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I obtained my BSc degree in Biotechnology in 2004. I got a research fellowship in 2007 to join the Biology Department at University of the Azores. Since 2009, I have been doing research in Machado-Joseph disease. I concluded my PhD in Biology on September of 2017; several papers resulted from my dissertation, which constituted novel contributions in the field of Machado-Joseph disease (MJD/SCA3), related with an underexplored topic: the search for molecular biomarkers. I got a 1 year post-doc fellowship, starting on October of 2017. This fellowship was included in the FCT-granted project "Whole-exome sequencing of discordant and concordant affected sib pairs in SCA3 (PTDC/DTP-PIC/2638/2014)". I was also a team member of the JPND-FCT project ESMI "The European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative". In 2018, having less than 1 year of post-doc experience, I got an international research grant as Principal Investigator for a one-year project founded by the Ataxia UK. In September of 2020, I started a Junior Researcher contract (CEECIND/03018/2018/CP1556/CT0009) at the Institute for Research and Innovation in Health - Porto through the 2018 CEEC call (FCT). At the beginning of 2025, I was awarded a 1-year Early Career Investigator grant from the National Ataxia Foundation, the world’s largest ataxia patient association. Over the past 16 years, I have published 38 peer-reviewed articles in impact-factor journals (including 9 as first author), coordinated 2 internationally funded projects (1 ongoing), contributed as a team member to 7 internationally/nationally funded projects, and supervised 8 master’s students (2 ongoing). Currently, I'm the study coordinator for the Azorean partner of the ESMI network, which includes the world’s largest and most well-characterized cohort of MJD subjects.
Read full resume ↓
Identification

Personal identification

Full name
Mafalda Sofia Bastos Raposo

Citation names

  • Raposo, Mafalda

Author identifiers

Ciência ID
AF12-989F-D6FB
ORCID iD
0000-0001-6899-0352

Knowledge fields

  • Medical and Health Sciences - Health Sciences

Languages

Language Speaking Reading Writing Listening Peer-review
Portuguese (Mother tongue)
Education
Degree Classification
2017/09/05
Concluded
 Biologia (Doutoramento)
Major in Sem especialidade
Universidade dos Açores, Portugal
"Predicting and tracking Machado-Joseph disease: biomarkers of diagnosis and prognosis" (THESIS/DISSERTATION)
 Aprovado
2004
Concluded
 Engenharia Biotecnológica (Licenciatura)
Instituto Politécnico de Bragança Escola Superior Agrária, Portugal
Affiliation

Science

Category
Host institution 		Employer
2018/10/20 - 2020/03/31 Researcher (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2017/10/20 - 2018/10/19 Postdoc (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2017/10/20 - 2018/10/19 Postdoc (Research) Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal
2012 - 2017 Researcher (Research) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2012 - 2017 Researcher (Research) Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal
2007 - 2012 Researcher (Research) Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal

Others

Category
Host institution 		Employer
2020/09/01 - Current Junior researcher (CEECIND/03018/2018/CP1556/CT0009) Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Projects

Grant

Designation Funders
2011/10 - 2015/10 Predicting and tracking Machado-Joseph disease: biomarkers of diagnosis and prognosis
M3.1.2/F/006/2011
M3.1.2/F/006/2011
PhD Student Fellow
Universidade dos Açores, Portugal
 Universidade de Coimbra

Fundo Regional para a Ciência e Tecnologia
Concluded

Contract

Designation Funders
2025/03/01 - Current Deciphering the role of long noncoding ATXN3 RNAs in Machado-Joseph disease/spinocerebellar ataxia type 3 (MJD/SCA3) pathogenesis
exploreATXN3
Principal investigator
National Ataxia Foundation
Ongoing
2020/04/01 - Current European Spinocerebellar Ataxia Type 3 / Machado-Joseph Disease Initiative (ESMI) Network
ESMI_NET
Researcher
Universidade dos Açores, Portugal
Ongoing
2022/01 - 2024/02 Metilação de DNA “genome-wide” na doença de Machado-Joseph: um estudo explotatório em tecidos cerebrais pós-mortem.
META_MJD
Researcher
Direção Regional da Ciência e Transição Digital
Concluded
2016/05/01 - 2020/03/31 Iniciativa Europeia para a ataxia espinocerebelosa do tipo 3/doença de Machado-Joseph
JPCOFUND/0002/2015
Fundação Gaspar Frutuoso, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2016/05 - 2020/03 JPND European Spinocerebellar Ataxia Type 3/Machado-Joseph Disease Initiative
n/a
Researcher
Fundação para a Ciência e a Tecnologia
Concluded
2018/04 - 2019/04 Discrimination of wild type and mutant ATXN3 mRNA levels by qPCR: protocol design and implementation
ZIBMC
Principal investigator
Ataxia UK
2018/01 - 2019/01 Apoptosis-related genes BCL2, BAX and TP53 as biomarkers of Machado-Joseph disease (MJD/SCA3)
N/A
Researcher
National Ataxia Foundation
2015/11 - 2018/04 Whole-exome sequencing of discordant and concordant affected sib pairs in spinocerebellar ataxia type 3 (SCA3): a tool to identify novel modifier genes and highlight disrupted molecular pathways.
grant.Provided by PTCRIS: 141264
Post-doc
Fundação para a Ciência e a Tecnologia
2013/05/01 - 2015/09/30 Identifying Molecular Endpoints for Machado-Joseph disease MJD/SCA3: evaluation of transcriptional candidate biomarkers in peripheral blood.
PTDC/DTP-PIC/0370/2012
Universidade dos Açores, Portugal

Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2013/05 - 2015/09 Identificando endpoints moleculares para a doença de Machado-Joseph (MJD/SCA3): avaliação de biomarcadores transcricionais em sangue periférico.
grant.Provided by PTCRIS: 124702
Researcher
Stichting Weten
Concluded
2009/01/01 - 2011/05/30 Variação na transcrição do gene da ATXN3 como factor modelador da variabilidade clínica na doença de Machado-Joseph DMJ.
PIC/IC/83074/2007
Hospital de Santo Espírito da Ilha Terceira EPER, Portugal

Universidade dos Açores, Portugal

Hospital do Divino Espírito Santo de Ponta Delgada EPE, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2009/01 - 2011/05 Transcriptional variation of the ATXN3 gene as modulator of the clinical heterogeneity in Machado-Joseph disease (MJD).
grant.Provided by PTCRIS: 83074
Researcher
Stichting Weten
Concluded

Other

Designation Funders
2020/09/01 - Current Home-, clinic- and lab-based quantitative measures to capture and track the preclinical stage of Machado-Joseph Disease/Spinocerebellar Ataxia type 3 (CEECIND/03018/2018/CP1556/CT0009)
CEECIND/03018/2018/CP1556/CT0009
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
 Fundação para a Ciência e a Tecnologia
Ongoing
Outputs

