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Carolina Lemos graduated in Biology in 2002 by the Faculty of Sciences of University of Porto. She finished her PhD in 2009, at UnIGENe, IBMC and Institute of Biomedical Sciences Abel Salazar (ICBAS). Her PhD project focused on the genetic and epidemiologic study of migraine, a complex disease. Her main research interest is in the genetic epidemiology of complex and mendelian genetic diseases, focusing nowadays in Primary Headaches and Familial Amyloidotic Polyneuropathy (FAP) research. Carolina Lemos published 60 articles in peer-reviewed journals. She is the author of 33 oral communications by invitation in national and international meetings, presenting the main results of her research group activities and author/co-author of 56 oral communications and 101 posters in national and international scientific meetings. During the last 5 years, she published 5 papers in peer-reviewed journals as last author, 20 papers as co-author. The publications reflect the commitment with her scientific lines of research, where she devoted to translational research, from bench to analysis of clinical data. She devoted herself to show the evidence of a genetic component of migraine in the Portuguese population and the importance of the anticipation of age-at-onset in Familial Amyloid Polyneuropathy. She and her team received 19 prize (s) and / or honors in national and international meetings, recognizing the value of the research that is made in this field. She had the opportunity to co-supervise/supervise during the last 15 years: 1 Post-Doc, 11 PhD students, 8 MSc students and 24 Medicine MSc Students. She is an Assistant Professor at ICBAS, teaching Genetics and Statistics to Medical; Aquatic sciences; Biochemistry and Public Health students. She is Treasurer of the Board of Headache Portuguese Society and ANDO-Associação Nacional de Displasias Ósseas. Participates actively in the dissemination of science in schools as Science Ambassador.
Identification

Personal identification

Full name
Carolina Lemos

Citation names

  • Lemos, Carolina

Author identifiers

Ciência ID
2010-F622-BB71
ORCID iD
0000-0001-9803-9584

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics

Languages

Language Speaking Reading Writing Listening Peer-review
English Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
French Intermediate (B1) Intermediate (B1) Elementary (A2) Intermediate (B1)
German Beginner (A1) Intermediate (B1) Elementary (A2) Elementary (A2)
Portuguese Proficiency (C2) Proficiency (C2) Proficiency (C2) Proficiency (C2)
Spanish; Castilian Beginner (A1) Intermediate (B1) Beginner (A1) Beginner (A1)
Education
Degree Classification
2009
Concluded
Ciências Biomédicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Genetic and Epidemiological Study of Migraine" (THESIS/DISSERTATION)
Approved by unanimity
2002
Concluded
Biologia (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
"-" (THESIS/DISSERTATION)
16 valores
Affiliation

Science

Category
Host institution
Employer
2024 - Current Principal Investigator (Research) Universidade do Porto, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2015 - 2023 Researcher (Research) Universidade do Porto, Portugal
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
2007 - 2015 Researcher (Research) Universidade do Porto, Portugal
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Teaching in Higher Education

Category
Host institution
Employer
2024/08/01 - Current Associate Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019/11/01 - 2024/07/31 Assistant Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Others

Category
Host institution
Employer
2012/11/01 - 2019/10/31 Invited Auxiliary Professor Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010/01/01 - 2012/10/31 Pos-doc with the project "Search for genetic modifiers in Familial Amyloid Polyneuropathy (FAP ATTRV30M): an epidemiological and molecular genetics approach", recipient of a fellowship from FCT Fundação para a Ciência e a Tecnologia, Portugal
2004/10/01 - 2009/10/31 PhD student, recipient of a fellowship from FCT Fundação para a Ciência e a Tecnologia, Portugal
2004/01/01 - 2004/09/30 Research Technician in the project "Genetic Study of migraine" Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2002/09/23 - 2003/12/31 Trainee student in the project "Genetic Study of Migraine" Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Projects

Contract

Designation Funders
2023/03/01 - 2026/02/28 O labirinto genético da Polineuropatia Amiloidótica Familiar ATTRV30M: uma abordagem genómica
2022.01656.PTDC
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2023/03/01 - 2024/08/31 Caracterização epigenética das células M-MG na Epilepsia Refractária
2022.10372.PTDC
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Centro Hospitalar Universitário de Santo António, Portugal

Instituto Nacional de Saúde Doutor Ricardo Jorge, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2019 - 2022/12/31 Analysis and correlation between epigenetics and brain activity to assess the risk of chronic and episodic migraine in women
MIGRAINEE
Researcher
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal

Universidade do Porto Instituto de Patologia e Imunologia Molecular, Portugal

Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
European Regional Development Fund
Ongoing
2017/01/01 - 2022/12/31 Deciphering how epigenomic changes correlates with age-at-onset variation in familial amyloid polyneuropathy (FAP ATTRV30M)
Amyloidosis Foundation Grant 2017
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Amyloidosis Foundation
Ongoing
2017 - 2022/12/31 Deciphering the genetic network associated with age-at-onset variability: increasing awareness of genetic carriers
WI216825_ IIR ASPIRE
Principal investigator
Universidade do Porto Instituto de Investigação e Inovação em Saúde, Portugal
Laboratórios Pfizer Ltda
Ongoing
2018/07/01 - 2022/06/30 Estudo Clínico e genético das cefaleias primárias e suas comorbilidades mais relevantes
PTDC/MEC-NEU/29486/2017
Principal investigator
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Ongoing
2016 - 2019 NORTE-01-0145-FEDER-000008 - Porto Neurosciences and Neurologic Disease Research Initiative at I3S
NORTE-01-0145-FEDER-000008 - Porto Neurosciences and Neurologic Disease Research Initiative at I3S
Researcher
Concluded
2013 - 2015 NORTE-07-0124-FEDER-000001 - Neurodegenerative Disorders
NORTE-07-0124-FEDER-000001 - Neurodegenerative Disorders
NORTE-07-0124-FEDER-000001 - Neurodegenerative Disorders
Researcher
N/A
Concluded
2010/05/01 - 2013/10/31 Variabilidade fenotípica e genes modificadores na Polineuropatia Amiloidótica Familiar (PAF ATTRV30M)
PTDC/SAU-GMG/100240/2008
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal

Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2010/06/01 - 2013/05/31 Pesquisa de modificadores nas ataxias espinocerebelosas: abordagens com base humana e animal
PTDC/SAU-GMG/100913/2008
Researcher
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Fundação para a Ciência e a Tecnologia
Concluded
2001/04/01 - 2004/12/31 Estudo Genético da Enxaqueca
POCTI/MGI/34390/2000
Other
Fundação para a Ciência e a Tecnologia
Concluded
Outputs

