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Isabel Alonso graduated in Biology (1998) at FCUP, Porto. After 2-years’ experience as research fellow initiated a PhD in Biomedical Sciences at ICBAS, successfully concluded in 2006. In 2007, initiated a post-doc and gained a 5-years research position, at IBMC (2009-2014). As research fellow, worked on the genetic characterization of spinocerebellar ataxias (SCAs), identifying expanded repeats as the causal mutation in several families. During the PhD, focused on identifying mutations in families with rare SCAs, as well as the molecular and behavioural study of mouse models for SCAs with a great impact on the knowledge about SCAs and, in particular, on the role of calcium deregulation on cognitive function. After the PhD, initiated a post-doc (2007-09) at CNC, Coimbra. Was granted a Ciência 2008 position (2009-2014), which allowed to establish independent research lines at UnIGENe and tackle scientific topics not being addressed, as the search for genetic modifiers (using cellular and C. elegans and models). Was PI of 5 projects including an FCT-ANR funded project. Supervised 2 post-doc, 6 PhD (one from Brazil) and 7 MSc students, all successfully concluded. Currently, supervises 1 post-doc and 1 PhD student. Published 76 papers in international peer-reviewed high impact journals and a book. Has been involved in post-graduate education, lecturing to PhD and MSc programs and established several national and international collaborations. Received several awards, including the Calouste Gulbenkian Foundation (Research Stimulus Program), the Portuguese Headache Society/Tecnifar and the Center for Clinical Genetics (Professor Amândio Tavares award). Was deeply involved in the transfer of technology from research to diagnostic services as technical director and scientific supervisor for genetic testing performed at CGPP (Centro de Genetica Preditiva e Preventiva, IBMC. Involved in introducing new tests and new technologies, and in the adoption of a quality system at CGPP, accredited by IPAC (ISO15189). Participated in the elaboration of laboratory best practices for molecular genetic testing of the spinocerebellar ataxias (SCAs) and the yearly assessment of the reports from the SCAs EQA scheme for the European Molecular Genetics Network (EMQN). Evaluator for the EMQN since 2015.
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Identification

Personal identification

Full name
Isabel Alonso

Citation names

  • Alonso, Isabel

Author identifiers

Ciência ID
641B-34DE-1038
ORCID iD
0000-0001-8549-6903
Researcher Id
I-4307-2013
Scopus Author Id
14022380700

Knowledge fields

  • Medical and Health Sciences - Basic Medicine - Human Genetics
  • Medical and Health Sciences - Basic Medicine - Neurosciences
  • Natural sciences - Biological Sciences - Molecular Biology
Education
Degree Classification
2018
Concluded
 Clinical Laboratory Geneticist (Título de especialista)
European Board of Medical Genetics, Austria
2006
Concluded
 Ciências Biomédicas (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
"Molecular Characterization and Pathogenic Mechanism Involved in Dominant Ataxias" (THESIS/DISSERTATION)
2005
Concluded
 Course in Laboratory Animals - FELASA C Category (Outros)
Universidade do Minho Instituto de Investigação em Ciências da Vida e Saúde, Portugal
2000
Concluded
 Ciências Médico-Legais (Pós-Graduação)
Instituto Nacional de Medicina Legal e Ciências Forenses, Portugal
1998
Concluded
 Biologia (Licenciatura)
Universidade do Porto Faculdade de Ciências, Portugal
Affiliation

Teaching in Higher Education

Category
Host institution 		Employer
2014 - Current Visiting Professor (University Teacher) Universidade do Porto Faculdade de Medicina, Portugal
2010 - Current Visiting Professor (University Teacher) Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal

Others

Category
Host institution 		Employer
2020 - Current Laboratory Director (Clinical Molecular Genetics) Genetyca-ICM, Portugal
2015 - Current EQA assessor European Molecular Genetics Quality Network , United Kingdom
2014 - 2019 Laboratory Director (Clinical Molecular Genetics)/Scientific supervisor (CGPP-IBMC) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2007 - 2019 Clinical scientist (CGPP-IBMC) Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2009 - 2014 Ciência 2008 Position Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2007 - 2009 Postdoctoral fellow Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2000 - 2006 PhD Student Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
1999 - 2001 Research fellow Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
Projects