Publications

Book chapter
  1. Lima, Manuela; Raposo, Mafalda. "Towards the Identification of Molecular Biomarkers of Spinocerebellar Ataxia Type 3 (SCA3)/Machado-Joseph Disease (MJD)". In Advances in Experimental Medicine and Biology, 309-319. Springer International Publishing, 2018.
    10.1007/978-3-319-71779-1_16
  2. Raposo, Mafalda. "Human Genomic Projects: Setting the Stage for Genome-Scale Anthropological Studies". 2016.
    10.2174/9781681083858116020004
Conference abstract
  1. Raposo, Mafalda; Hübener-Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana Filipa Bartolomeu; Melo, Ana Rosa Vieira; Vasconcelos, João; Pires, Paula; et al. "ATXN3 ALTERNATIVE SPLICING IN SPINOCEREBELLAR ATAXIA TYPE 3/ MACHADO-JOSEPH DISEASE: DIVERSITY AND ABUNDANCE OF TRANSCRIPTS IN THE CEREBELLUM AND BLOOD". Paper presented in 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana, Coimbra, 2023.
    Published
  2. Faber J; Schaprian T; Wilke, Carlo; Hubener-Schmid, Jeannette; Riess, Olaf; Garcia-Moreno, Hector; Giunti, Paola; et al. "Data-driven model of dynamic biomarkers in SCA3-from early pre-ataxic to late ataxic disease stages". Paper presented in MDS Virtual Congress 2021, 2021.
    Published
  3. Silva, J. D.; Duarte-Silva, S.; Neves-Carvalho, A.; Soares-Cunha, C.; Correia, J.; Nogueira-Goncalves, G.; Oliveira, S.; et al. Corresponding author: Duarte-Silva, S. "A glucocorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease". Paper presented in Joint Meeting of the International-Society-for-Neurochemistry and American-Society-for-Neurochemistry (ISN-ASN)., Montreal, 2019.
    Published
Conference paper
  1. Ferin, Rita; Correia, Cristina; Raposo, Mafalda; Castro, Ana Rita; Reis, C.; Vieira, T.; Gonçalves, Bruno; Pavão, Maria Leonor. "Serum atherogenic lipid markers in subjects from three islands of The Azores Archipelago (Portugal): a comparison study". 2010.
    FERIN, R., CORREIA, C., RAPOSO, M., CASTRO, A. R., REIS, C., VIEIRA, T., GONÇALVES, B., e PAVÃO, M. L. (2010). "Serum atherogenic lipid markers in subjects from three islands of The Azores Archipelago (Portugal): a comparison study", Atherosclerosis Suppl
  2. Ferin, Rita; Correia, Cristina; Raposo, Mafalda; Gonçalves, Bruno; Gonçalves, C.; Baptista, José; Pavão, Maria Leonor. "Plasma aminothiol status in the population of the Island of São Jorge (The Azores Archipelago, Portugal)". 2010.
    FERIN, R., CORREIA, C., RAPOSO, M., GONÇALVES, B., GONÇALVES, C., BAPTISTA, J. E PAVÃO, M. L. (2010). "Plasma aminothiol status in the population of the Island of São Jorge (The Azores Archipelago, Portugal)", Atherosclerosis Supplements, 2010, 11(2): 163
  3. Raposo, Mafalda; Dahmani, Yahya; Silva, Francisca; Tavares, M.; Cymbron, Teresa; Santos, Cristina; Bettencourt, Conceição; et al. "Relationship of the APOE polymorphism and lipid profile: A population-based study in the Azores Islands (Portugal)". 2009.
Conference poster
  1. Raposo, Mafalda. "ATXN3 ALTERNATIVE SPLICING IN SPINOCEREBELLAR ATAXIA TYPE 3/ MACHADO-JOSEPH DISEASE: DIVERSITY AND ABUNDANCE OF TRANSCRIPTS IN THE CEREBELLUM AND BLOOD". Paper presented in 26th Annual Meeting of the Portuguese Society of Human Genetics (SPGH – Sociedade Portuguesa de Genética Humana), 2022.
  2. DA SILVA, JORGE D.; Duarte-Silva, S; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana; et al. "Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022.
  3. DA SILVA, JORGE D.; Duarte-Silva, Sara; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana; et al. "The Glucocorticoid Receptor as a Biomarker and Neuronal Therapeutic Target of a Disease-Improving Bile Acid in SCA3/MJD". Paper presented in International Congress for Ataxia Research (ICAR) 2022, 2022.
  4. Raposo, Mafalda; Melo, AR; Vilasboas-Campos, D; Ferreira, A; Vasconcelos, J; Alonso, Isabel; Silva, P; et al. "Identification of novel genetic modifiers of machado-joseph disease (MJD/SCA3) using whole-exome sequencing". Paper presented in International Machado-Joseph Research Disease Conference, 2019.
