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Identification

Personal identification

Full name
Sandra Martins

Citation names

  • Martins, Sandra
  • Martins, S.

Author identifiers

Ciência ID
B51F-6224-3D90
ORCID iD
0000-0002-3720-2920

Email addresses

  • smartins@ipatimup.pt (Professional)
  • smartins@i3s.up.pt (Professional)

Telephones

Telephone
  • 220408800 Ext.: 6151 (Professional)

Addresses

  • i3S, Rua Alfredo Allen, 208, 4200-135, Porto, Porto, Portugal (Professional)

Websites

Knowledge fields

  • Natural sciences - Biological Sciences - Evolutionary Biology
  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Natural sciences - Biological Sciences - Genetics and Heredity
  • Medical and Health Sciences - Basic Medicine - Neurosciences
Education
Degree Classification
2007
Concluded
 Doutoramento (Doutoramento)
Universidade do Porto Faculdade de Ciências, Portugal
"Evolutionary and epidemiological genetics of Machado-Joseph disease" (THESIS/DISSERTATION)
 Aprovada por unanimidade
Affiliation

Science

Category
Host institution 		Employer
2014/01/01 - Current Auxiliary Researcher (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2007/08 - 2013/12/31 Postdoc (Research) Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal
Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Teaching in Higher Education

Category
Host institution 		Employer
2011/09/01 - Current Invited Assistant Professor (University Teacher) Universidade do Porto Faculdade de Ciências, Portugal
Universidade do Porto Faculdade de Ciências, Portugal
Projects