Grant

Designation Funders
2018 - 2021 Clinical and genetic study of primary headaches and the most relevant associated comorbidities
POCI-01-0145-FEDER-029486
Researcher
FCT - Fundação para a Ciência e a Tecnologia
Ongoing
2018 - 2021 Family reunification success after child institutionalization: Testing the effectiveness of a positive parenting intervention
NORTE-01-0145-FEDER-031727
Researcher
FCT - Fundação para a Ciência e a Tecnologia
2017 - 2019 GenomePT - IBMC node
POCI-01-0145-FEDER-022184
Principal investigator
FCT - Fundação para a Ciência e a Tecnologia
Ongoing
2015 - 2018 EXOS3 (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
PTDC/DTP-PIC/2638/2014
Researcher
FCT - Fundação para a Ciência e a Tecnologia
2014 - 2017 Identification of new causative genes in spinocerebellar degenerations by combination of whole genome scan, next-generation sequencing and biological validation in vitro and in vivo
FCT-ANR/BEX-GMG/0008/2013
Principal investigator
FCT - Fundação para a Ciência e a Tecnologia
2013 - 2015 Identifying Molecular Endpoints for Machado-Joseph disease (MJD/SCA3): evaluation of transcriptional candidate biomarkers in peripheral blood
PTDC/DTP-PIC/0370/2012
Researcher
FCT - Fundação para a Ciência e a Tecnologia
2010 - 2013 Search for disease modifiers in spinocerebellar ataxias: human and animal-based approaches
PTDC/SAU-GMG/100913/2008
Principal investigator
FCT - Fundação para a Ciência e a Tecnologia
2010 - 2013 Phenotypic variability and modifier genes in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
info:eu-repo/grantAgreement/FCT/5876-PPCDTI/100240/PT
Researcher
FCT - Fundação para a Ciência e a Tecnologia
2009 - 2012 Clinical Implications of genetic factors causing neurodegenerative diseases characterized by movement or cognitive dysfunction
PIC/IC/82897/2007
Researcher
FCT - Fundação para a Ciência e a Tecnologia
2009 - 2011 Mutational spectrum and improvement in laboratory techniques applied to molecular diagnosis of neurological disorders
PIC/IC/83232/2007
Principal investigator
FCT - Fundação para a Ciência e a Tecnologia
2005 - 2008 Molecular Genetics of Autosomal Dominant Neurodegenerative Diseases Characterized mainly by Ataxia
info:eu-repo/grantAgreement/FCT/POCI/56387/PT
Researcher
FCT - Fundação para a Ciência e a Tecnologia
2004 - 2005 Epigenomics and Phenotypic Variability: From Machado-Joseph Disease to other Hereditary Ataxias
FCG Gulbenkian Program for Research Stimulus
Principal investigator
Fundação Calouste Gulbenkian
2000 - 2003 Genetics and Pathogenic Mechanisms of Dominant Ataxias
info:eu-repo/grantAgreement/FCT/POCI/34517/PT
Researcher
FCT - Fundação para a Ciência e a Tecnologia
1999 - 2001 Molecular genetics of ataxias and hereditary spastic paraplegias
PRAXIS/P/SAU/13226/1998
Research Fellow
FCT - Fundação para a Ciência e a Tecnologia
Outputs