  5. Duarte-Silva, S; Da Silva, Jorge Diogo; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; Correia, Joana Sofia; Nogueira-Gonçalves, G; et al. "A Glucorticoid receptor-dependent mechanism of bile acid action with therapeutic impact in polyglutamine disease". Paper presented in European Behavioral Pharmacology Society, 2019.
Journal article
  1. Tim Lukas Elter; Daniel Sturm; Magda M. Santana; Tamara Schaprian; Mafalda Raposo; Ana Rosa Vieira Melo; Manuela Lima; et al. "Regional distribution of polymorphisms associated to the disease-causing gene of spinocerebellar ataxia type 3". Journal of Neurology (2025): https://doi.org/10.1007/s00415-024-12829-9.
    10.1007/s00415-024-12829-9
  2. Ahmed M. Sidky; Ana Rosa Vieira Melo; Teresa T. Kay; Mafalda Raposo; Manuela Lima; Darren G. Monckton. "Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease". Human Genetics (2024): https://doi.org/10.1007/s00439-024-02698-7.
    10.1007/s00439-024-02698-7
  3. Teves, Luís; Vieira Melo, Ana Rosa; Ferreira, Ana F.; Raposo, Mafalda; Lemos, Carolina; Bettencourt, Conceição; Lima, Manuela. "Global DNA methylation is not elevated in blood samples from Machado-Joseph disease mutation carriers". Epigenetics 19 1 (2024): https://doi.org/10.1080/15592294.2024.2368995.
    10.1080/15592294.2024.2368995
  4. Raposo, Mafalda; Hübener-Schmid, Jeannette; Tagett, Rebecca; Ferreira, Ana F.; Melo, Ana Rosa Vieira; Vasconcelos, João; Pires, Paula; et al. "Blood and cerebellar abundance of ATXN3 splice variants in spinocerebellar ataxia type 3/Machado-Joseph disease". Neurobiology of Disease (2024): 106456. http://dx.doi.org/10.1016/j.nbd.2024.106456.
    Accepted • 10.1016/j.nbd.2024.106456
  5. Weber, Niklas; Buchholz, Maresa; Rädke, Anika; Faber, Jennifer; Schmitz-Hübsch, Tanja; Jacobi, Heike; Klockgether, Thomas; et al. "Factors Influencing Health-Related Quality of Life of Patients with Spinocerebellar Ataxia". The Cerebellum 23 4 (2024): 1466-1477. https://doi.org/10.1007/s12311-024-01657-2.
    10.1007/s12311-024-01657-2
  6. Duarte-Silva, S; DA SILVA, JORGE D.; Monteiro-Fernandes, Daniela; Costa, Marta Daniela; Neves-Carvalho, Andreia; Raposo, Mafalda; Soares-Cunha, Carina; et al. "Glucocorticoid receptor-dependent therapeutic efficacy of tauroursodeoxycholic acid in preclinical models of Spinocerebellar ataxia type 3". The Journal of Clinical Investigation (2024):
    Published
  7. Mafalda Raposo; Jeannette Hübener-Schmid; Ana F Ferreira; Ana Rosa Vieira Melo; João Vasconcelos; Paula Pires; Teresa Kay; et al. "Blood transcriptome sequencing identifies biomarkers able to track disease stages in spinocerebellar ataxia type 3". Brain (2023): https://doi.org/10.1093/brain/awad128.
    10.1093/brain/awad128
  8. Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Ashraf, Naila S.; Medeiros, Filipa; Brilhante, Maria de Fátima; Perkins, Matthew; et al. "Tissue-Specific Vulnerability to Apoptosis in Machado-Joseph Disease". Cells 12 10 (2023): 1404. http://dx.doi.org/10.3390/cells12101404.
    Published • 10.3390/cells12101404
  9. Santana MM; Gaspar LS; Pinto MM; Silva P; Adão D; Pereira D; Ribeiro JA; et al. "A standardized protocol for blood and cerebrospinal fluid collection and processing for biomarker research in ataxia.". Neuropathology and applied neurobiology (2023): http://europepmc.org/abstract/med/36798010.
    10.1111/nan.12892
  10. Lima M; Raposo M; Ferreira A; Melo ARV; Pavão S; Medeiros F; Teves L; et al. "The Homogeneous Azorean Machado-Joseph Disease Cohort: Characterization and Contributions to Advances in Research.". Biomedicines (2023): http://europepmc.org/abstract/med/36830784.
    10.3390/biomedicines11020247
  11. Garcia-Moreno H; Prudencio M; Thomas-Black G; Solanky N; Jansen-West KR; Hanna Al-Shaikh R; Heslegrave A; et al. "Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.". European journal of neurology (2022): http://europepmc.org/abstract/med/35478426.