Contract

Designation Funders
2023/03/01 - 2026/02/28 Uma abordagem multimodal para aprofundar a compreensão da doença de Alzheimer
2022.04734.PTDC
10.54499/2022.04734.PTDC
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universidad de Valladolid, Spain
Fundação para a Ciência e a Tecnologia
Ongoing
2023/03/12 - 2025/03/11 Evolution and functional activity of gene paralogues in spinocerebellar ataxias
2022.04896.PTDC
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
2019 - 2022/12/31 Análisis y correlación entre la epigenética y la actividad cerebral para evaluar el riesgo de migraña crónica y episódica en mujeres.
0702_MIGRAINEE_2_E
Researcher
European Regional Development Fund, Belgium
 European Regional Development Fund
Concluded
2017 - 2020/06/30 Análisis y correlación entre el genoma completo y la actividad cerebral para la ayuda en el diagnóstico de la enfermedad de Alzheimer
0378_AD_EEGWA_2_P
Researcher
European Regional Development Fund, Belgium
 European Regional Development Fund
Concluded
2016/05 - 2019/12 Porto Neurosciences and Neurologic Disease Research Initiative at i3S: WP11-Machado-Joseph disease
Norte-01-0145-FEDER-000008
Principal investigator
European Regional Development Fund
Concluded
2014/01/01 - 2018/12/31 Modifiers of Machado-Joseph disease: study of ataxin-3 like and josephin domain containing proteins
IF/00930/2013/CP1184/CT0002
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2009 - 2012/12/31 Clinical implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction
PIC/IC/82897/2007
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2001/09/01 - 2002/11/30 Genetics and Pathogenic Mechanisms of Dominant Ataxias
POCTI/1999/MGI/34517
Scientific Initiation Fellow
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Book chapter
  1. Maturana-Candelas, A.; Gómez, C.; Poza, J.; Ruiz-Gómez, S.J.; Núñez, P.; Rodríguez, M.; Figueruelo, M.; et al. "Analysis of Spontaneous EEG Activity in Alzheimer’s Disease Patients by Means of Multiscale Spectral Entropy". In Converging Clinical and Engineering Research on Neurorehabilitation III, 579-583. Springer, 2018.
    Published • 10.1007/978-3-030-01845-0_116
  2. Martins, Sandra; Sequeiros, Jorge. "Origins and Spread of Machado-Joseph Disease Ancestral Mutations Events". In Advances in Experimental Medicine and Biology, 243-254. Springer International Publishing, 2018.
    10.1007/978-3-319-71779-1_12
  3. Sequeiros, J.; Martins, S.; Silveira, I.. "Epidemiology and population genetics of degenerative ataxias". In Handbook of Clinical Neurology, edited by Sankara H. Subramony; Alexandra Dürr, 227-251. Elsevier, 2012.
    Published • 10.1016/B978-0-444-51892-7.00014-0
Conference abstract
  1. Tanguy Rubat du Mérac; Felício, Daniela; Amorim, Antonio; Martins, Sandra. "Assessment of the potential functional role of paralog genes in polyglutamine spinocerebellar ataxias". Paper presented in 56th European Human Genetics (ESHG) Conference, Glasgow, 2024.
    Accepted • 10.1038/s41431-023-01481-y
  2. Felício, Daniela; Martins, Maria Inês; Pinto, Andreia; Costa, Inês P D; Amorim, Antonio; Lopes, Alexandra; Seixas, Susana; Martins, Sandra. "Evolutionary history and gene expression of ataxin-3 paralogs". Paper presented in 27th Annual Meeting of the Portuguese Society of Human Genetics (SPGH - Sociedade Portuguesa de Genética Humana), Lisbon, 2024.
    Accepted
  3. Felício, Daniela; Martins, Sandra; Santos, Mariana; Lopes, Alexandra; Lemos, Carolina; Pinto, Nadia; Alves-Ferreira, Miguel. "Integrating functional genomic data to prioritize candidate non-coding variants in migraine susceptibility". Paper presented in 26th Annual Meeting of SPGH (Sociedade Portuguesa de Genética Humana), Coimbra, 2023.
    Published • 10.1097/MD.0000000000033154
  4. Felício, Daniela; Martins, Sandra; Santos, Mariana; Lopes, Alexandra; Lemos, Carolina; Pinto, Nádia; Alves-Ferreira, Miguel. "Candidate regulatory variants in SNARE complex genes and their involvement in migraine susceptibility". Paper presented in 55th European Society of Human Genetics (ESHG) Conference, 2023.
    Accepted
Conference paper
  1. Macedo, AM; Gomes, Iva; Martins, Sandra; Durães, Luís; Sousa, P; Figueruelo, F; Rodríguez, M; et al. "Genome-wide characterization of a cohort of Alzheimer’s patients from Iberia: a focus on rare variants". Paper presented in 23rd SPGH Meeting - Portuguese Society for Human Genetics, Coimbra, 2019.
    Accepted
Conference poster