Publications

Book
  1. Matilla-Dueñas, A.; Corral-Juan, M.; Rodríguez-Palmero Seuma, A.; Vilas, D.; Ispierto, L.; Morais, S.; Sequeiros, J.; et al. Rare neurodegenerative diseases: Clinical and genetic update. 2017.
    10.1007/978-3-319-67144-4_25
Journal article
  1. Santos, Mariana; Damásio, Joana; Kun-Rodrigues, Célia; Barbot, Clara; Sequeiros, Jorge; Brás, José; Alonso, Isabel; Guerreiro, Rita. "Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype". Journal of Clinical Medicine 9 4 (2020): 1212. http://dx.doi.org/10.3390/jcm9041212.
    10.3390/jcm9041212
  2. Rita Rodrigues; Renata Silva; Mariana Branco; Eva Brandão; Isabel Alonso; Luís Ruano; José Leal Loureiro. "Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia". Journal of the Neurological Sciences 410 (2020): 116646-116646. https://doi.org/10.1016/j.jns.2019.116646.
    10.1016/j.jns.2019.116646
  3. Joana Teixeira; Sofia Dória; Mariana Santos; Alonso, Isabel; Miguel Leão. "Progressive Microcephaly, Spasticity And Development Delay: Novel SLC1A4 Variants In Two Portuguese Families And Literature Review". Journal of Genetics & Genomic Sciences (2020):
    Accepted
  4. Taipa, Ricardo; das Neves, Sofia P.; Sousa, Ana L.; Fernandes, Joana; Pinto, Claudia; Correia, Ana P.; Santos, Ernestina; et al. "Proinflammatory and anti-inflammatory cytokines in the CSF of patients with Alzheimer's disease and their correlation with cognitive decline". (2019): http://hdl.handle.net/1822/62386.
    10.1016/j.neurobiolaging.2018.12.019
  5. Dias, A.; Santos, D.; Coelho, T.; Alves-Ferreira, M.; Sequeiros, J.; Alonso, I.; Sousa, A.; Lemos, C.. "C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients". Annals of Clinical and Translational Neurology 6 4 (2019): 748-754. http://www.scopus.com/inward/record.url?eid=2-s2.0-85062767210&partnerID=MN8TOARS.
    10.1002/acn3.748
  6. Marques Matos, C.; Alonso, I.; Leão, M.. "Diagnostic yield of next-generation sequencing applied to neurological disorders". Journal of Clinical Neuroscience 67 (2019): 14-18. http://www.scopus.com/inward/record.url?eid=2-s2.0-85068056846&partnerID=MN8TOARS.
    10.1016/j.jocn.2019.06.041
  7. Salgado, P.; Carvalho, R.; Brandão, A.F.; Jorge, P.; Ramos, C.; Dias, D.; Alonso, I.; Magalhães, M.. "Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge". eNeurologicalSci 14 (2019): 9-12. http://www.scopus.com/inward/record.url?eid=2-s2.0-85057264031&partnerID=MN8TOARS.
    10.1016/j.ensci.2018.11.022
  8. 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
  9. Santos-Silva, R.; Rosário, M.; Grangeia, A.; Costa, C.; Castro-Correia, C.; Alonso, I.; Leão, M.; Fontoura, M.. "Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism". Journal of Pediatric Endocrinology and Metabolism (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85071663496&partnerID=MN8TOARS.
    10.1515/jpem-2019-0047
  10. Santos, M.; Morais, S.; Pereira, C.; Sequeiros, J.; Alonso, I.. "Parkin truncating variants result in a loss-of-function phenotype". Scientific Reports 9 1 (2019): http://www.scopus.com/inward/record.url?eid=2-s2.0-85074625360&partnerID=MN8TOARS.
    10.1038/s41598-019-52534-6
  11. Malaquias, M.J.; Fineza, I.; Loureiro, L.; Cardoso, L.; Alonso, I.; Magalhães, M.. "GNAO1 mutation presenting as dyskinetic cerebral palsy". Neurological Sciences 40 10 (2019): 2213-2216. http://www.scopus.com/inward/record.url?eid=2-s2.0-85067653729&partnerID=MN8TOARS.
    10.1007/s10072-019-03964-7
  12. Pereira, Sandra; Adrião, Mariana; Sampaio, Mafalda; Basto, Margarida Ayres; Rodrigues, Esmeralda; Vilarinho, Laura; Teles, Elisa Leão; Alonso, Isabel; Leão, Miguel. "Mitochondrial Encephalopathy: First Portuguese Report of a VARS2 Causative Variant". (2018): http://hdl.handle.net/10400.18/6265.
    10.1007/8904_2018_89
  13. Ladeira, F.; Cação, G.; Correia, A.P.; Pinto, P.S.; Cavaco, S.; Melo-Pires, M.; Alonso, I.; Taipa, R.. "When decrease Aß1-42 in CSF may not mean Alzheimer's disease". Alzheimer Disease and Associated Disorders 32 4 (2018): 359-363. http://www.scopus.com/inward/record.url?eid=2-s2.0-85056803514&partnerID=MN8TOARS.
    10.1097/WAD.0000000000000248
  14. Martins, J.; Damásio, J.; Mendes, A.; Vila-Chã, N.; Alves, J.E.; Ramos, C.; Cavaco, S.; et al. "Clinical spectrum of C9orf72 expansion in a cohort of Huntington’s disease phenocopies". Neurological Sciences 39 4 (2018): 741-744. http://www.scopus.com/inward/record.url?eid=2-s2.0-85041902547&partnerID=MN8TOARS.
    10.1007/s10072-018-3268-7
  15. Santos, D.; Santos, M.J.; Alves-Ferreira, M.; Coelho, T.; Sequeiros, J.; Alonso, I.; Oliveira, P.; et al. "MtDNA copy number associated with age of onset in familial amyloid polyneuropathy". Journal of Neurology, Neurosurgery and Psychiatry 89 3 (2018): 300-304. http://www.scopus.com/inward/record.url?eid=2-s2.0-85042883375&partnerID=MN8TOARS.