    10.1111/ene.15373
  12. 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 (2022): http://dx.doi.org/10.1007/s12311-021-01358-0.
    In press • 10.1007/s12311-021-01358-0
  13. Raposo, Mafalda; Bettencourt, Conceição; Melo, Ana Rosa Vieira; Ferreira, Ana F.; Alonso, Isabel; Silva, Paulo; Vasconcelos, João; et al. "Novel Machado-Joseph disease-modifying genes and pathways identified by whole-exome sequencing". Neurobiology of Disease 162 (2022): 105578. http://dx.doi.org/10.1016/j.nbd.2021.105578.
    10.1016/j.nbd.2021.105578
  14. Jeannette Hübener-Schmid; Kirsten Kuhlbrodt; Julien Peladan; Jennifer Faber; Magda M. Santana; Holger Hengel; Heike Jacobi; et al. "Polyglutamine-Expanded Ataxin-3: A Target Engagement Marker for Spinocerebellar Ataxia Type 3 in Peripheral Blood". Movement Disorders (2021): https://doi.org/10.1002/mds.28749.
    10.1002/mds.28749
  15. Wilke, Carlo; Haas, Eva; Reetz, Kathrin; Faber, Jennifer; Garcia-Moreno, Hector; Santana, Magda M; Warrenburg, Bart; et al. "Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice". EMBO Molecular Medicine 12 7 (2020): http://dx.doi.org/10.15252/emmm.201911803.
    Accepted • 10.15252/emmm.201911803
  16. 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 (2020): http://dx.doi.org/10.18632/aging.102825.
    10.18632/aging.102825
  17. Yau, Wai Yan; Raposo, Mafalda; Bettencourt, Conceição; Labrum, Robyn; Vasconcelos, João; Parkinson, Michael H; Giunti, Paola; et al. "The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich’s ataxia". Brain 143 4 (2020): e25-e25. http://dx.doi.org/10.1093/brain/awaa043.
    10.1093/brain/awaa043
  18. Ferreira, Ana F.; Raposo, Mafalda; Vasconcelos, João; Costa, Maria do Carmo; Lima, Manuela. "Selection of Reference Genes for Normalization of Gene Expression Data in Blood of Machado-Joseph Disease/Spinocerebellar Ataxia Type 3 (MJD/SCA3) Subjects". Journal of Molecular Neuroscience 69 3 (2019): 450-455. http://dx.doi.org/10.1007/s12031-019-01374-0.
    10.1007/s12031-019-01374-0
  19. Mafalda Raposo; Amanda Ramos; Cristina Santos; Nadiya Kazachkova; Balbina Teixeira; Conceição Bettencourt; Manuela Lima. "Accumulation of Mitochondrial DNA Common Deletion Since The Preataxic Stage of Machado-Joseph Disease". Molecular Neurobiology 56 1 (2019): 119-124. https://doi.org/10.1007/s12035-018-1069-x.
    10.1007/s12035-018-1069-x
  20. Ramos, A.; Planchat, M.; Vieira Melo, A. R.; Raposo, M.; Shamim, U.; Suroliya, V.; Srivastava, A. K.; et al. "Mitochondrial DNA haplogroups and age at onset of Machado–Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations". European Journal of Neurology 26 3 (2018): 506-512. http://dx.doi.org/10.1111/ene.13860.
    10.1111/ene.13860
  21. de Mattos, E. P.; Leotti, V. B.; Soong, B.-W.; Raposo, M.; Lima, M.; Vasconcelos, J.; Fussiger, H.; et al. "Age at onset prediction in spinocerebellar ataxia type 3 changes according to population of origin". European Journal of Neurology 26 1 (2018): 113-120. http://dx.doi.org/10.1111/ene.13779.
    10.1111/ene.13779
  22. Lima, Manuela; González, Carlos; Vieira, Sara; Araújo, Conceição; Kazachkova, Nadiya; Raposo, Mafalda; Vasconcelos, João; Kay, Teresa; Lima, Manuela. "A «aceitação» em portadores assintomáticos e sintomáticos da doença de Machado-Joseph". Mindfulness & Compassion 2 1 (2017): 26-33. http://dx.doi.org/10.1016/j.mincom.2016.11.002.
    10.1016/j.mincom.2016.11.002
  23. Kazachkova, N.; Raposo, M.; Ramos, A.; Montiel, R.; Lima, M.. "Promoter Variant Alters Expression of the Autophagic BECN1 Gene: Implications for Clinical Manifestations of Machado-Joseph Disease". Cerebellum 16 5-6 (2017): 957-963. http://www.scopus.com/inward/record.url?eid=2-s2.0-85023162613&partnerID=MN8TOARS.
    10.1007/s12311-017-0875-4
  24. Raposo, M.; Bettencourt, C.; Ramos, A.; Kazachkova, N.; Vasconcelos, J.; Kay, T.; Bruges-Armas, J.; Lima, M.. "Promoter Variation and Expression Levels of Inflammatory Genes IL1A, IL1B, IL6 and TNF in Blood of Spinocerebellar Ataxia Type 3 (SCA3) Patients". NeuroMolecular Medicine 19 1 (2017): 41-45. http://www.scopus.com/inward/record.url?eid=2-s2.0-84973165916&partnerID=MN8TOARS.