  1. Carvalho, Estefânia; Dias, Andreia; Guerrero, Ángel L.; Gómez, Carlos; Sousa, Alda; Lopes, Alexandra; Martins, Sandra; et al. "RAMP1 promoter methylation status in Portuguese and Spanish women with migraine". Paper presented in 26th Annual Meeting of the Portuguese Society of Human Genetics, 2022.
  2. Carvalho, Estefânia; Dias, Andreia; Sousa, Alda; Sequeiros, Jorge; Alexandra M. Lopes; Martins, Sandra; Pinto, Nadia; Lemos, Carolina; Alves-Ferreira, Miguel. "Role of Epigenetics in Migraine: Methylation Levels in the CGRP’s Receptors". Paper presented in Migraine Trust International Symposium, 2022.
  3. Carvalho, Estefânia; Dias, Andreia; Sousa, Alda; Lopes, Alexandra; Martins, Sandra; Pinto, Nadia; Lemos, Carolina; Alves-Ferreira, Miguel. "RAMP1 gene promoter and female migraine susceptibility: new clues in epigenetic processes". Paper presented in European Society of Human Genetics Conference, 2022.
  4. Carvalho, Estefânia; Dias, Andreia; Sousa, Alda; Sequeiros, Jorge; Lopes, Alexandra; Martins, Sandra; Pinto, Nadia; Lemos, Carolina; Alves-Ferreira, Miguel. "Receptor activity modifying protein 1 (RAMP1) gene promoter methylation is associated with female migraine susceptibility". Paper presented in 19th Portugaliæ Genetica, 2022.
  5. Felício, Daniela; Martins, Sandra; Santos, Mariana; Lopes, Alexandra; Lemos, Carolina; Pinto, Nádia; Alves-Ferreira, Miguel. "Selection of variants in SNARE complex genes to study their impact on gene expression and migraine susceptibility". Paper presented in 19th Portugaliae Genetica, 2022.
  6. Carvalho, Estefânia; Dias, Andreia; Sousa, Alda; Sequeiros, Jorge; Lopes, Alexandra; Martins, Sandra; Pinto, Nadia; Lemos, Carolina; Alves-Ferreira, Miguel. "Methylation at a CpG site in RAMP1 promoter is associated with migraine". Paper presented in Brain Conference, 2022.
  7. Carvalho, Estefânia; Dias, Andreia; Sousa, Alda; Sequeiros, Jorge; Lopes, Alexandra; Martins, Sandra; Pinto, Nadia; Lemos, Carolina; Alves-Ferreira, Miguel. "Epigenetic Analysis of the CGRP Pathway Genes Involved in Migraine". Paper presented in 25th Annual Meeting of the Portuguese Society of Human Genetics, 2021.
  8. Loureiro, Joana R; Oliveira, Cláudia L.; Mota, Carolina; Castro, Ana Filipa; Costa, Cristina; Loureiro, José L.; Coutinho, Paula; et al. "Genetic characterization of the Spinocerebellar Ataxia Type 37 locus and mutational mechanism for the birth of DAB1 pathogenic alleles". Paper presented in International Meeting of the Portuguese Society of Genetics 2020 (IMPSG-2020), January 23-24 2020 Faro (https://impsg2020.wixsite.com/impsg2020), 2020.
  9. Loureiro, Joana R; Oliveira, Cláudia L.; Mota, Carolina; Castro, Ana Filipa; Costa, Cristina; Loureiro, José L.; Coutinho, Paula; et al. "Origin of DAB1 (ATTTC)n insertion and repeat instability in spinocerebellar ataxia type 37". Paper presented in 23º Reunião Anual Sociedade Portuguesa de Genética Humana (SPGH), November 14-16 2019, Coimbra (http://spgh.net/reuniao-anual/23a-reuniao/), 2019.
  10. Costa, Inês P. D.; Martins, Sandra. "Are MJD proteases playing a role in Machado-Joseph disease by compensating the partial loss-of-function of ATXN3?". Paper presented in 18th Portugaliæ Genetica, 2018.
  11. Costa, Inês P. D.; Martins, Sandra. "ATXN3L: Can an assumed pseudogene compensate partial loss-of-function of normal ATXN3 in Machado-Joseph disease (MJD/SCA3)?". Paper presented in The European Human Genetics, 2017.
  12. Maia, Nuno; Loureiro, Joana R; Oliveira, Barbara; Marques, Isabel; Santos, Rosário; Jorge, Paula; Martins, Sandra. "Are pure normal FMR1 alleles originated from contractions of expanded repeats?". Paper presented in 17th meeting Portugaliae Genetics, Porto, Portugal, 2016.
  13. Pimenta, João; Santos, Diana; Gusmão, Leonor; Amorim, António; Martins, Sandra. "The evolution of normal CAG alleles at AR locus conforms a stepwise mutation model". Paper presented in Portugaliae Genetica 14th, 2011.
Journal article
  1. Felício, Daniela; Martins, Sandra; Alves, Guilherme Pimenta; Amorim, António; Macedo-Ribeiro, Sandra; Merski, Matthew. "Evolutionary model of repeat insertions in Ataxin-3 traces the origin of the polyglutamine stretch to an ancestral ubiquitin binding module". Protein Science 33 12 (2024): http://dx.doi.org/10.1002/pro.5236.
    Published • 10.1002/pro.5236
  2. Felício, Daniela; Alves-Ferreira, Miguel; Santos, Mariana; Quintas, Marlene; Lopes, Alexandra M; Lemos, Carolina; Pinto, Nádia; Martins, Sandra. "Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease". Briefings in Functional Genomics 23 2 (2024): 138-149. http://dx.doi.org/10.1093/bfgp/elad020.