    10.1136/jnnp-2017-316657
  16. Jonsson, L.; Magnusson, T.E.; Thordarson, A.; Jonsson, T.; Geller, F.; Feenstra, B.; Melbye, M.; et al. "Rare and Common Variants Conferring Risk of Tooth Agenesis". Journal of Dental Research 97 5 (2018): 515-522. http://www.scopus.com/inward/record.url?eid=2-s2.0-85045041833&partnerID=MN8TOARS.
    10.1177/0022034517750109
  17. Coutelier, M.; Hammer, M.B.; Stevanin, G.; Monin, M.-L.; Davoine, C.-S.; Mochel, F.; Labauge, P.; et al. "Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes". JAMA Neurology 75 5 (2018): 591-599. http://www.scopus.com/inward/record.url?eid=2-s2.0-85047087037&partnerID=MN8TOARS.
    10.1001/jamaneurol.2017.5121
  18. Marecos, C.; Duarte, S.; Alonso, I.; Calado, E.; Moreira, A.. "GNAO1: A new gene to consider on early-onset childhood dystonia,GNAO1: Un nuevo gen a considerar en la distonía temprana de la infancia". Revista de Neurologia 66 9 (2018): 321-322. http://www.scopus.com/inward/record.url?eid=2-s2.0-85046761044&partnerID=MN8TOARS.
  19. Alves-Ferreira, M.; Coelho, T.; Santos, D.; Sequeiros, J.; Alonso, I.; Sousa, A.; Lemos, C.. "A Trans-acting Factor May Modify Age at Onset in Familial Amyloid Polyneuropathy ATTRV30M in Portugal". Molecular Neurobiology (2017): 1-8. http://www.scopus.com/inward/record.url?eid=2-s2.0-85019539928&partnerID=MN8TOARS.
    10.1007/s12035-017-0593-4
  20. Renaud, M.; Tranchant, C.; Martin, J.V.T.; Mochel, F.; Synofzik, M.; van de Warrenburg, B.; Pandolfo, M.; et al. "A recessive ataxia diagnosis algorithm for the next generation sequencing era". Annals of Neurology 82 6 (2017): 892-899. http://www.scopus.com/inward/record.url?eid=2-s2.0-85034584658&partnerID=MN8TOARS.
    10.1002/ana.25084
  21. 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
  22. Morais, S.; Raymond, L.; Mairey, M.; Coutinho, P.; Brandão, E.; Ribeiro, P.; Loureiro, J.L.; et al. "Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias". European Journal of Human Genetics 25 11 (2017): 1217-1228. http://www.scopus.com/inward/record.url?eid=2-s2.0-85031283104&partnerID=MN8TOARS.
    10.1038/ejhg.2017.124
  23. Aquino, J.; Ribeiro, V.; Alonso, I.; Ramos, F.; Vasconcelos, M.. "Ataxia telangiectasia-like disorder: A child with a novel variant in MRE11A gene | Ataxia-telangiectasia like: Una adolescente portadora de una nueva variante del gen MRE11A". Revista de Neurologia 65 3 (2017): 143-144. http://www.scopus.com/inward/record.url?eid=2-s2.0-85032496864&partnerID=MN8TOARS.
  24. Sousa, A.L.; Alonso, I.; Magalhães, M.. "A Portuguese rapid-onset dystonia-parkinsonism case with atypical features". Neurological Sciences 38 9 (2017): 1713-1714. http://www.scopus.com/inward/record.url?eid=2-s2.0-85019260495&partnerID=MN8TOARS.
    10.1007/s10072-017-2996-4
  25. Neto, J.L.; Lee, J.-M.; Afridi, A.; Gillis, T.; Guide, J.R.; Dempsey, S.; Lager, B.; et al. "Genetic contributors to intergenerational CAG repeat instability in Huntington’s disease knock-in mice". Genetics 205 2 (2017): 503-516. http://www.scopus.com/inward/record.url?eid=2-s2.0-85021849174&partnerID=MN8TOARS.
    10.1534/genetics.116.195578
  26. Gheno, T.C.; Furtado, G.V.; Saute, J.A.M.; Donis, K.C.; Fontanari, A.M.V.; Emmel, V.E.; Pedroso, J.L.; et al. "Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil". European Journal of Neurology 24 7 (2017): 892-e36. http://www.scopus.com/inward/record.url?eid=2-s2.0-85019672148&partnerID=MN8TOARS.
    10.1111/ene.13281
  27. Taipa, R.; Pereira, C.; Reis, I.; Alonso, I.; Bastos-Lima, A.; Melo-Pires, M.; Magalhães, M.. "DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology". Brain 139 6 (2016): 1680-1687. http://www.scopus.com/inward/record.url?eid=2-s2.0-84978829850&partnerID=MN8TOARS.
    10.1093/brain/aww080
  28. da Conceição Pereira, M.; Morais, S.; Sequeiros, J.; Alonso, I.. "Large-scale functional RNAi Screen in C. elegans identifies TGF-ß and notch signaling pathways as modifiers of CACNAIA". ASN Neuro 8 2 (2016): http://www.scopus.com/inward/record.url?eid=2-s2.0-84961625995&partnerID=MN8TOARS.
    10.1177/1759091416637025
  29. Morais, S.; Bastos-Ferreira, R.; Sequeiros, J.; Alonso, I.. "Genomic mechanisms underlying PARK2 large deletions identified in a cohort of patients with PD". Neurology: Genetics 2 3 (2016): http://www.scopus.com/inward/record.url?eid=2-s2.0-85013614357&partnerID=MN8TOARS.
    10.1212/NXG.0000000000000073
  30. Ramos, E.M.; Kovalenko, M.; Guide, J.R.; St. Claire, J.; Gillis, T.; Mysore, J.S.; Sequeiros, J.; et al. "Chromosome substitution strain assessment of a Huntington’s disease modifier locus". Mammalian Genome 26 3-4 (2015): 119-130. http://www.scopus.com/inward/record.url?eid=2-s2.0-84940002551&partnerID=MN8TOARS.