    10.1007/s12017-016-8416-8
  25. Melo, A.R.V.; Ramos, A.; Kazachkova, N.; Raposo, M.; Bettencourt, B.F.; Rendeiro, A.R.; Kay, T.; et al. "Triplet Repeat Primed PCR (TP-PCR) in Molecular Diagnostic Testing for Spinocerebellar Ataxia Type 3 (SCA3)". Molecular Diagnosis and Therapy 20 6 (2016): 617-622. http://www.scopus.com/inward/record.url?eid=2-s2.0-84988355035&partnerID=MN8TOARS.
    10.1007/s40291-016-0235-y
  26. Ramos, A.; Raposo, M.; Milà, M.; Bettencourt, C.; Houlden, H.; Cisneros, B.; Magaña, J.J.; et al. "Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias". Journal of Molecular Neuroscience 58 1 (2016): 83-87. http://www.scopus.com/inward/record.url?eid=2-s2.0-84957556509&partnerID=MN8TOARS.
    10.1007/s12031-015-0646-y
  27. Bettencourt, C.; Hensman-Moss, D.; Flower, M.; Wiethoff, S.; Brice, A.; Goizet, C.; Stevanin, G.; et al. "DNA repair pathways underlie a common genetic mechanism modulating onset in polyglutamine diseases". Annals of Neurology 79 6 (2016): 983-990. http://www.scopus.com/inward/record.url?eid=2-s2.0-84971318192&partnerID=MN8TOARS.
    10.1002/ana.24656
  28. Raposo, Mafalda. "Trends in the Epidemiology of Spinocerebellar Ataxia Type 3/Machado-Joseph Disease in the Azores Islands, Portugal.". JSM Brain Science 1 1 (2016): https://www.jscimedcentral.com/BrainScience/brainscience-1-1001.pdf.
    Open access • Published
  29. Raposo, M.; Ramos, A.; Bettencourt, C.; Lima, M.. "Replicating studies of genetic modifiers in spinocerebellar ataxia type 3: Can homogeneous cohorts aid?". Brain 138 12 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84951098086&partnerID=MN8TOARS.
    10.1093/brain/awv206
  30. Raposo, M.; Bettencourt, C.; Maciel, P.; Gao, F.; Ramos, A.; Kazachkova, N.; Vasconcelos, J.; et al. "Novel candidate blood-based transcriptional biomarkers of machado-joseph disease". Movement Disorders 30 7 (2015): 968-975. http://www.scopus.com/inward/record.url?eid=2-s2.0-84931957594&partnerID=MN8TOARS.
    10.1002/mds.26238
  31. Cymbron, T.; Mendes, P.; Ramos, A.; Raposo, M.; Kazachkova, N.; Medeiros, A.M.; Bruges-Armas, J.; Bourbon, M.; Lima, M.. "Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal)". Meta Gene 2 (2014): 638-645. http://www.scopus.com/inward/record.url?eid=2-s2.0-84916199209&partnerID=MN8TOARS.
    10.1016/j.mgene.2014.08.004
  32. Raposo, M.; Vasconcelos, J.; Bettencourt, C.; Kay, T.; Coutinho, P.; Lima, M.. "Nystagmus as an early ocular alteration in Machado-Joseph disease (MJD/SCA3)". BMC Neurology 14 1 (2014): http://www.scopus.com/inward/record.url?eid=2-s2.0-84892664065&partnerID=MN8TOARS.
    10.1186/1471-2377-14-17
  33. Kazachkova, N.; Raposo, M.; Montiel, R.; Cymbron, T.; Bettencourt, C.; Silva-Fernandes, A.; Silva, S.; MacIel, P.; Lima, M.. "Patterns of mitochondrial DNA damage in blood and brain tissues of a transgenic mouse model of machado-joseph disease". Neurodegenerative Diseases 11 4 (2013): 206-214. http://www.scopus.com/inward/record.url?eid=2-s2.0-84876420658&partnerID=MN8TOARS.
    10.1159/000339207
  34. Bettencourt, C.; Raposo, M.; Ros, R.; Montiel, R.; Bruges-Armas, J.; Lima, M.. "Transcript Diversity of Machado-Joseph Disease Gene (ATXN3) Is Not Directly Determined by SNPs in Exonic or Flanking Intronic Regions". Journal of Molecular Neuroscience 49 3 (2013): 539-543. http://www.scopus.com/inward/record.url?eid=2-s2.0-84880628160&partnerID=MN8TOARS.
    10.1007/s12031-012-9832-3
  35. Bettencourt, C.; Raposo, M.; Kazachkova, N.; Santos, C.; Kay, T.; Vasconcelos, J.; MacIel, P.; et al. "Sequence analysis of 5' regulatory regions of the Machado-Joseph disease gene (ATXN3)". Cerebellum 11 4 (2012): 1045-1050. http://www.scopus.com/inward/record.url?eid=2-s2.0-84870454416&partnerID=MN8TOARS.
    10.1007/s12311-012-0373-7
