Evolution of normal alleles at repetitive loci

Supervisor of
Daniela Felício, External Researcher
PhD student

PI (running)

PI (closed)
First Author
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] 
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] 
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] 
4. Martins S, Pearson CE, Coutinho P, Provost S, Amorim A, Dubé MP, Sequeiros J, Rouleau GA
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
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] 
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] 
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] 
9. Martins S, Trigo F, Azevedo L, Silva MJ, Guimaraes JE, Amorim A
Senior Author
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
2. Costa IPD, Almeida BC, Sequeiros J, Amorim A, Martins S
3. Maia N, Loureiro JR, Oliveira B, Marques I, Santos R, Jorge P, Martins S
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] 
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