    Published • 10.1093/bfgp/elad020
  3. Martins, Sandra; Yahia, Ashraf; Costa, Inês P. D.; Siddig, Hassab E.; Abubaker, Rayan; Koko, Mahmoud; Corral-Juan, Marc; et al. "Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage". Human Genetics 142 12 (2023): 1747-1754. http://dx.doi.org/10.1007/s00439-023-02611-8.
    10.1007/s00439-023-02611-8
  4. Felício, Daniela; du Mérac, Tanguy Rubat; Amorim, António; Martins, Sandra. "Functional implications of paralog genes in polyglutamine spinocerebellar ataxias". Human Genetics 142 12 (2023): 1651-1676. http://dx.doi.org/10.1007/s00439-023-02607-4.
    Published • 10.1007/s00439-023-02607-4
  5. Felício, Daniela; Dias, Andreia; Martins, Sandra; Carvalho, Estefânia; Lopes, Alexandra M.; Pinto, Nádia; Lemos, Carolina; Santos, Mariana; Alves-Ferreira, Miguel. "Non-coding variants in VAMP2 and SNAP25 affect gene expression: potential implications in migraine susceptibility". The Journal of Headache and Pain 24 1 (2023): 78. http://dx.doi.org/10.1186/s10194-023-01615-z.
    10.1186/s10194-023-01615-z
  6. Melo, Ana Rosa Vieira; Raposo, Mafalda; Ventura, Marta; Martins, Sandra; Pavão, Sara; Alonso, Isabel; Bettencourt, Conceição; Lima, Manuela. "Genetic Variation in ATXN3 (Ataxin-3) 3'UTR: Insights into the Downstream Regulatory Elements of the Causative Gene of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3". The Cerebellum 22 1 (2023): 37-45. http://dx.doi.org/10.1007/s12311-021-01358-0.
    10.1007/s12311-021-01358-0
  7. Carvalho, Estefânia; Dias, Andreia; Sousa, Alda; Lopes, Alexandra M.; Martins, Sandra; Pinto, Nádia; Lemos, Carolina; Alves-Ferreira, Miguel. "A High Methylation Level of a Novel -284 bp CpG Island in the RAMP1 Gene Promoter Is Potentially Associated with Migraine in Women". Brain Sciences 12 5 (2022): 526. http://dx.doi.org/10.3390/brainsci12050526.
    10.3390/brainsci12050526
  8. Macedo, Ana; Gómez, Carlos; Rebelo, Miguel Ângelo; Poza, Jesús; Gomes, Iva; Martins, Sandra; Maturana-Candelas, Aarón; et al. "Risk Variants in Three Alzheimer’s Disease Genes Show Association with EEG Endophenotypes". Journal of Alzheimer's Disease 80 1 (2021): 209-223. http://dx.doi.org/10.3233/jad-200963.
    Open access • 10.3233/jad-200963
  9. Rebelo, MA; Gómez, Carlos; Maturana-Candelas, A.; Martins, Sandra; Poza, J.; Ruiz-Gómez, S. J.; Figueruelo, M; et al. "Genome-wide scan for five brain oscillatory phenotypes identifies a new theta QTL". Frontiers in Genetics (2020):
    Submitted
  10. González, Ricardo D.; Gomes, Iva; Gomes, Catarina; Rocha, Rita; Durães, Luís; Sousa, Patrícia; Figueruelo, Manuel; et al. "APOE Variants in an Iberian Alzheimer Cohort Detected through an Optimized Sanger Sequencing Protocol". Genes 12 1 (2020): 4. http://dx.doi.org/10.3390/genes12010004.
    Open access • Published • 10.3390/genes12010004
  11. Rebelo, Miguel Ângelo; Gómez, Carlos; Gomes, Iva; Poza, Jesús; Martins, Sandra; Maturana-Candelas, Aarón; Ruiz-Gómez, Saúl J.; et al. "Genome-Wide Scan for Five Brain Oscillatory Phenotypes Identifies a New QTL Associated with Theta EEG Band". Brain Sciences 10 11 (2020): 870. http://dx.doi.org/10.3390/brainsci10110870.
    10.3390/brainsci10110870
  12. Gutiérrez-de Pablo, Víctor; Gómez, Carlos; Poza, Jesús; Maturana-Candelas, Aarón; Martins, Sandra; Gomes, Iva; Lopes, Alexandra M.; Pinto, Nádia; Hornero, Roberto. "Relationship between the Presence of the ApoE e4 Allele and EEG Complexity along the Alzheimer's Disease Continuum". Sensors 20 14 (2020): 3849. http://dx.doi.org/10.3390/s20143849.
    Open access • Published • 10.3390/s20143849
  13. Akçimen, Fulya; Martins, Sandra; Liao, Calwing; Bourassa, Cynthia V.; Catoire, Hélène; Nicholson, Garth A.; Riess, Olaf; et al. "Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease". Aging 12 6 (2020): 4742-4756. http://dx.doi.org/10.18632/aging.102825.
    Published • 10.18632/aging.102825
  14. Li, Tianjiao; Martins, Sandra; Peng, Yun; Wang, Puzhi; Hou, Xiaocan; Chen, Zhao; Wang, Chunrong; et al. "Is the High Frequency of Machado-Joseph Disease in China Due to New Mutational Origins?". Frontiers in Genetics 9 (2019): 740. http://dx.doi.org/10.3389/fgene.2018.00740.
    10.3389/fgene.2018.00740