Publications

Conference abstract
  1. Carvalho, Estefânia; Dias, A; C71E-3343-F445; Felício, Daniela; 071C-4391-DD49; Alves-Ferreira, Miguel; 701A-EB83-4699; Lemos, Carolina. "Going deep into the identification of new genetic modifiers in ATTRV30M amyloidosis". Paper presented in European Conference on Human Genetics, Glasgow, 2024.
  2. Felício, Daniela; Osorio, Hugo; Pereira, Maria da Conceição; Sequeiros, Jorge; Lemos, Carolina; Santos, Mariana. "The potential impact of TTBK2 missense variants in SCA11: in silico analysis and a phosphoproteome study". Paper presented in 56th European Society of Human Genetics (ESHG) Conference, Glasgow, 2024.
    Accepted
  3. Carvalho, Estefânia; Dias, A; Coelho, Teresa; Felício, Daniela; Sousa, Alda; Alves-Ferreira, Miguel; Santos, Mariana; Lemos, Carolina. "Going deep in the identification of new genetic modifiers in ATTRV30M amyloidosis". Paper presented in 56th European Human Genetics (ESHG) Conference, Glasgow, 2024.
    Accepted
  4. Dias, A; Santos, Mariana; Carvalho, Estefânia; Felício, Daniela; Silva, Paulo; Alves, Ivânia; Pinho, Teresa; et al. "A novel PRRT2 variant confirmed in a patient with Hemiplegic migraine, with pathogenicity evidence through functional studies". Paper presented in 56th European Human Genetics (ESHG) Conference, Glasgow, 2024.
    Accepted
  5. 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
  6. 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
  7. Lemos, Carolina; Coelho, Teresa; Alves-Ferreira, Miguel; Santos, Diana; Sousa, Alda. "Unravelling the epidemiology of late-onset and asymptomatic carriers of FAP ATTR V30M in a portuguese population". Paper presented in 1st European Congress on Hereditary ATTR amyloidosis, Paris, 2015.
    Published
  8. Santos, Diana; Coelho, Teresa; Alves-Ferreira, Miguel; Sequeiros, Jorge; Alonso, Isabel; Grazina, Manuela; Sousa, Alda; Lemos, Carolina. "The hidden story behind gender differences in familial amyloidpolyneuropathy (FAP) ATTRV30M". Paper presented in 1st European Congress on Hereditary ATTR amyloidosis, Paris, 2015.
Conference poster
  1. Carvalho, Estefânia; Dias, Andreia; Liz, Márcia Almeida; Coelho, Teresa; Sousa, Alda; Alves-Ferreira, Miguel; Santos, Mariana; Lemos, Carolina. "New genetic modifiers of age-at-onset in ATTRV30M amyloidosis". Paper presented in 57th European Human Genetics Conference, 2024.
  2. 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.
  3. 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.
  4. 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.
  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. "Receptor activity modifying protein 1 (RAMP1) gene promoter methylation is associated with female migraine susceptibility". Paper presented in 19th Portugaliæ Genetica, 2022.
  7. 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.
  8. 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.
  9. Lemos, Carolina; Coelho, Teresa. "The role of genetic factors of Alzheimer and Parkinson Disease as modulators of age at onset on Familial Amyloid Polyneuropathy". Paper presented in XVIth International Symposium on Amyloidosis - Kumamoto, Japan, 2018.
  10. Neto, João Luís; Lemos, Carolina; Pereira-Monteiro, J.; Sequeiros, J.; Alonso, I.. "Assessment of the role of synaptic vesicles' molecular machinery encoding genes in migraine susceptibility". Paper presented in i3S Scientific Retreat, 2010.
  11. Ferro, Anabela; Castro, Maria-José; Sousa, Alda; Lemos, Carolina; Santos, M; Silveira, Isabel; Pereira-Monteiro, J.; Sequeiros, Jorge. "P16. The C677T MTHFR polymorphism is not a genetic risk factor for migraine in the portuguese population". Paper presented in Genetics of complex traits and isolated populations, 2003.
Journal article
  1. Estefânia Carvalho; Andreia Dias; Teresa Coelho; Alda Sousa; Miguel Alves-Ferreira; Mariana Santos; Carolina Lemos. "Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability". Journal of Neurology (2024): https://doi.org/10.1007/s00415-024-12509-8.
    10.1007/s00415-024-12509-8
  2. Martins, Telma S.; Correia, Miguel; Pinheiro, Denise; Lemos, Carolina; Mendes, Marta Vaz; Pereira, Clara; Costa, Vítor. "Sit4 Genetically Interacts with Vps27 to Regulate Mitochondrial Function and Lifespan in Saccharomyces cerevisiae". Cells 13 8 (2024): 655. http://dx.doi.org/10.3390/cells13080655.
    Published • 10.3390/cells13080655
  3. Pereira, D.; Machado, V.; Botelho, J.; Lemos, C.; Mendes, J.J.; Delgado, A.S.. "Vertical Dentofacial Skeletal Divergency Is Not Linked with Oral Health-Related Quality of Life". Journal of Clinical Medicine 13 3 (2024): http://www.scopus.com/inward/record.url?eid=2-s2.0-85184473893&partnerID=MN8TOARS.
    10.3390/jcm13030665
  4. Felício, Daniela; Dias, A; Martins, Sandra; Carvalho, Estefânia; Lopes, Alexandra; Pinto, Nadia; 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): http://dx.doi.org/10.1186/s10194-023-01615-z.
    Published • 10.1186/s10194-023-01615-z
  5. Felício, Daniela; Alves-Ferreira, Miguel; Santos, Mariana; Quintas, Marlene; Lopes, Alexandra; Lemos, Carolina; Pinto, Nadia; 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 (2023): http://dx.doi.org/10.1093/bfgp/elad020.
    Published • 10.1093/bfgp/elad020
  6. Dias, A; Santos, Mariana; Carvalho, Estefânia; Felício, Daniela; Silva, Paulo; Alves, Ivânia; Pinho, Teresa; et al. "Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine". Clinical Genetics 104 4 (2023): 479-485. http://dx.doi.org/10.1111/cge.14379.
    Published • 10.1111/cge.14379
  7. Chaves, João; Leal, Bárbara; Sardoeira, Ana; Carvalho, Vanessa; Samões, Raquel; Freitas, Joel; Chorão, Rui; et al. "Different relationships between epilepsy syndromes and autoimmune diseases". Epileptic Disorders 25 1 (2023): 33-44. http://dx.doi.org/10.1002/epd2.20048.
    10.1002/epd2.20048
  8. Garcia-Pelaez, José; Barbosa-Matos, Rita; Lobo, Silvana; Dias, Alexandre; Garrido, Luzia; Castedo, Sérgio; Sousa, Sónia; et al. "Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes". The Lancet Oncology 24 1 (2023): 91-106. http://dx.doi.org/10.1016/s1470-2045(22)00643-x.