    10.1007/s00335-014-9552-9
  31. Coutelier, M.; Goizet, C.; Durr, A.; Habarou, F.; Morais, S.; Dionne-Laporte, A.; Tao, F.; et al. "Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia". Brain 138 8 (2015): 2191-2205. http://www.scopus.com/inward/record.url?eid=2-s2.0-84940092804&partnerID=MN8TOARS.
    10.1093/brain/awv143
  32. Ramos, E.M.; Gillis, T.; Mysore, J.S.; Lee, J.-M.; Gögele, M.; D'Elia, Y.; Pichler, I.; et al. "Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease". American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 168 2 (2015): 135-143. http://www.scopus.com/inward/record.url?eid=2-s2.0-84923108709&partnerID=MN8TOARS.
    10.1002/ajmg.b.32289
  33. Porto, G.; Brissot, P.; Swinkels, D.W.; Zoller, H.; Kamarainen, O.; Patton, S.; Alonso, I.; Morris, M.; Keeney, S.. "EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH)". European Journal of Human Genetics (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84936976676&partnerID=MN8TOARS.
    10.1038/ejhg.2015.128
  34. Tomás, J.; Gouveia, A.; Galego, O.; Alonso, I.; Macário, M.C.. "Vanishing white matter disease: Clinical and imaging description of seven adult patients | Leucoencefalopatia com desaparecimento de substância branca: Descrição clínica e imagiológica de sete doentes adultos". Sinapse 15 2 (2015): 13-18. http://www.scopus.com/inward/record.url?eid=2-s2.0-84971622997&partnerID=MN8TOARS.
  35. 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 (2015): http://www.scopus.com/inward/record.url?eid=2-s2.0-84939553337&partnerID=MN8TOARS.
    10.1038/ejhg.2015.180
  36. Moreira, I.; Bastos-Ferreira, R.; Silva, J.; Ribeiro, C.; Alonso, I.; Chaves, J.. "Paternal transmission of subcortical band heterotopia through DCX somatic mosaicism". Seizure 25 (2015): 62-64. http://www.scopus.com/inward/record.url?eid=2-s2.0-84923228256&partnerID=MN8TOARS.
    10.1016/j.seizure.2014.12.005
  37. Bras, J.; Alonso, I.; Barbot, C.; Costa, M.M.; Darwent, L.; Orme, T.; Sequeiros, J.; et al. "Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4". American Journal of Human Genetics 96 3 (2015): 474-479. http://www.scopus.com/inward/record.url?eid=2-s2.0-84924246336&partnerID=MN8TOARS.
    10.1016/j.ajhg.2015.01.005
  38. Menezes Cordeiro, I.; Nzwalo, H.; Sá, F.; Ferreira, R.B.; Alonso, I.; Afonso, L.; Basílio, C.. "Shifting the CARASIL Paradigm: Report of a Non-Asian Family and Literature Review". Stroke 46 4 (2015): 1110-1112. http://www.scopus.com/inward/record.url?eid=2-s2.0-84930814099&partnerID=MN8TOARS.
    10.1161/STROKEAHA.114.006735
  39. Ramos, E.M.; Gillis, T.; Mysore, J.S.; Lee, J.-M.; Alonso, I.; Gusella, J.F.; Smoller, J.W.; et al. "Prevalence of Huntington's disease gene CAG trinucleotide repeat alleles in patients with bipolar disorder". Bipolar Disorders 17 4 (2015): 403-408. http://www.scopus.com/inward/record.url?eid=2-s2.0-84930415637&partnerID=MN8TOARS.
    10.1111/bdi.12289
  40. Paucar, M.; Alonso, I.; Eriksson, M.; Beniaminov, S.; Coutinho, P.; Svenningsson, P.. "Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1". Movement Disorders Clinical Practice 2 1 (2015): 90-92. http://www.scopus.com/inward/record.url?eid=2-s2.0-85067376941&partnerID=MN8TOARS.
    10.1002/mdc3.12112
  41. Castilhos, R.M.; Souza, A.F.D.; Furtado, G.V.; Gheno, T.C.; Silva, A.L.; Vargas, F.R.; Lima, M.-A.F.D.; et al. "Huntington disease and Huntington disease-like in a case series from Brazil". Clinical Genetics 86 4 (2014): 373-377. http://www.scopus.com/inward/record.url?eid=2-s2.0-84908229180&partnerID=MN8TOARS.
    10.1111/cge.12283
  42. 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
  43. Barros, J.; Ruano, L.; Domingos, J.; Tuna, A.; Damásio, J.; Alonso, I.; Silveira, I.; Sequeiros, J.; Coutinho, P.. "The prevalence of familial hemiplegic migraine with cerebellar ataxia and spinocerebellar ataxia type 6 in portugal". Headache 54 5 (2014): 911-915. http://www.scopus.com/inward/record.url?eid=2-s2.0-84899900849&partnerID=MN8TOARS.
    10.1111/head.12260
  44. 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
  45. Coutinho, P.; Ruano, L.; Loureiro, J.L.; Cruz, V.T.; Barros, J.; Tuna, A.; Barbot, C.; et al. "Hereditary ataxia and spastic paraplegia in Portugal: A population-based prevalence study". JAMA Neurology 70 6 (2013): 746-755. http://www.scopus.com/inward/record.url?eid=2-s2.0-84878770734&partnerID=MN8TOARS.
    10.1001/jamaneurol.2013.1707
  46. Barros, J.; Damásio, J.; Tuna, A.; Alves, I.; Silveira, I.; Pereira-Monteiro, J.; Sequeiros, J.; et al. "Cerebellar ataxia, hemiplegic migraine, and related phenotypes due to a CACNA1A missense mutation: 12-year follow-up of a large portuguese family". JAMA Neurology 70 2 (2013): 235-240. http://www.scopus.com/inward/record.url?eid=2-s2.0-84874027219&partnerID=MN8TOARS.