  15. Loureiro, Joana R.; Oliveira, Cláudia L.; Mota, Carolina; Castro, Ana F.; Costa, Cristina; Loureiro, José L.; Coutinho, Paula; et al. "Mutational mechanism for DAB1 (ATTTC)n insertion in SCA37: ATTTT repeat lengthening and nucleotide substitution". Human Mutation 40 4 (2019): 404-412. http://dx.doi.org/10.1002/humu.23704.
    10.1002/humu.23704
  16. Costa, I.P.D.; Almeida, B.C.; 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 (2019): 38. http://www.scopus.com/inward/record.url?eid=2-s2.0-85065839386&partnerID=MN8TOARS.
    10.3389/fgene.2019.00038
  17. Sharony, R.*; Martins, S.*; Costa, I.P.D.; Zaltzman, R.; Amorim, A.; Sequeiros, J.; Gordon, C.R.. "Yemenite-Jewish families with Machado–Joseph disease (MJD/SCA3) share a recent common ancestor". European Journal of Human Genetics 27 11 (2019): 1731-1737. http://www.scopus.com/inward/record.url?eid=2-s2.0-85067380358&partnerID=MN8TOARS.
    10.1038/s41431-019-0449-7
  18. Chen, S; Martins, Sandra; Li, QF; Nicholson, Garth A.; Sequeiros, Jorge; Wu, ZY. "High diversity of MJD haplotypes in Eastern China: result of an ancient lineage or signature of new mutational origin(s)?". European Journal of Neurology 25 Suppl 2 (2018): 551. http://dx.doi.org/10.1111/ene.13697.
    Published • 10.1111/ene.13697
  19. Maia, N.; Loureiro, J.R.; 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 2 (2017): 269-275. http://www.scopus.com/inward/record.url?eid=2-s2.0-85010877200&partnerID=MN8TOARS.
    10.1038/jhg.2016.122
  20. Martins, Sandra. "Mutational origins of Machado-Joseph disease". International Journal of Clinical Neurosciences and Mental Health 3 Suppl 1 (2016): L24. http://ijcnmh.arc-publishing.org/editions/16.
    Published
  21. Maia, Nuno; Loureiro, J.R.; Oliveira, B.; Marques, I.; Santos, R.; Martins, Sandra; Jorge, P.. "UMIB Summit 2015. Origin of normal-size FMR1 alleles without AGG interspersions". Medicine 95 10 (2016): 16. http://europepmc.org/abstract/PMC/PMC4993095.
    Published • 10.1097/MD.0000000000002371
  22. Ogun, S.A.; Martins, S.; Adebayo, P.B.; Dawodu, C.O.; Sequeiros, J.; Finkel, M.F.. "Machado-Joseph disease in a Nigerian family: Mutational origin and review of the literature". European Journal of Human Genetics 23 2 (2015): 271-273. http://www.scopus.com/inward/record.url?eid=2-s2.0-84921354303&partnerID=MN8TOARS.
    10.1038/ejhg.2014.77
  23. Martins, S.; Pearson, C.E.; Coutinho, P.; Provost, S.; Amorim, A.; Dubé, M.P.; Sequeiros, J.; Rouleau, G.A.. "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 10 (2014): 1311-1318. http://www.scopus.com/inward/record.url?eid=2-s2.0-84910139166&partnerID=MN8TOARS.
    10.1007/s00439-014-1467-8
  24. Santos, D.; Pimenta, J.; Wong, V.C.; 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 165 7 (2014): 581-586. http://www.scopus.com/inward/record.url?eid=2-s2.0-84908308892&partnerID=MN8TOARS.
    10.1002/ajmg.b.32261
  25. Lima, A.; Seabra, V.; Martins, S.; Coelho, A.; Araújo, A.; Medeiros, R.. "Thymidylate synthase polymorphisms are associated to therapeutic outcome of advanced non-small cell lung cancer patients treated with platinum-based chemotherapy". Molecular Biology Reports 41 5 (2014): 3349-3357. http://www.scopus.com/inward/record.url?eid=2-s2.0-84905716777&partnerID=MN8TOARS.
    10.1007/s11033-014-3197-3
  26. Martins, S.; Soong, B.W.; Wong, V.C.; Giunti, P.; Stevanin, G.; Ranum, L.P.; Sasaki, H.; et al. "Mutational origin of Machado-Joseph disease in the Australian Aboriginal communities of Groote Eylandt and Yirrkala.". Archives of neurology 69 6 (2012): 746-751. http://www.scopus.com/inward/record.url?eid=2-s2.0-84865583213&partnerID=MN8TOARS.
    10.1001/archneurol.2011.2504
  27. Coutinho, M.; Encarnação, M.; Gomes, R.; da Silva Santos, L.; Martins, S.; Sirois-Gagnon, D.; Bargal, R.; et al. "Origin and spread of a common deletion causing mucolipidosis type II: Insights from patterns of haplotypic diversity". Clinical Genetics 80 3 (2011): 273-280. http://www.scopus.com/inward/record.url?eid=2-s2.0-79961115962&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2010.01539.x
  28. Daoud, H.; Belzil, V.; Martins, S.; Sabbagh, M.; Provencher, P.; Lacomblez, L.; Meininger, V.; et al. "Association of long ATXN2 CAG repeat sizes with increased risk of amyotrophic lateral sclerosis". Archives of Neurology 68 6 (2011): 739-742. http://www.scopus.com/inward/record.url?eid=2-s2.0-79958746230&partnerID=MN8TOARS.
    10.1001/archneurol.2011.111