    10.1016/s1470-2045(22)00643-x
  9. Vale, J.; Rocha, E.; Lemos, C.; Valente, C.; Andrade, R.; Espregueira-Mendes, J.; Rodrigues-Pinto, R.. "The Role of Systemic Steroids in Sciatica Due to Herniated Lumbar Disc: A Systematic Review and Meta-analysis". Spine 48 23 (2023): E391-E400. http://www.scopus.com/inward/record.url?eid=2-s2.0-85176495347&partnerID=MN8TOARS.
    10.1097/BRS.0000000000004801
  10. Santos, R.B.; Lemos, C.; Saraiva, M.. "Gender-affirming hormone therapy in Portugal: knowledge, safety and adherence". International Journal of Transgender Health (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85180880273&partnerID=MN8TOARS.
    10.1080/26895269.2023.2296542
  11. Martins, T.S.; Costa, R.S.; Vilaça, R.; Lemos, C.; Teixeira, V.; Pereira, C.; Costa, V.. "Iron Limitation Restores Autophagy and Increases Lifespan in the Yeast Model of Niemann–Pick Type C1". International Journal of Molecular Sciences 24 7 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85152334210&partnerID=MN8TOARS.
    10.3390/ijms24076221
  12. Paneque, M.; Guimarães, L.; Bengoa, J.; Pasalodos, S.; Cordier, C.; Esteban, I.; Lemos, C.; Moldovan, R.; Serra-Juhé, C.. "An European overview of genetic counselling supervision provision". European Journal of Medical Genetics 66 4 (2023): http://www.scopus.com/inward/record.url?eid=2-s2.0-85147251799&partnerID=MN8TOARS.
    10.1016/j.ejmg.2023.104710
  13. Cruz, Diogo; Monteiro, Francisca; Paço, Maria; Vaz-Silva, Manuel; Lemos, Carolina; Alves-Ferreira, Miguel; Pinho, Teresa. "Genetic overlap between temporomandibular disorders and primary headaches: A systematic review". Japanese Dental Science Review 58 (2022): 69-88. http://dx.doi.org/10.1016/j.jdsr.2022.02.002.
    10.1016/j.jdsr.2022.02.002
  14. Gomes, Ana Margarida; Orr, Bernardo; Novais-Cruz, Marco; De Sousa, Filipe; Macário-Monteiro, Joana; Lemos, Carolina; Ferrás, Cristina; Maiato, Helder. "Micronuclei from misaligned chromosomes that satisfy the spindle assembly checkpoint in cancer cells". Current Biology 32 19 (2022): 4240-4254.e5. http://dx.doi.org/10.1016/j.cub.2022.08.026.
    10.1016/j.cub.2022.08.026
  15. Rita Santos Martins; Catarina Silva Pereira; Carolina Lemos; Ricardo Rodrigues-Pinto. "Colocação de parafusos atlantoaxiais posteriores em uma população portuguesa: Uma análise morfométrica baseada em medidas de tomografia computadorizada". Revista Brasileira de Ortopedia (2022): https://doi.org/10.1055/s-0042-1744502.
    10.1055/s-0042-1744502
  16. Marcelino, Vanessa; Paço, Maria; Dias, Andreia; Almeida, Vera; Rocha, José Carlos; Azevedo, Rui; Alves-Ferreira, Miguel; Lemos, Carolina; Pinho, Teresa. Corresponding author: Pinho, Teresa. "The Role of Pain Inflexibility and Acceptance among Headache and Temporomandibular Disorders Patients". International Journal of Environmental Research and Public Health 19 13 (2022): 7974. http://dx.doi.org/10.3390/ijerph19137974.
    10.3390/ijerph19137974
  17. Carvalho, Estefânia; Dias, Andreia; Sousa, Alda; Lopes, Alexandra M.; Martins, Sandra; Pinto, Nádia; Lemos, Carolina; Alves-Ferreira, Miguel. Corresponding author: 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
  18. Pereira, C.; Park, J.-H.; Campelos, S.; Gullo, I.; Lemos, C.; Solorzano, L.; Martins, D.; et al. "Comparison of East-Asia and West-Europe cohorts explains disparities in survival outcomes and highlights predictive biomarkers of early gastric cancer aggressiveness". International Journal of Cancer 150 5 (2022): 868-880. http://www.scopus.com/inward/record.url?eid=2-s2.0-85121371701&partnerID=MN8TOARS.
    10.1002/ijc.33872
  19. Jacinto, Miguel; Matos, Rui; Alves, Inês; Lemos, Carolina; Monteiro, Diogo; Morouço, Pedro; Antunes, Raul. "Physical Activity, Exercise, and Sports in Individuals with Skeletal Dysplasia: What Is Known about Their Benefits?". (2022): http://hdl.handle.net/10316/100131.
    https://doi.org/10.3390/su14084487
  20. Vinha, A.; Bártolo, J.; Lemos, C.; Cordeiro, F.; Rodrigues-Pinto, R.. "Lumbosacral transitional vertebrae: prevalence in a southern European population and its association with low back pain". European Spine Journal 31 12 (2022): 3647-3653. http://www.scopus.com/inward/record.url?eid=2-s2.0-85139639105&partnerID=MN8TOARS.
    10.1007/s00586-022-07415-4
  21. Miguel Alves-Ferreira; Marlene Quintas; Jorge Sequeiros; Alda Sousa; José Pereira-Monteiro; Isabel Alonso; João Luís Neto; Carolina Lemos. "A genetic interaction of NRXN2 with GABRE, SYT1 and CASK in migraine patients: a case-control study". The Journal of Headache and Pain (2021): https://doi.org/10.1186/s10194-021-01266-y.
    10.1186/s10194-021-01266-y
  22. Gabriela M Almeida; Carla Pereira; Ji-Hyeon Park; Carolina Lemos; Sofia Campelos; Irene Gullo; Diana Martins; et al. "CD44v6 High Membranous Expression Is a Predictive Marker of Therapy Response in Gastric Cancer Patients". Biomedicines (2021): https://doi.org/10.3390/biomedicines9091249.
    10.3390/biomedicines9091249
  23. Miguel Alves-Ferreira; Ana Azevedo; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Carolina Lemos. "Beyond Val30Met transthyretin (TTR): variants associated with age-at-onset in hereditary ATTRv amyloidosis". Amyloid (2021): https://doi.org/10.1080/13506129.2020.1857236.
    10.1080/13506129.2020.1857236
  24. Videira, G.; Gabriel, D.; Freitas, J.; Samões, R.; Chorão, R.; Lopes, J.; Ramalheira, J.; et al. "Female preponderance in genetic generalized epilepsies". Seizure 91 (2021): 167-171. http://www.scopus.com/inward/record.url?eid=2-s2.0-85108337551&partnerID=MN8TOARS.
    10.1016/j.seizure.2021.06.014
  25. Pereira, D.; Machado, V.; Botelho, J.; Proença, L.; Rua, J.; Lemos, C.; Mendes, J.J.; Delgado, A.S.. "Impact of malocclusion, tooth loss and oral hygiene habits on quality of life in orthodontic patients: A cross-sectional study". International Journal of Environmental Research and Public Health 18 13 (2021): http://www.scopus.com/inward/record.url?eid=2-s2.0-85108956271&partnerID=MN8TOARS.