    10.1001/jamaneurol.2013.591
  47. 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.
  48. 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
  49. Ramos, E.M.; Latourelle, J.C.; Gillis, T.; Mysore, J.S.; Squitieri, F.; Di Pardo, A.; Di Donato, S.; et al. "Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset". Neurogenetics 14 3-4 (2013): 173-179. http://www.scopus.com/inward/record.url?eid=2-s2.0-84888063832&partnerID=MN8TOARS.
    10.1007/s10048-013-0364-y
  50. Loureiro, J.L.; Brandão, E.; Ruano, L.; Brandão, A.F.; Lopes, A.M.; Thieleke-Matos, C.; Miller-Fleming, L.; et al. "Autosomal dominant spastic paraplegias: A review of 89 families resulting from a Portuguese survey". JAMA Neurology 70 4 (2013): 481-487. http://www.scopus.com/inward/record.url?eid=2-s2.0-84876133160&partnerID=MN8TOARS.
    10.1001/jamaneurol.2013.1956
  51. Conceiço Pereira, M.; Loureiro, J.L.; Pinto-Basto, J.; Brando, E.; Margarida Lopes, A.; Neves, G.; Dias, P.; et al. "Alu elements mediate large SPG11 gene rearrangements: Further spatacsin mutations". Genetics in Medicine 14 1 (2012): 143-151. http://www.scopus.com/inward/record.url?eid=2-s2.0-84855558170&partnerID=MN8TOARS.
    10.1038/gim.2011.7
  52. 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
  53. 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
  54. Ramos, E.M.; Keagle, P.; Gillis, T.; Lowe, P.; Mysore, J.S.; Leclerc, A.L.; Ratti, A.; et al. "Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients". Amyotrophic Lateral Sclerosis 13 3 (2012): 265-269. http://www.scopus.com/inward/record.url?eid=2-s2.0-84860387378&partnerID=MN8TOARS.
    10.3109/17482968.2011.653573
  55. Ramos, E.M.; Latourelle, J.C.; Lee, J.-H.; Gillis, T.; Mysore, J.S.; Squitieri, F.; Di Pardo, A.; et al. "Population stratiWcation may bias analysis of PGC-1a as a modiWer of age at Huntington disease motor onset". Human Genetics 131 12 (2012): 1833-1840. http://www.scopus.com/inward/record.url?eid=2-s2.0-84870996209&partnerID=MN8TOARS.
    10.1007/s00439-012-1205-z
  56. Emmel, V.E.; Alonso, I.; Jardim, L.B.; Saraiva-Pereira, M.L.; Sequeiros, J.. "Does DNA methylation in the promoter region of the ATXN3 gene modify age at onset in MJD (SCA3) patients?". Clinical Genetics 79 1 (2011): 100-102. http://www.scopus.com/inward/record.url?eid=2-s2.0-78650010388&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2010.01508.x
  57. 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
  58. Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; et al. "FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes". Behavioral and Brain Functions 7 (2011): http://hdl.handle.net/10400.18/739.
    doi:10.1186/1744-9081-7-19
  59. 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
  60. Spears, M.D.; Melton, S.; Mao, Q.; Payne, D.; Rakheja, D.; Hatanpaa, K.J.; Burns, D.K.; Sequeiros, J.; Alonso, I.. "Ataxia and progressive encephalopathy in a 4-year-old girl". Laboratory Medicine 41 1 (2010): 5-9. http://www.scopus.com/inward/record.url?eid=2-s2.0-77952007680&partnerID=MN8TOARS.
    10.1309/LMSGOL1I3U5QTWRS
  61. 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
  62. Ramos, E.M.; Martins, S.; Alonso, I.; Emmel, V.E.; Saraiva-Pereira, M.L.; Jardim, L.B.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)". American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics 153 2 (2010): 524-531. http://www.scopus.com/inward/record.url?eid=2-s2.0-77349087351&partnerID=MN8TOARS.
    10.1002/ajmg.b.31013
  63. Gazulla, J.; Benavente, I.; López-Fraile, I.P.; Tordesillas, C.; Modrego, P.; Alonso, I.; Pinto-Basto, J.. "Sensory neuronopathy in ataxia with oculomotor apraxia type 2". Journal of the Neurological Sciences 298 1-2 (2010): 118-120. http://www.scopus.com/inward/record.url?eid=2-s2.0-77958153343&partnerID=MN8TOARS.
    10.1016/j.jns.2010.09.004
  64. Sequeiros, J.; Ramos, E.M.; Cerqueira, J.; Costa, M.C.; Sousa, A.; Pinto-Basto, J.; Alonso, I.. "Large normal and reduced penetrance alleles in Huntington disease: Instability in families and frequency at the laboratory, at the clinic and in the population". Clinical Genetics 78 4 (2010): 381-387. http://www.scopus.com/inward/record.url?eid=2-s2.0-77956413099&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2010.01388.x
  65. Sequeiros, Jorge; Martindale, Joanne; Seneca, Sara. "EMQN Best Practice Guidelines for molecular genetic testing of SCAs Prepared on behalf of the European Molecular Quality Genetics Network (EMQN)". European Journal of Human Genetics 18 11 (2010): 1173-1176. http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000283314700001&KeyUID=WOS:000283314700001.