  29. Ramos, E.M.; Martins, S.; Alonso, I.; Emmel, V.E.; Saraiva-Pereira, M.L.; Jardim, L.B.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)". American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 153 2 (2010): 524-531. http://www.scopus.com/inward/record.url?eid=2-s2.0-77349087351&partnerID=MN8TOARS.
    10.1002/ajmg.b.31013
  30. Almeida, Teresa; Alonso, Isabel; Martins, Sandra; Ramos, Eliana Marisa; Azevedo, Luísa; Ohno, Kinji; Amorim, António; et al. "Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)". PLoS ONE 4 2 (2009): e4553. http://dx.doi.org/10.1371/journal.pone.0004553.
    10.1371/journal.pone.0004553
  31. Martins, S.; Coutinho, P.; Silveira, I.; Giunti, P.; Jardim, L.B.; Calafell, F.; Sequeiros, J.; Amorim, A.. "Cis-acting factors promoting the CAG intergenerational instability in Machado-Joseph disease". American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 147 4 (2008): 439-446. http://www.scopus.com/inward/record.url?eid=2-s2.0-45149108691&partnerID=MN8TOARS.
    10.1002/ajmg.b.30624
  32. Martins, S.; Calafell, F.; Gaspar, C.; Wong, V.C.N.; Silveira, I.; Nicholson, G.A.; Brunt, E.R.; et al. "Asian origin for the worldwide-spread mutational event in Machado-Joseph disease". Archives of Neurology 64 10 (2007): 1502-1508. http://www.scopus.com/inward/record.url?eid=2-s2.0-35348877394&partnerID=MN8TOARS.
    10.1001/archneur.64.10.1502
  33. Martins, S.; Calafell, F.; Wong, V.C.N.; Sequeiros, J.; Amorim, A.. "A multistep mutation mechanism drives the evolution of the CAG repeat at MJD/SCA3 locus". European Journal of Human Genetics 14 8 (2006): 932-940. http://www.scopus.com/inward/record.url?eid=2-s2.0-33746366792&partnerID=MN8TOARS.
    10.1038/sj.ejhg.5201643
  34. Martins, S.; Seixas, A.I.; Magalhães, P.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "Haplotype diversity and somatic instability in normal and expanded SCA8 alleles". American Journal of Medical Genetics - Neuropsychiatric Genetics 139 B 1 (2005): 109-114. http://www.scopus.com/inward/record.url?eid=2-s2.0-27644506104&partnerID=MN8TOARS.
    10.1002/ajmg.b.30235
  35. Martins, S.; Matamá, T.; Guimarães, L.; Vale, J.; Guimarães, J.; Ramos, L.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "Portuguese families with dentatorubropallidoluysian atrophy (DRPLA) share a common haplotype of Asian origin". European Journal of Human Genetics 11 10 (2003): 808-811. http://www.scopus.com/inward/record.url?eid=2-s2.0-0242382682&partnerID=MN8TOARS.
    10.1038/sj.ejhg.5201054
  36. 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 7 (2002): 1353-1357. http://dx.doi.org/10.1038/sj.leu.2402525.
    10.1038/sj.leu.2402525
  37. Martins, Sandra; Magalhães, P.; Alonso, Isabel; Sequeiros, Jorge; Silveira, Isabel. "Regions of instability and mutability at the SCA8 locus". The American Journal of Human Genetics 71 4 (2002): 479-479. https://publons.com/publon/13300753/.
    Published
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2024/03/21 Evolutionary studies of ATXN3 paralogs in primates support the functional relevance of ATXN3L retrocopy Portugaliæ Genetica: DNA – Ancient and New
Instituto de Investigação e Inovação em Saúde (Porto, Portugal)
2023/11/16 Evolutionary history and gene expression of ataxin-3 paralogs i3S Annual Meeting
Instituto de Investigação e Inovação em Saúde (Póvoa de Varzim, Portugal)
2023/03/07 The importance of establishing genetic phases: haplotype studies in MJD From the Genotype to Phenotype, PhD program in Health Sciences
FMUC (Coimbra, Portugal)
2022/11/29 Mutational events responsible for the dispersal of Machado-Joseph disease Genetic Tests in Context: people, families, society - 25 years of genetic tests at IBMC
CGPP/IBMC (Porto, Portugal)
2022/03/08 Haplotype studies in MJD: data analyses and applications From the Genotype to Phenotype
Programa de Doutoramento em Ciências da Saúde, Fac Med Univ Coimbra (Coimbra, Portugal)
2020/03/03 Ancestral origins of the MJD mutational events: a worldwide haplotype study From the Genotype to Phenotype
Programa de Doutoramento em Ciências da Saúde, FacMed Univ Coimbra (Coimbra, Portugal)
2019/11/15 Genome-wide characterization of a cohort of Alzheimer's patients from Iberia: a focus on rare variants 23rd Annual Meeting, Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (SPGH) (Coimbra, Portugal)
2019/11/13 The Joseph and Machado lineages and their sublineages in families with Machado-Joseph disease spread worldwide International Machado-Joseph Research Disease Conference
MJD Foundation and The Israeli Machado Joseph Association (Washington DC, United States)