    10.3390/ijerph18137145
  26. Dias, A.; Mariz, T.; Sousa, A.; Lemos, C.; Alves-Ferreira, M.. "A review of migraine genetics: gathering genomic and transcriptomic factors". Human Genetics (2021): http://www.scopus.com/inward/record.url?eid=2-s2.0-85117615689&partnerID=MN8TOARS.
    10.1007/s00439-021-02389-7
  27. Pereira, C.D.S.; Maçães, A.O.; Lemos, C.L.; Rodrigues-Pinto, R.. "Sacro-pelvic Anthropometry in the Portuguese Population and Its Implication for Screw Placement in Spinal Surgery: A Single Centre Retrospective Analysis,Antropometria sacropélvica na população portuguesa e sua importância na colocação de parafusos em cirurgias da coluna vertebral: Análise retrospectiva de um único centro". Revista Brasileira de Ortopedia 57 6 (2021): 930-940. http://www.scopus.com/inward/record.url?eid=2-s2.0-85130047796&partnerID=MN8TOARS.
    10.1055/s-0042-1744293
  28. Quintas M; Neto JL; Sequeiros J; Sousa A; Pereira-Monteiro J; Lemos C; Alonso I. "Going Deep into Synaptic Vesicle Machinery Genes and Migraine Susceptibility - A Case-Control Association Study.". Headache (2020): http://europepmc.org/abstract/med/32979221.
    10.1111/head.13957
  29. Ferreira LT; Orr B; Rajendraprasad G; Pereira AJ; Lemos C; Lima JT; Guasch Boldú C; et al. "a-Tubulin detyrosination impairs mitotic error correction by suppressing MCAK centromeric activity.". The Journal of cell biology (2020): http://europepmc.org/abstract/med/32328631.
    10.1083/jcb.201910064
  30. Ferreira, L.T.; Orr, B.; Rajendraprasad, G.; Pereira, A.J.; Lemos, C.; Lima, J.T.; Boldú, C.G.; et al. "ARTICLE a-Tubulin detyrosination impairs mitotic error correction by suppressing MCAK centromeric activity". Journal of Cell Biology 219 4 (2020): http://www.scopus.com/inward/record.url?eid=2-s2.0-85084031422&partnerID=MN8TOARS.
    10.1083/JCB.201910064
  31. Cardoso, R.; Lemos, C.; Oliveiros, B.; Almeida, M.R.; Baldeiras, I.; Pereira, C.F.; Santos, A.; et al. "APOE ¿4-TOMM40L Haplotype Increases the Risk of Mild Cognitive Impairment Conversion to Alzheimer's Disease". Journal of Alzheimer's Disease 78 2 (2020): 587-601. http://www.scopus.com/inward/record.url?eid=2-s2.0-85096134035&partnerID=MN8TOARS.
    10.3233/JAD-200556
  32. Andreia Dias; Diana Santos; Teresa Coelho; Miguel Alves-Ferreira; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Carolina Lemos. "C1 QA and C1 QC modify age-at-onset in familial amyloid polyneuropathy patients". Annals of Clinical and Translational Neurology (2019): https://doi.org/10.1002/acn3.748.
    10.1002/acn3.748
  33. Pereira Guedes, T.; Fragoso, P.; Lemos, C.; Garrido, M.; Silva, J.; Falcão, D.; Maia, L.; et al. "Long-Term Follow-Up of Advanced Liver Disease after Sustained Virological Response to Treatment of Hepatitis C with Direct-Acting Antivirals: Outcomes from a Real-World Portuguese Cohort". GE Portuguese Journal of Gastroenterology (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85073622695&partnerID=MN8TOARS.
    10.1159/000503074
  34. Paneque, M.; Félix, J.; Mendes, Á.; Lemos, C.; Ledo, S.; Silva, J.; Sequeiros, J.. "Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal,Vinte anos de um protocolo de teste pré-sintomático para doenças neurológicas de início tardio em Portugal". Acta Medica Portuguesa 32 4 (2019): 295-304. http://www.scopus.com/inward/record.url?eid=2-s2.0-85065766376&partnerID=MN8TOARS.
    10.20344/amp.10526
  35. Madhivanan, K.; Greiner, E.R.; Alves-Ferreira, M.; Soriano-Castell, D.; Rouzbeh, N.; Aguirre, C.A.; Paulsson, J.F.; et al. "Erratum: Cellular clearance of circulating transthyretin decreases cell-nonautonomous proteotoxicity in Caenorhabditis elegans (Proceedings of the National Academy of Sciences of the United States of America (2019) 115 (E7710–E7719) DOI: 10.1073/pnas.1801117115)". Proceedings of the National Academy of Sciences of the United States of America 116 8 (2019): 3338-3338. http://www.scopus.com/inward/record.url?eid=2-s2.0-85061850968&partnerID=MN8TOARS.
    10.1073/pnas.1901373116
  36. Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Sousa, A.; Lemos, C.. "Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients". Annals of Neurology 85 2 (2019): 251-258. http://www.scopus.com/inward/record.url?eid=2-s2.0-85060767805&partnerID=MN8TOARS.
    10.1002/ana.25409
  37. Madhivanan, K.; Greiner, E.R.; Alves-Ferreira, M.; Soriano-Castell, D.; Rouzbeh, N.; Aguirre, C.A.; Paulsson, J.F.; et al. "Cellular clearance of circulating transthyretin decreases cell-nonautonomous proteotoxicity in Caenorhabditis elegans". Proceedings of the National Academy of Sciences of the United States of America 115 33 (2018): E7710-E7719. http://www.scopus.com/inward/record.url?eid=2-s2.0-85052735254&partnerID=MN8TOARS.
    10.1073/pnas.1801117115
  38. Paço, M.; Chaves, P.; Pinho, F.; Lemos, C.; Costa, R.; Duarte, J.A.; Pinho, T.. "Common symptoms of temporomandibular disorders do not mean same treatment plans: A case series". International Orthodontics 16 1 (2018): 174-214. http://www.scopus.com/inward/record.url?eid=2-s2.0-85043317654&partnerID=MN8TOARS.
    10.1016/j.ortho.2018.01.029
  39. Canadas, A.; Santos, M.; Nogueira, A.; Assis, J.; Gomes, M.; Lemos, C.; Medeiros, R.; Dias-Pereira, P.. "Canine mammary tumor risk is associated with polymorphisms in RAD51 and STK11 genes". Journal of Veterinary Diagnostic Investigation 30 5 (2018): 733-738. http://www.scopus.com/inward/record.url?eid=2-s2.0-85050290032&partnerID=MN8TOARS.
    10.1177/1040638718789231
  40. Paneque, M.; Costa, C.; Lemos, C.; Alves-Ferreira, M.; Sequeiros, J.; Lemos, M.S.. "Proposal of a portuguese tool for quality assessment of genetic counselling: A new tool for healthcare professionals,Proposta de uma escala portuguesa para a avaliação da qualidade do aconselhamento genético: Uma nova ferramenta para os profissionais da saúde". Acta Medica Portuguesa 31 6 (2018): 321-328. http://www.scopus.com/inward/record.url?eid=2-s2.0-85049525440&partnerID=MN8TOARS.
    10.20344/amp.9997