  36. Gonzalez, C.; Gomes, E.; Kazachkova, N.; Bettencourt, C.; Raposo, M.; Kay, T.T.; MacLeod, P.; Vasconcelos, J.; Lima, M.. "Psychological well-being and family satisfaction levels five years after being confirmed as a carrier of the machado-joseph disease mutation". Genetic Testing and Molecular Biomarkers 16 12 (2012): 1363-1368. http://www.scopus.com/inward/record.url?eid=2-s2.0-84869407490&partnerID=MN8TOARS.
    10.1089/gtmb.2011.0370
  37. Cymbron, T.; Raposo, M.; Kazachkova, N.; Bettencourt, C.; Silva, F.; Santos, C.; Dahmani, Y.; et al. "Cross-sectional study of risk factors for atherosclerosis in the Azorean population". Annals of Human Biology 38 3 (2011): 354-359. http://www.scopus.com/inward/record.url?eid=2-s2.0-79953085645&partnerID=MN8TOARS.
    10.3109/03014460.2011.553203
  38. Bettencourt, C.; Santos, C.; Coutinho, P.; Rizzu, P.; Vasconcelos, J.; Kay, T.; Cymbron, T.; et al. "Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): A two-case report". BMC Neurology 11 (2011): http://www.scopus.com/inward/record.url?eid=2-s2.0-80054808790&partnerID=MN8TOARS.
    10.1186/1471-2377-11-131
  39. Bettencourt, C.; Raposo, M.; Kazachkova, N.; Cymbron, T.; Santos, C.; Kay, T.; Vasconcelos, J.; et al. "The APOE e 2 allele increases the risk of earlier age at onset in Machado-Joseph disease". Archives of Neurology 68 12 (2011): 1580-1583. http://www.scopus.com/inward/record.url?eid=2-s2.0-83455217478&partnerID=MN8TOARS.
  40. Raposo, Mafalda; Sousa, Paul; Nemeth, Stefan; Couto, Ana Rita; Santos, Margarida Rodrigues; Pinheiro, João Paulo; Peixoto, Maria João; et al. "Polymorphism in cardiovascular diseases (CVD) susceptibility loci in the azores islands (Portugal)". Open Journal of Genetics 01 03 (2011): 48-53. http://dx.doi.org/10.4236/ojgen.2011.13009.
    10.4236/ojgen.2011.13009
Newspaper article
  1. Raposo, Mafalda; Lima, Manuela. "A importância das associações de doentes na investigação científica", Açores Magazine, 2022, https://noticias.uac.pt/wp-content/uploads/2022/01/Revista-09_01_2022-.pdf.
  2. Raposo, Mafalda; Vasconcelos, João; Lima, Manuela. "Da investigação aos ensaios clínicos : desafios e oportunidades para a doença de Machado-Joseph", 2014, http://hdl.handle.net/10400.3/5194.
  3. Lima, Manuela; Raposo, Mafalda; Armas, Jácome Bruges; Vasconcelos, João. "Doença de Machado-Joseph à procura de biomarcadores moleculares", 2013, http://hdl.handle.net/10400.3/5520.
Preprint
  1. Berger, Moritz; Garcia-Moreno, Hector; Ferreira, Monica; Hubener-Schmid, Jeannette; Schaprian, Tamara; Wegner, Philipp; Elter, Tim; et al. "Progression of biological markers in spinocerebellar ataxia type 3: analysis of longitudinal data from the ESMI cohort". 2025. https://doi.org/10.1101/2025.01.30.25321426.
    10.1101/2025.01.30.25321426
  2. Raposo, Mafalda; Sárkány, Zsuzsa; Damásio, Joana; Lima, Manuela; Macedo-Ribeiro, Sandra; Martins, Pedro M.. "Effect of levodopa/carbidopa on the progression of Machado-Joseph disease /spinocerebellar ataxia type 3 (MJD/SCA3)". 2024. https://doi.org/10.1101/2024.11.28.24318145.
    10.1101/2024.11.28.24318145
  3. Santana, Magda M; Silva, Patrick; Pinto, Maria M; Gaspar, Laetitia; Nobre, Rui; Duarte, Sónia; Marques, Tânia Monteiro; et al. "Small non-coding RNA content in plasma-derived extracellular vesicles distinguish ataxic SCA3 mutation carriers from pre-ataxic and control subjects". 2024. http://dx.doi.org/10.1101/2024.01.04.574044.
    10.1101/2024.01.04.574044
  4. Ferreira, Ana F.; Raposo, Mafalda; Shaw, Emily D.; Vasconcelos, João; Kay, Teresa; Bettencourt, Conceição; Saraiva-Pereira, Maria Luiza; et al. "Blood DDIT4 and TRIM13 transcript levels mark the early stages of Machado-Joseph disease". 2023. http://dx.doi.org/10.1101/2023.10.01.560372.
    10.1101/2023.10.01.560372
Thesis / Dissertation
  1. Raposo, Mafalda Sofia Bastos; Lima, Maria Manuela de Medeiros; Bettencourt, Maria da Conceição Félix. "Predicting and tracking Machado-Joseph disease : biomarkers of diagnosis and prognosis". PhD, 2017. http://hdl.handle.net/10400.3/4573.