2019/06/11 Evolution and repair mechanisms of the human genome shaping disease-associated repeats Seminar 3Bs (Biodiversity, Biomedicine, Biotechnology)
PhD programme in Biology (Ponta Delgada, São Miguel, Açores, Portugal)
2018/03/07 Mutational origins of Machado-Joseph disease in patients from Portugal and Taiwan 10th Jornadas de Genética e Biotecnologia
Universidade de Trás-Os-Montes e Alto Douro (Vila Real, Portugal)
2017/11/09 ATXN3L: can an assumed pseudogene compensate partial loss-of-function of normal ATXN3 in Machado-Joseph disease? 6th i3S Annual Meeting
Instituto de Investigação e Inovação em Saúde (Póvoa de Varzim, Portugal)
2016/03/17 Ancestral origin of Machado-Joseph disease 10th World Congress on Controversies in Neurology (CONy)
ComtecMED (Lisboa, Portugal)
2015/11/16 Origin of the mutational events in Machado-Joseph disease From the Genotype to Phenotype
Programa de Doutoramento em Ciências da Saúde, Fac MedUniv Coimbra (Coimbra, Portugal)
2015/09/24 Origin of normal-size FMR1 alleles without [AGG] interspersions Unit for Multidisciplinary Research in Biomedicine SUMMIT
ICBAS - Instituto de Ciências Biomédicas Abel Salazar (Porto, Portugal)
2009/04/01 Evolutionary process of the CAG repeats intergenerational instability at the ATXN3 locus V International Workshop on MJD
MJD Foundation (Ponta Delgada, São Miguel, Açores, Portugal)
2006/08/06 The ancient mutational event for Machado-Joseph disease (MJD/SCA3) is older in Japan than in Europe: what more has Asia to tell us about MJD mutational origins? 11th International Congress of Human Genetics
International Federation of Human Genetics and Human Genetics Society of Australia (Brisbane, Australia)
2005/11/10 Machado-Joseph disease is present worldwide and may have an ancestral Japanese origin: haplotype backgrounds, age estimations and routes explaining current frequencies 9a Reunião Anual da Sociedade Portuguesa de Genética Humana
Sociedade Portuguesa de Genética Humana (Cascais, Portugal)
2005/03/17 Evolutionary dynamics of the (CAG)n alleles at MJD locus 8th Portugaliae Genetica
Ipatimup (Porto, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2023/01/01 - Current Hereditary cerebellar ataxias: gene evolution, causal variants and disease mechanisms
Supervisor of Daniela Felício
 Doctoral Programme in Molecular and Cellular Biology (PhD)
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2022/10/17 - 2022/12/17 Evolutionary and functional activity review of gene paralogs involved in polyglutamine spinocerebellar ataxias
Supervisor
 Master Biomedical Sciences (Master)
Universiteit van Amsterdam Faculteit der Natuurwetenschappen Wiskunde en Informatica, Netherlands
2019/09/01 - 2020/12/11 Genetic variation in the 3'UTR of ataxin-3 in Machado-Joseph disease patients
Supervisor
 Genética Forense (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2017/09/01 - 2018/12/01 Identification of ATXN3 polymorphisms with an influence on the age-at-onset of Machado-Joseph disease patients
Supervisor
 Genética Forense (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2016/09/01 - 2017/12/01 Portuguese and Taiwanese Machado-Joseph disease haplotype backgrounds
Supervisor
 Genética Forense (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2015/09/01 - 2016/12/01 Influence of variants in JOSD1, JOSD2 and ATXN3L on Machado-Joseph disease age-at-onset
Supervisor
 Bioengenharia (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2014/09/01 - 2015/02/28 Overviewing the functions of Machado-Joseph disease proteases and their potential relevance for MJD pathogenesis
Supervisor
 Biotecnologia Molecular (Degree)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012/09/01 - 2013/12/01 Selective constraints and expression pattern of the ataxin-3 like retrogene
Supervisor
 Genética Forense (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2011/09/01 - 2012/12/01 Evolution and functional relevance of ataxin-3 paralogues
Supervisor
 Molecular Biomedicine (Master)
Universidade de Aveiro Departamento de Ciências Médicas, Portugal
2010/09/01 - 2011/12/01 Mechanisms responsible for the evolutionary dynamics of the CAG repeat in the androgen receptor gene
Supervisor of João Pimenta
 Genética Forense (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2009/01/09 - 2010/12/01 Mutational mechanisms associated to normal (CAG)n alleles of the androgen receptor gene
Supervisor
 Genética Forense (Master)
Universidade do Porto Faculdade de Ciências, Portugal