  41. Paço, M.; Chaves, P.; Pinho, F.; Lemos, C.; Costa, R.; Duarte, J.A.; Pinho, T.. "Une même symptomatologie articulaire temporomandibulaire n'implique pas nécessairement la même thérapeutique: une série de cas cliniques". International Orthodontics 16 1 (2018): 174-214. http://www.scopus.com/inward/record.url?eid=2-s2.0-85043328870&partnerID=MN8TOARS.
    10.1016/j.ortho.2018.01.030
  42. Paneque, Milena; Costa, Catarina; Lemos, Carolina; Alves-Ferreira, Miguel; Sequeiros, Jorge; Lemos, Marina Serra. "Proposal of a Portuguese Tool for Quality Assessment of Genetic Counselling: a New Tool for Healthcare Professionals". (2018): https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/9997.
  43. Diana Santos; Maria João Santos; Miguel Alves-Ferreira; Teresa Coelho; Jorge Sequeiros; Isabel Alonso; Pedro Oliveira; et al. "mtDNA copy number associated with age of onset in familial amyloid polyneuropathy". Journal of Neurology, Neurosurgery & Psychiatry (2017): jnnp--2017--316657-jnnp--2017--316657. https://doi.org/10.1136%2Fjnnp-2017-316657.
    10.1136/jnnp-2017-316657
  44. Miguel Alves-Ferreira; Teresa Coelho; Diana Santos; Jorge Sequeiros; Isabel Alonso; Alda Sousa; Carolina Lemos. "A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal". Molecular Neurobiology (2017):
    10.1007/s12035-017-0593-4
  45. Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A.. "Familial amyloid polyneuropathy in Portugal: New genes modulating age-at-onset". Annals of Clinical and Translational Neurology 4 2 (2017): 98-105. http://www.scopus.com/inward/record.url?eid=2-s2.0-85026195015&partnerID=MN8TOARS.
    10.1002/acn3.380
  46. Sofia Rosas; Maria Paço; Carolina Lemos; Teresa Pinho. "Comparison between the Visual Analog Scale and the Numerical Rating Scale in the perception of esthetics and pain". International Orthodontics 15 4 (2017): 543-560. https://doi.org/10.1016%2Fj.ortho.2017.09.027.
    10.1016/j.ortho.2017.09.027
  47. Rosas, S.; Paço, M.; Lemos, C.; Pinho, T.. "Comparison between the Visual Analog Scale and the Numerical Rating Scale in the perception of esthetics and pain,Comparaison entre l’Échelle Visuelle Analogue et l’Échelle d’Évaluation Numérique dans la perception de l'esthétique et de la douleur". International Orthodontics 15 4 (2017): 543-560. http://www.scopus.com/inward/record.url?eid=2-s2.0-85034421754&partnerID=MN8TOARS.
    10.1016/j.ortho.2017.09.028
  48. Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Mendonça, D.; Alonso, I.; Lemos, C.; Sousa, A.. "Variants in RBP4 and AR genes modulate age at onset in familial amyloid polyneuropathy (FAP ATTRV30M)". European Journal of Human Genetics 24 5 (2016): 756-760. http://www.scopus.com/inward/record.url?eid=2-s2.0-84939553337&partnerID=MN8TOARS.
    10.1038/ejhg.2015.180
  49. Beiraõ, J.M.; Malheiro, J.; Lemos, C.; Beiraõ, I.; Costa, P.; Torres, P.. "Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: A review of 513 cases". Amyloid 22 2 (2015): 117-122. http://www.scopus.com/inward/record.url?eid=2-s2.0-84934282438&partnerID=MN8TOARS.
    10.3109/13506129.2015.1015678
  50. Beirão, J.M.; Malheiro, J.; Lemos, C.; Matos, E.; Beirão, I.; Pinho-Costa, P.; Torres, P.. "Impact of liver transplantation on the natural history of oculopathy in Portuguese patients with transthyretin (V30M) amyloidosis". Amyloid 22 1 (2015): 31-35. http://www.scopus.com/inward/record.url?eid=2-s2.0-84927139450&partnerID=MN8TOARS.
    10.3109/13506129.2014.989318
  51. Alves-Ferreira, M.; Pinho, T.; Sousa, A.; Sequeiros, J.; Lemos, C.; Alonso, I.. "Identification of genetic risk factors for maxillary lateral incisor agenesis". Journal of Dental Research 93 5 (2014): 452-458. http://www.scopus.com/inward/record.url?eid=2-s2.0-84898950873&partnerID=MN8TOARS.
    10.1177/0022034514523986
  52. Barros, J.; Ferreira, A.; Brandão, A.F.; Lemos, C.; Correia, F.; Damásio, J.; Tuna, A.; et al. "Familial hemiplegic migraine due to L263V SCN1A mutation: Discordance for epilepsy between two kindreds from Douro Valley". Cephalalgia 34 12 (2014): 1015-1020. http://www.scopus.com/inward/record.url?eid=2-s2.0-84908158692&partnerID=MN8TOARS.
    10.1177/0333102414527015
  53. Lemos, C.; Coelho, T.; Alves-Ferreira, M.; Martins-Da-Silva, A.; Sequeiros, J.; Mendonça, D.; Sousa, A.. "Overcoming artefact: Anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M". Journal of Neurology, Neurosurgery and Psychiatry 85 3 (2014): 326-330. http://www.scopus.com/inward/record.url?eid=2-s2.0-84896709791&partnerID=MN8TOARS.
    10.1136/jnnp-2013-305383
  54. Quintas, M.; Neto, J.L.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Sousa, A.; Alonso, I.; Lemos, C.. "Interaction between ¿-Aminobutyric Acid A Receptor Genes: New Evidence in Migraine Susceptibility". PLoS ONE 8 9 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84883511876&partnerID=MN8TOARS.
    10.1371/journal.pone.0074087
  55. Cruz, S.; Lemos, C.; Monteiro, J.M.P.. "Familial aggregation of cluster headache | Agregação familiar da cefaleia em salvas". Arquivos de Neuro-Psiquiatria 71 11 (2013): 866-870. http://www.scopus.com/inward/record.url?eid=2-s2.0-84888415221&partnerID=MN8TOARS.
    10.1590/0004-282X20130170
  56. Barros, J.; Barreto, R.; Brandão, A.F.; Domingos, J.; Damásio, J.; Ramos, C.; Lemos, C.; et al. "Monozygotic twin sisters discordant for familial hemiplegic migraine.". The journal of headache and pain 14 (2013): http://www.scopus.com/inward/record.url?eid=2-s2.0-84900055241&partnerID=MN8TOARS.
  57. Ramos, E.M.; Cerqueira, J.; Lemos, C.; Pinto-Basto, J.; Alonso, I.; Sequeiros, J.. "Intergenerational instability in Huntington disease: Extreme repeat changes among 134 transmissions". Movement Disorders 27 4 (2012): 583-585. http://www.scopus.com/inward/record.url?eid=2-s2.0-84859436267&partnerID=MN8TOARS.
    10.1002/mds.24065
  58. Lemos, C.; Alonso, I.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A.. "Assessing Risk Factors for Migraine: Differences in Gender Transmission". PLoS ONE 7 11 (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84869801948&partnerID=MN8TOARS.