    10.1038/ejhg.2010.8
  66. Marques, J.M.; Alonso, I.; Santos, C.; Silveira, I.; Olsson, I.A.S.. "The spatial learning phenotype of heterozygous leaner mice is robust to systematic variation of the housing environment". Comparative Medicine 59 2 (2009): 129-138. http://www.scopus.com/inward/record.url?eid=2-s2.0-65549099531&partnerID=MN8TOARS.
  67. Almeida, Teresa; Alonso, Isabel da Conceição Moreira Pereira; Martins, Sandra; Ramos, Eliana Marisa; Azevedo, Luísa; Ohno, Kinji; Amorim, Antonio; et al. "Ancestral origin of the ATTCT repeat expansion in spinocerebellar ataxia type 10 (SCA10)". PLoS ONE 4 2 (2009): http://hdl.handle.net/10183/24631.
    10.1371/journal.pone.0004553
  68. Alonso, Isabel; Marques, Joana M.; Sousa, Nuno; Sequeiros, Jorge; Olsson, I. Anna S.; Silveira, Isabel; Alonso, I.; et al. "Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutant". Neurobiology of Aging 29 11 (2008): 1733-1743. http://hdl.handle.net/1822/61412.
    10.1016/j.neurobiolaging.2007.04.005
  69. Trott, A.; Jardim, L.B.; Ludwig, H.T.; Saute, J.A.M.; Artigalás, O.; Kieling, C.; Wanderley, H.Y.C.; et al. "Spinocerebellar ataxias in 114 Brazilian families: Clinical and molecular findings [3]". Clinical Genetics 70 2 (2006): 173-176. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745827039&partnerID=MN8TOARS.
    10.1111/j.1399-0004.2006.00656.x
  70. Alonso, I.; Jardim, L.B.; Artigalas, O.; Saraiva-Pereira, M.L.; Matsuura, T.; Ashizawa, T.; Sequeiros, J.; Silveira, I.. "Reduced penetrance of intermediate size alleles in spinocerebellar ataxia type 10". Neurology 66 10 (2006): 1602-1604. http://www.scopus.com/inward/record.url?eid=2-s2.0-33745373901&partnerID=MN8TOARS.
    10.1212/01.wnl.0000216266.30177.bb
  71. Alonso, I.; Costa, C.; Gomes, A.; Ferro, A.; Seixas, A.I.; Silva, S.; Cruz, V.T.; et al. "A novel H101Q mutation causes PKC¿ loss in spinocerebellar ataxia type 14". Journal of Human Genetics 50 10 (2005): 523-529. http://www.scopus.com/inward/record.url?eid=2-s2.0-27644562111&partnerID=MN8TOARS.
    10.1007/s10038-005-0287-z
  72. Alonso, I.; Barros, J.; Tuna, A.; Seixas, A.; Coutinho, P.; Sequeiros, J.; Silveira, I.. "A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel a1A-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine [6]". Clinical Genetics 65 1 (2004): 70-72. http://www.scopus.com/inward/record.url?eid=2-s2.0-1642555626&partnerID=MN8TOARS.
    10.1111/j..2004.00187.x
  73. Alonso, I.; Barros, J.; Tuna, A.; Coelho, J.; Sequeiros, J.; Silveira, I.; Coutinho, P.. "Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family". Archives of Neurology 60 4 (2003): 610-614. http://www.scopus.com/inward/record.url?eid=2-s2.0-0344406276&partnerID=MN8TOARS.
    10.1001/archneur.60.4.610
  74. Silveira, I.; Miranda, C.; Guimaraes, L.; Moreira, M.-C.; Alonso, I.; Mendonça, P.; Ferro, A.; et al. "Trinucleotide repeats in 202 families with ataxia: A small expanded (CAG) n allele at the SCA17 locus". Archives of Neurology 59 4 (2002): 623-629. http://www.scopus.com/inward/record.url?eid=2-s2.0-0036220140&partnerID=MN8TOARS.
    10.1001/archneur.59.4.623
  75. Jardim, L.B.; Silveira, I.; Pereira, M.L.; Ferro, A.; Alonso, I.; Do Céu Moreira, M.; Mendonça, P.; et al. "A survey of spinocerebellar ataxia South Brazil - 66 New cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations". Journal of Neurology 248 10 (2001): 870-876. http://www.scopus.com/inward/record.url?eid=2-s2.0-0034787294&partnerID=MN8TOARS.
    10.1007/s004150170072
  76. Silveira, I.; Alonso, I.; Guimarães, L.; Mendonça, P.; Santos, C.; Maciel, P.; Fidalgo de Matos, J.M.; et al. "High germinal instability of the (CTG)(n) at the SCA8 locus of both expanded and normal alleles". American Journal of Human Genetics 66 3 (2000): 830-840. http://www.scopus.com/inward/record.url?eid=2-s2.0-0033925737&partnerID=MN8TOARS.
    10.1086/302827
Thesis / Dissertation
  1. Alonso, Isabel. "Molecular characterization and pathogenic mechanism involved in dominant ataxias". PhD, 2006.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2018 Pseudogenes: a threat in WES diagnostics Molecular and Cytogenetics Club, 22nd SPGH Annual Meeting
2016 Hereditary ataxias: a review and update of 25 years XII Jornada de actualización en Genética Humana
2016 Next-generation sequencing approaches in neurogenetics 17th Portugaliae Genetica
2014 Approaches to the identification of genetic modifiers in neurological disorders ON.2 Symposium on Neurodegenerative Disorders
2013 Disease modifiers in movement disorders: Large scale functional RNAi screen in the C. elegans UNC-2 mutant IV Jornada Iberoamericana sobre Transtornos de Movimiento
2008 New insights from the natural mutant mouse leaner 11th Portugaliae Genetica