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2023/03/23 - 2024/03/22 "DNA- Ancient and New" - Portugaliae Genetica, with topics on Genetics and Genomics; Mutations and Evolution; Ancestry Paradoxes; and Population Genetics - uses & abuses. All sections included lectures and/or discussions/round tables, and selected oral communications and poster session specially devoted to young researchers. (2024/03/21 - 2024/03/22)
Congress (Member of the Organising Committee)
 Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2018/03/22 - 2018/03/23 This event was devoted to the theme "Genetic diversity in structure and regulation" and a transversal programme covered exciting topics bridging population genetics, evolution and functional genomics, including the impact of genetic diversity on health and disease. (2018/03/22 - 2018/03/23)
Conference (Member of the Organising Committee)
 Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2011/03/17 - 2011/03/18 Portugaliae Genetica, 14th edition: "Model organisms: humans et al." (2011/03/17 - 2011/03/18)
Conference (Member of the Scientific Committee)
 Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Committee member

Activity description
Role 		Institution / Organization
2017 - Current Embaixadores de Ciência - Programa Educativo do i3S
Member
 Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Conference scientific committee

Conference name Conference host
2019/11/28 - 2019/11/29 i3S Annual Meeting Póvoa de Varzim
2019/06/11 - 2019/06/11 PhD programme in Biology Faculdade de Ciências e Tecnologia, Universidade dos Açores
2014/10/30 - 2014/10/31 i3S Annual Meeting Póvoa de Varzim
2011/03/17 - 2011/03/18 14th Portugaliae Genetica Porto

Course / Discipline taught

Academic session Degree Subject (Type) Institution / Organization
2011/09/01 - Current Diagnósticos Moleculares Mestrado de Biologia Molecular e Celular (Mestrado) Universidade do Porto Faculdade de Ciências, Portugal