    10.1371/journal.pone.0050626
  59. Pinho, T.; Lemos, C.. "Dental repercussions of maxillary lateral incisor agenesis". European Journal of Orthodontics 34 6 (2012): 698-703. http://www.scopus.com/inward/record.url?eid=2-s2.0-84870484518&partnerID=MN8TOARS.
    10.1093/ejo/cjr084
  60. Lemos, C.; Neto, J.L.; Pereira-Monteiro, J.; Mendonça, D.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A.. "A role for endothelin receptor type A in migraine without aura susceptibility? A study in Portuguese patients". European Journal of Neurology 18 4 (2011): 649-655. http://www.scopus.com/inward/record.url?eid=2-s2.0-79952721018&partnerID=MN8TOARS.
    10.1111/j.1468-1331.2010.03239.x
  61. Pinho, T.; Pollmann, C.; Calheiros-Lobo, M.J.; Sousa, A.; Lemos, C.. "Craniofacial repercussions in maxillary lateral incisors agenesis | Les répercussions craniofaciales dans l'agénésie des incisives latérales maxillaires". International Orthodontics 9 3 (2011): 274-285. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856600353&partnerID=MN8TOARS.
    10.1016/j.ortho.2011.07.005
  62. Lemos, C.; Mendonça, D.; Pereira-Monteiro, J.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A.. "BDNF and CGRP interaction: Implications in migraine susceptibility". Cephalalgia 30 11 (2010): 1375-1382. http://www.scopus.com/inward/record.url?eid=2-s2.0-79751474283&partnerID=MN8TOARS.
    10.1177/0333102410368443
  63. Pinho, T.; MacIel, P.; Lemos, C.; Sousa, A.. "Familial aggregation of maxillary lateral incisor agenesis". Journal of Dental Research 89 6 (2010): 621-625. http://www.scopus.com/inward/record.url?eid=2-s2.0-77953261129&partnerID=MN8TOARS.
    10.1177/0022034510364486
  64. Lemos, C.; Pereira-Monteiro, J.; Mendonça, D.; Ramos, E.M.; Barros, J.; Sequeiros, J.; Alonso, I.; Sousa, A.. "Evidence of syntaxin 1A involvement in migraine susceptibility: A Portuguese study". Archives of Neurology 67 4 (2010): 422-427. http://www.scopus.com/inward/record.url?eid=2-s2.0-77950873164&partnerID=MN8TOARS.
    10.1001/archneurol.2010.37
  65. Castro, M.-J.; Stam, A.H.; Lemos, C.; De Vries, B.; Vanmolkot, K.R.J.; Barros, J.; Terwindt, G.M.; et al. "First mutation in the voltage-gated NaV1.1 subunit gene SCN1A with co-occurring familial hemiplegic migraine and epilepsy". Cephalalgia 29 3 (2009): 308-313. http://www.scopus.com/inward/record.url?eid=2-s2.0-59149098688&partnerID=MN8TOARS.
    10.1111/j.1468-2982.2008.01721.x
  66. Lemos, C.; Castro, M.-J.; Barros, J.; Sequeiros, J.; Pereira-Monteiro, J.; Mendonça, D.; Sousa, A.. "Familial clustering of migraine: Further evidence from a portuguese study". Headache 49 3 (2009): 404-411. http://www.scopus.com/inward/record.url?eid=2-s2.0-61349169629&partnerID=MN8TOARS.
    10.1111/j.1526-4610.2008.01177.x
  67. Paneque, M.; Lemos, C.; Sousa, A.; Velázquez, L.; Fleming, M.; Sequeiros, J.. "Role of the disease in the psychological impact of pre-symptomatic testing for SCA2 and FAP ATTRV30M: Experience with the disease, kinship and gender of the transmitting parent". Journal of Genetic Counseling 18 5 (2009): 483-493. http://www.scopus.com/inward/record.url?eid=2-s2.0-70349664486&partnerID=MN8TOARS.
    10.1007/s10897-009-9240-1
  68. Castro, M.-J.; Nunes, B.; de Vries, B.; Lemos, C.; Vanmolkot, K.R.J.; van den Heuvel, J.J.M.W.; Temudo, T.; et al. "Two novel functional mutations in the Na+, K+ -ATPase a2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes". Clinical Genetics 73 1 (2008): 37-43. http://www.scopus.com/inward/record.url?eid=2-s2.0-37249054940&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2007.00918.x
  69. Ferro, A.; Castro, M.-J.; Lemos, C.; Santos, M.; Sousa, A.; Pereira-Monteiro, J.; Sequeiros, J.; Maciel, P.. "The C677T polymorphism in MTHFR is not associated with migraine in Portugal". Disease Markers 25 2 (2008): 107-113. http://www.scopus.com/inward/record.url?eid=2-s2.0-55449110399&partnerID=MN8TOARS.
    10.1155/2008/178679
  70. Paneque, M.; Lemos, C.; Escalona, K.; Prieto, L.; Reynaldo, R.; Velázquez, M.; Quevedo, J.; et al. "Psychological follow-up of presymptomatic genetic testing for spinocerebellar ataxia type 2 (SCA2) in Cuba". Journal of Genetic Counseling 16 4 (2007): 469-479. http://www.scopus.com/inward/record.url?eid=2-s2.0-34548163596&partnerID=MN8TOARS.
    10.1007/s10897-006-9083-y
  71. Castro, M.-J.; Stam, A.H.; Lemos, C.; Barros, J.; Gouveia, R.G.; Martins, I.P.; Koenderink, J.B.; et al. "Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine". Journal of Human Genetics 52 12 (2007): 990-998. http://www.scopus.com/inward/record.url?eid=2-s2.0-36448998130&partnerID=MN8TOARS.
    10.1007/s10038-007-0205-7
  72. Castro, M.-J.; Barros, J.; Lemos, C.; Mendes, A.; Vanmolkot, K.; Frants, R.; Sequeiros, J.; Monteiro, J.P.; van den Maagdenberg, A.. "Novel recurrent mutation in ATP1A2 gene in a Portuguese family with familiar hemiplegic migraine type 2 | Nova mutação recorrente no gene ATP1A2 numa familia portuguesa com enxaqueca hemiplégica familiar tipo 2". Sinapse 6 2 (2006): 4-10. http://www.scopus.com/inward/record.url?eid=2-s2.0-33845305796&partnerID=MN8TOARS.
  73. Lemos, C.; Castro, M.-J.; Mendonça, T.; Barros, J.; Pereira Monteiro, J.M.. "Migraine: Familial distribution in a Portuguese population | Enxaqueca: Distribuição familiar numa população portuguesa". Sinapse 6 1 (2006): 48-53. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745320973&partnerID=MN8TOARS.
Preprint
  1. Moura, João; Oliveira, Jorge; Santos, Mariana; Costa, Sara; Silva, Lénia; Lemos, Carolina; Barros, José; Sequeiros, Jorge; Damásio, Joana. "Spinocerebellar ataxias: phenotypic spectrum of polyQ versus non-repeat expansion forms". 2024. http://dx.doi.org/10.21203/rs.3.rs-4200296/v1.
    10.21203/rs.3.rs-4200296/v1
Working paper
  1. Felício, Daniela; Osorio, Hugo; Pereira, Maria da Conceição; Sequeiros, Jorge; Lemos, Carolina; Santos, Mariana. 2023. "Novel missense variant in TTBK2 linked to loss of function and abnormal protein phosphorylation".