Other

Other output
  1. Polyglutamine-expanded ataxin-3: a target engagement marker for Spinocerebellar ataxia type 3 in peripheral blood. 2021. Huebener-Schmid, J.; Kuhlbrodt, K.; Peladan, J.; Faber, J.; Santana, M.M.; Hengel, H.; Jacobi, H.; et al. http://www.scopus.com/inward/record.url?eid=2-s2.0-85133377001&partnerID=MN8TOARS.
    10.21203/rs.3.rs-384325
  2. Genome-wide association study identifies genetic factors that modify age at onset in Machado-Joseph disease. 2019. Fulya Akçimen; Sandra Martins; Calwing Liao; Cynthia V. Bourassa; Hélène Catoire; Garth A. Nicholson; Olaf Riess; et al. https://doi.org/10.1101/834754.
    10.1101/834754
  3. Neurofilaments as blood biomarkers at the preataxic and ataxic stage of spinocerebellar ataxia type 3: A cross-species analysis in humans and mice. 2019. Wilke, C.; Haas, E.; Reetz, K.; Faber, J.; Garcia-Moreno, H.; Santana, M.M.; van de Warrenburg, B.; et al. http://www.scopus.com/inward/record.url?eid=2-s2.0-85099105602&partnerID=MN8TOARS.
    10.1101/19011882
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2021/07/02 Levels of SIRT1 in blood and post-mortem brain samples of Machado Joseph disease (MJD) patients II International Meeting of the Portuguese Society of Genetics
Portuguese Society of Genetics (Portugal)
2020/10/20 Whole-exome sequencing identifies novel Machado-Joseph disease-modifying genes and pathways. SCA & ARCA Global online conference 2020
Ataxia Global Initiative
2019/11/15 NOVEL GENETIC MODIFIERS OF MACHADO-JOSEPH DISEASE (MJD/SCA3) IDENTIFIED BY WHOLE-EXOME SEQUENCING International Ataxia Research Conference 2019
(Washington, DC, United States)
2019/11/13 NOVEL GENETIC MODIFIERS OF MACHADO-JOSEPH DISEASE (MJD/SCA3) IDENTIFIED BY WHOLE-EXOME SEQUENCING Intl MJD Research Conference 2019
(Washington, DC, United States)
2015/03/08 Novel candidate blood-based transcriptional biomarkers of Machado-Joseph disease. International Ataxia Research Conference 2015
ATAXIA UK (Windsor, United Kingdom)
2014/04/05 Rumo à eficácia dos ensaios clínicos: Identificação de biomarcadores moleculares na doença de Machado-Joseph (DMJ/SCA3). 1ª Jornada de Investigação Clínica do HDES
Hospital do Divino Espírito Santo, EPE (Ponta Delgada, Portugal)

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2024/09 - Current Estudo genético de famílias com ataxias espinocerebelosas não-DMJ nos Açores
Co-supervisor
 Ciências Biomédicas
Universidade dos Açores, Portugal
2023/10/01 - Current Patient reported outcomes and disease biomarkers change over time and social economic impact in Machado-Joseph disease (MJD).
Co-supervisor
 Biologia (PhD)
Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal
2022/10/01 - Current Criação de um plano de intervenção fisioterapêutico na doença de Machado-Joseph.
Co-supervisor
 Ciências Biomédicas (Master)
Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal
2021/10/01 - 2024/12/11 Epidemiologia, Fatores de Risco e Agregação Familiar da Osteoartrose Avançada da Anca e Joelho: a Realidade da Ilha Terceira.
Co-supervisor
 Ciências Biomédicas (Master)
Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal
2021/10/01 - 2024/02/08 Doença de Machado-Joseph: impacto da disfagia na qualidade de vida.
Co-supervisor
 Terapia da Fala (Master)
Escola Superior de Saúde do Alcoitão, Portugal
2020/10/31 - 2023/01/10 A smartphone app to assess Composite Cerebellar Functional Severity Score for spinocerebellar ataxia.
Co-supervisor
 Ciências Biomédicas (Master)
Universidade dos Açores, Portugal
2020/10/30 - 2022/04/21 Perfil molecular dos genes ACE2 e TMPRSS2 na população açoriana: estudo da variabilidade genética nos principais genes associados à infeção por SARS-CoV-2
Co-supervisor
 Ciências Biomédicas (Master)
Universidade dos Açores, Portugal
2018/10 - 2020/03 Avaliação do comportamento transcricional do gene TP53 em diferentes tecidos e fases da doença de Machado-Joseph (DMJ)
Co-supervisor of Filipa Faria Medeiros
Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal
2016/10 - 2017 Modificadores genéticos da instabilidade da repetição (CAG)N na Doença Machado-Joseph/Ataxia espino-cerebelosa do tipo 3
Co-supervisor of Sara Raquel Rebelo Pavão
Universidade dos Açores Faculdade de Ciências e Tecnologia, Portugal
Distinctions

Award

2022 Honorable Mention in Basic Research – 26th Annual Meeting SPGH
Sociedade Portuguesa de Genética Humana, Portugal
2016 XVII Portugália Genética Best Poster Award
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2014 1ª Jornada de Investigação Clínica do HDES Best Poster Award
Hospital do Divino Espírito Santo de Ponta Delgada EPE, Portugal