Other

Other output
  1. Microtubule tyrosination/detyrosination specifies a mitotic error code. 2019. Ferreira LT; Orr B; Rajendraprasad G; Pereira AJ; Lemos C; Lima JT; Boldú CG; et al. http://europepmc.org/abstract/PPR/PPR95725.
    10.1101/801977
  2. CD44v6 expression is a novel predictive marker of therapy response and poor prognosis in gastric cancer patients. 2018. Carla Pereira; Daniel Ferreira; Carolina Lemos; Diana Martins; Nuno Mendes; Daniela Almeida; Pedro Granja; et al. https://doi.org/10.1101/468934.
    10.1101/468934
Activities

Supervision

Thesis Title
Role
Degree Subject (Type)
Institution / Organization
2022/01/22 - 2025/12 Functional interactions of TTR partners as modulators of age-at-onset in Familial Amyloid Polyneuropathy
Supervisor
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021/10/01 - 2025/09/30 The role of the DNA methylome in Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3): identification of epigenetic modifiers of transcriptional dysregulation and variable expressivity
Co-supervisor
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023 - 2023 CRISPR-Cas9 in Alzheimer´s Disease and Huntington´s Disease Therapeutics
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023 - 2023 Risco Cardiovascular em Pessoas Transgénero
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023 - 2023 Traços da personalidade nos estudantes de medicina e sua evolução ao longo do percurso académico
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023 - 2023 CACNA1A Related Disorders
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023 - 2023 Raiva humana na era da globalização
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2023 - 2023 Tinnitus Impact on Quality of Life: Can Cochlear Implantation Decrease Tinnitus Perception?
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2022 - 2022 Saúde Sexual e Reprodutiva em Pessoas Trans
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2022 - 2022 Supressão Pubertária em Crianças e Adolescentes Trans
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2022 - 2022 Avaliação do Impacto das Diferentes Fases de Transição no Bem-estar da Pessoa Transgénero
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2022 - 2022 Bipolar Disorder: A Candidate Gene Study Centered in Portuguese Families
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 - 2022 AVALIAÇÃO DAS ALTERAÇÕES DA QUALIDADE DE VIDA RELACIONADAS COM A SAÚDE ORAL ANTES DO TRATAMENTO ORTODÔNTICO
Co-supervisor
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 - 2021 Trissomia 21: estudo epidemiológico hospitalar
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 - 2021 Terapêutica Hormonal em Pessoas Trans: Conhecimento, Adequação, Adesão, Cumprimento de Metas e Efeitos Adversos
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 - 2021 CRISPR-Cas9 against HIV infection
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 - 2021 Lumbosacral Transitional Vertebrae: Prevalence in a Mediterranean population and its association with low back pain
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 - 2021 Outcomes of lumbar surgery in Parkinson’s disease
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 - 2021 Posterior atlantoaxial screw placement in a Portuguese population: a morphometric analysis based on CT scan measurements
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 - 2021 Cochlear implantation: hearing improvement and impact on quality of life
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 - 2020 The role of systemic steroids in the symptomatic treatment of herniated lumbar disks: A Systematic Review and Meta- analysis.
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 - 2020 Sacro-pelvic anthropometry in the Portuguese population and its implications for screw placement in spinal surgery: a CT-based study.
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 - 2020 The role of the DNA methylome in Machado-Joseph disease (MJD)/spinocerebellar ataxia type 3 (SCA3): identification of epigenetic modifiers of transcriptional dysregulation and variable expressivity
Co-supervisor
Biologia Molecular e Celular (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 - 2020 Descriminação de pessoas trans no Serviço Nacional de Saúde (e barreiras ao seu acesso)
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 - 2020 Association between primary Raynaud´s phenomenon and migraine: prevalence and clinical predictors
Supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 - 2019 Introperative fluroscopic radiation in orthopaedic trauma: correlation with surgery type and surgeon experience
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 - 2019 Primary headaches: a whole genome and epigenome study
Supervisor
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 - 2018 Tracking the origin of Val30Met mutation in Familial Amyloid Polyneuropathy (TTR-FAP) within different Portuguese regions
Supervisor
Saúde Pública (Master)
Universidade do Porto Faculdade de Medicina, Portugal
2018 - 2018 Associação entre dermatite atópica infantil e perturbação de hiperatividade/défice de atenção: estudo corte retrospetivo em crianças portuguesas.
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 - 2017 Clinical variability in late - AO cases of transthyretin related Familiar Amyloid Polyneuropathy diagnosed from 2007 to 2016.
Co-supervisor
Medicina (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2016 - 2017 Modulators of phenotypic variability in Familial Amyloid Polyneuropathy (FAP)
Supervisor
Mestrado em Saúde Pública (Master)
Universidade do Porto, Portugal
2016 - 2016 Unravelling modulators of age-at-onset variability in FAP ATTRV30M
Supervisor
Bioquímica (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2015 - 2015 Phenotypic variability in familial amyloid polyneuropathy: TTR modifiers in Caenorhabditis elegans and human models
Supervisor
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2014 - 2014 The role of genetic and epigenetic mechanisms as modifiers of age-at-onset (AO) in familial amyloid polyneuropathy (FAP ATTRV30M)
Co-supervisor
Ciências Biomédicas (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2014 - 2014 Familial amyloid polyneuropathy:TTR sequencing and in silico analysis
Supervisor
Biomedicina Molecular (Master)
Universidade de Aveiro, Portugal
2012 - 2012 Caracterização do polimorfismo no gene de susceptibilidade para a enxaqueca STX1A: Estudo numa população controlo da Ilha de de São Miguel (Açores)
Co-supervisor
Mestrado em Ciências Biomédicas (Master)
Universidade dos Açores, Portugal
2011 - 2012 Migraine epidemiological study: neurogenic inflammation mechanisms
Supervisor
Mestrado em Saúde Pública (Master)
Universidade do Porto, Portugal
2011 - 2012 “Role of X-linked genes in migraine susceptibility”
Supervisor
Mestrado em Epidemiologia (Master)
Universidade do Porto, Portugal
2009 - 2010 Role of synaptic vesicles in migraine susceptibility
Co-supervisor
Mestrado em Bioquímica (Master)
Universidade do Porto, Portugal

Jury of academic degree

Topic
Role
Candidate name (Type of degree)
Institution / Organization
2021 Hospital Emergency Admissions for Acute Cerebrovascular Disease During COVID-19 Pandemic: the impact on a central hospital
(Thesis) Main arguer
Marta Joana Achada Lima (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 The Cross Tolk Between Stroke and Cancer : a Population - Based Study
President of the jury
Catarina Maria Cheu Guedes Vaz Lopes (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 Nível de lactato como indicador prognóstico de mortalidade e morbilidade hospitalar
(Thesis) Main arguer
Sara Isabel Neves de Sousa Matos (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 COVID-19 e gravidez
President of the jury
Sara Daniela Faria da Silva (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 Does the hospital length of stay until admission to Intensive Care impact mortality? A  observational study
(Thesis) Main arguer
Margarida de Castro Gothen (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 The Nrf2/Hamp1-/- mouse as a model of Myelodysplasia
President of the jury
Ana Rita Martins Antunes (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2021 A Relação entre Psoríase e Tabaco
President of the jury
Cátia Sofia Cunha da Silva (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2020 O papel da disbiose intestinal na esclerose múltipla
(Thesis) Arguer
Ana Rita Moreira de Castro (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 Pathogenic variants in movement disorders: modifiers, interactors and disease models
Thesis Member
Maria da Conceição Moutinho Pedroso Pereira (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 Alterações eletrocardiográficas no atleta e preditores da morte súbita cardíaca
President of the jury
Marta Catarina Ribeiro Bernardo (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 Avaliação dos indicadores de qualidade EUSOMA na abordagem ao cancro da mama na unidade da mama do Centro Hospitalar Universitário do Porto
President of the jury
Tiago Miguel Vilar Aguiar Soares (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 Demographic characterization of a dementia outpatient clinic in a tertiary referral hospital and study of prognostic factors for the progression of mild cognitive impairment to dementia
President of the jury
João Paulo Araújo de Moura (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 The impact of anatomy computer-assisted learning training and computer literacy on medical students performance
President of the jury
Ana Cristina Pedrosa Beleza Carvalho (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2019 Confiabilidade intra e inter - individual na avaliação da espessura muscular em doentes críticos por ecografia.
President of the jury
Rita Maria Morgado Nogueira Cabral (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 Unravelling new spastic paraplegia genes and their functions through next generation sequencing
Thesis Member
Sara Peres de Morais (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 Establishing the pathogenicity of novel mitochondrial DNA sequence variations: a cell and molecular biology approach
(Thesis) Arguer
Mafalda Rita Avó Bacalhau (PhD)
Universidade de Coimbra Faculdade de Medicina, Portugal
2018 Atopic dermatisis: a systemic disease
President of the jury
Ana Clara Marques Oliveira (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018 Psoriasis and chronic obstructive pulmonary disease
President of the jury
Catarina Gil Azevedo Ribeiro (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 Genetic susceptibility and immune dysfunction in multiple sclerosis
(Thesis) Main arguer
Andreia Manuela Teixeira Bettencourt Moreira (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 CAG repeat instability in Huntington´s disease: insights from HD patients and mouse models
Thesis Member
João Luís Aguiar Martins Neto (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 Discovering pathways underlying autism spectrum disorder upon loss-of-function of chromatin-related genes
Thesis Member
Catarina Morais Seabra (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 Importância da caracterização genético-clínica na ajuda à classificação das doenças do sono que cursam com hipersonolência diurna
(Thesis) Arguer
António Moreira e Costa (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 Estigma e Saúde Mental
President of the jury
Madalena Cabral Ferreira (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017 Hand Grip strength and cardiovascular risk factors in older Adult across Europe
(Thesis) Arguer
Diana Leite Portela da Silva (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2015 Parto prematuro, estudo epidemiológico e genético. O envolvimento do Gene HBDI.
(Thesis) Arguer
Ana Patrícia Rodrigues Domingues (PhD)
Universidade de Coimbra Faculdade de Medicina, Portugal
2015 Análise do Gene 5-HT2A na Demência Frontotemporal
(Thesis) Arguer
Daniela Filipa Ribeiro Luís (PhD)
Universidade de Coimbra Faculdade de Medicina, Portugal
2013 Demência Frontotemporal:diagnóstico molecular em doentes portugueses
(Thesis) Main arguer
SANDRA CRISTINA FERRAZ PEIXOTO (Master)
Universidade de Aveiro, Portugal

Association member

Society Organization name Role
2017 - Current ANDO - Associação Nacional de Displasias Ósseas Sócia

Committee member

Activity description
Role
Institution / Organization
2019 - Current Membro do Conselho Científico da ANDO - Associação Nacional de Displasias Ósseas
Member
2015 - Current Membro da Comissão Científica da Sociedade Portuguesa de Cefaleias
Other
Sociedade Portuguesa de Cefaleias , Portugal
2021 - 2024 Tesoureira da Direcção da Sociedade Portuguesa de Cefaleias
Other
2018 - 2021 Vogal da Mesa da Assembleia Geral da Sociedade Portuguesa de Cefaleias
Member
Sociedade Portuguesa de Cefaleias , Portugal

Journal scientific committee

Journal title (ISSN) Publisher
2018 - Current Genetics and Molecular Biology (1678-4685) SciELO
2016 - Current Biochemical Genetics (1573-4927) Springer-Verlag
2015 - Current Acta Neurologica Scandinavica (1600-0404) Wiley (Blackwell Publishing)
2015 - Current European Journal Of Oral Sciences (1600-0722) Wiley (Blackwell Publishing)
2014 - Current European Journal of Neurology (1468-1331) Wiley (Blackwell Publishing)
2014 - Current Human Genetics (1432-1203) Springer-Verlag
2014 - Current Neurogenetics (1364-6753) Springer-Verlag
2013 - Current Molecular Genetics & Genomic Medicine (2324-9269) Wiley (John Wiley & Sons)
2012 - Current Clinical Genetics (1399-0004) Wiley (Blackwell Publishing)
2011 - Current American Journal of Medical Genetics Part B Neuropsychiatric Genetics (1552-485X) Wiley (John Wiley & Sons)
Distinctions

Award

2018 Best poster selected as the delegates’s choice - ARiA VII Symposium
2017 Best original paper published in 2016 in the human genetics field -Sociedade Portuguesa de Genética Humana
2017 Best poster selected as the delegates’s choice - ARiA VI Symposium
2015 Best Poster ARiA IV Award - ARIA IV Symposium
2015 3rd place of the Tecnifar Headache Award - Sociedade Portuguesa de Cefaleias
2014 1st place of the Tecnifar Headache Award - Sociedade Portuguesa de Cefaleias
2013 3rd place of the Tecnifar Headache Award - Sociedade Portuguesa de Cefaleias
2012 1st place of the Tecnifar Headache Award -Sociedade Portuguesa de Cefaleias
2012 Best Poster Presentation - “XIII International Symposium on Amyloidosis”
International Society of Amyloidosis, United States
2011 2nd place of the Tecnifar Headache Award -Sociedade Portuguesa de Cefaleias
2010 1st place of the Tecnifar Headache Award - Sociedade Portuguesa de Cefaleias
2009 2nd place of the Tecnifar Headache Award - Sociedade Portuguesa de Cefaleias
2008 2nd place of the Tecnifar Headache Award - Sociedade Portuguesa de Cefaleias
2007 Corino de Andrade/Novartis Award - Sociedade Portuguesa de Neurologia
2006 Tecnifar Fellowship - Sociedade Portuguesa de Cefaleias