Supervision

Thesis Title
Role 		Degree Subject (Type)
Institution / Organization
2014 - Current Decoding microRNAs role in Machado-Joseph disease
Supervisor
 Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2013 - 2019 Modeling Parkinson’s disease in C. elegans: new interactors and modifier genes
Supervisor
 Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2013 - 2018 Unraveling new spastic paraplegia genes and their functions through next generation sequencing and functional characterization
Supervisor
 Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2016 - 2017 Identification of genetic modifiers of somatic CAG instability in Huntington’s Disease by in vivo CRISPR-Cas9 genome editing
Co-supervisor
 Bioengineering (Master)
Universidade do Porto Faculdade de Engenharia, Portugal
2013 - 2017 The role of genetic and epigenetic mechanisms as modifiers of age-at-onset (AO) in Familial Amyloid Polyneuropathy (FAP ATTRV30M)
Co-supervisor
 Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012 - 2017 The role of epigenetic mechanisms in the pathophysiology and as modifiers of Huntington’s disease
Supervisor
 Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2012 - 2013 Genetic characterization of patients with Familial Hemiplegic Migraine: CACNA1A, ATP1A2 and SCN1A mutations
Supervisor
 Biology (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2011 - 2012 Explore the role of parkin in endoplasmic reticulum stress and ER-associated protein degradation: cellular models for juvenile PD
Supervisor
 Biology (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2011 - 2012 Mutation screening of SPG21 and SYT14 genes in Portuguese patients with neurological disorder
Supervisor
 Biomedical Laboratory Sciences (Degree)
Instituto Politécnico do Porto, Portugal
2008 - 2012 Genetic modifiers in Huntington´s disease
Supervisor
 Biomedical Sciences (PhD)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2010 - 2011 Juvenile Parkinson disease caused by parkin mutation: characterization of large genomic deletions and pathogenic mechanisms
Supervisor
 Molecular Genetics and Biomedicine (Master)
Universidade Nova de Lisboa Faculdade de Ciências e Tecnologia, Portugal
2010 - 2011 Role of PKCgamma cleavage and autophagy in protein aggregation and clearence: Spinocerebellar ataxia type 14 as a neurodegeneration model
Supervisor
 Cell and Molecular Biology (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2008 - 2011 Study of the PRKCG gene in Portuguese patients with dominant ataxia
Supervisor
 Human Biology and Evolution Master (Master)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2009 - 2010 Genetic characterization of Portuguese families with Neurofibromatosis
Co-supervisor
 Biology (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2009 - 2010 Genetic Diagnosis of Neurofibromatosis type 2
Co-supervisor
 Medicine (Master)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2009 - 2010 Genetic Study of Maxillary Lateral Superior Incisors Agenesis
Supervisor
 Biology (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2009 - 2010 Genetic characterization of the SCN1A gene in patients with familial hemiplegic migraine
Supervisor
 Biology (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2008 - 2009 Genetic characterization of Portuguese families with Dominantly Inherited Spastic Paraplegia: Pathogenic Mechanisms mediated by Atlastin-1 Mutants
Supervisor
 Biochemistry (Master)
Universidade do Porto Faculdade de Ciências, Portugal
2008 - 2009 Genetic characterization of Portuguese patients with juvenile Parkinson’s disease
Supervisor
 Biology (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2008 - 2009 Mutational characterization of the ATP1A2 gene in patients with familial hemiplegic migraine
Supervisor
 Biology (Degree)
Universidade do Minho Escola de Ciências, Portugal
2008 - 2009 Genetic characterization of portuguese families with autosomal recessive spastic paraplegia
Supervisor
 Biochemistry (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2007 - 2008 DNA methylation pattern as modifier in Machado-Joseph disease
Co-supervisor
 Genetics and Molecular Biology (PhD)
Universidade Federal do Rio Grande do Sul, Brazil
2007 - 2008 Migraine: determination of susceptibility factors through association studies
Co-supervisor
 Biochemistry (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2007 - 2008 Haplotype studies in SCA2 families and role of intermediate size alleles
Co-supervisor
 Genetics (Scientific initiation)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2007 - 2008 Haplotype study origin determination of the (ATTCT)n expanded chromosomes in Brazilian and Mexican families with SCA10
Supervisor
 Genetics (Scientific initiation)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
2004 - 2005 Molecular analysis of the FGF14 gene in Portuguese patients with ataxia symptoms
Co-supervisor
 Biology (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
2003 - 2004 Molecular analysis of CACNA1A, FGF14, PRKCG and CBP genes in families with autosomal dominant forms of ataxia with associated migraine
Co-supervisor
 Biology (Degree)
Universidade do Porto Faculdade de Ciências, Portugal
1999 - 2001 Linkage analysis in families with hereditary spastic paraplegias and progressive cerebellar ataxia associated with hemiplegic migraine
Co-supervisor
 Genetics (Scientific initiation)
Universidade do Porto Instituto de Biologia Molecular e Celular, Portugal
1999 - 2000 Molecular analysis of candidate genes in ataxia families without molecular diagnosis
Co-supervisor
 Biochemistry (Degree)
Universidade do Porto Faculdade de Ciências, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2019 Genomic approach in idiopathic intellectual disability
Thesis Member
 Maria de Fátima Costa Torres (PhD)
2018 Unraveling new spastic paraplegia genes and their functions through next generation sequencing and functional characterization
Supervisor
 Sara Morais (PhD)
2018 Evaluation of the neuroprotective effects of medicinal plants
(Thesis) Main arguer
 Daniela Vilas Boas da Silva Campos (Master)
2015 Studies on the onset of the neurodegenerative disease Spinocerebellar Ataxia Type 3 (SCA3) using Drosophila melanogaster as model
(Thesis) Main arguer
 Mariana Figueiredo (Other)
2014 Copy number variation and Huntington’s disease
(Thesis) Main arguer
 Angelica Vittori (PhD)
2013 Genetic modifiers in Huntington´s disease
Supervisor
 Eliana Marisa Ramos (PhD)
2012 Hereditary Spastic Paraplegia: a clinical and genetic study
Thesis Member
 José Leal Loureiro (PhD)
2012 Consequences of Alu-mediated recombination events
(Thesis) Main arguer
 Ana Carolina Silva (Master)
2012 Explore the role of parkin in endoplasmic reticulum stress and ER-associated protein degradation: cellular models for juvenile PD
Supervisor
 Miguel Ferreira (Master)
2012 Mutation screening of SPG21 and SYT14 genes in Portuguese patients with neurological disorder
Supervisor
 Sara Martins (Other)
2011 Study of mental retardation in Portugal: development of methods for the detection of altered gene dosage
(Thesis) Main arguer
 Susana Sousa (Master)
2011 Juvenile Parkinson disease caused by parkin mutation: characterization of large genomic deletions and pathogenic mechanisms
Supervisor
 Sara Morais (Master)
2011 Role of PKCgamma cleavage and autophagy in protein aggregation and clearence: Spinocerebellar ataxia type 14 as a neurodegeneration model
Supervisor
 Conceição Pereira (Master)
2011 Study of the PRKCG gene in Portuguese patients with dominant ataxia
Supervisor
 Carla Martins (Master)
2009 Genetic characterization of Portuguese families with Dominantly Inherited Spastic Paraplegia: Pathogenic Mechanisms mediated by Atlastin-1 Mutants
Supervisor
 Ana Brandão (Master)
2009 Genetic characterization of Portuguese families with autosomal recessive spastic paraplegia
Supervisor
 Conceição Pereira (Other)
2009 Mutational characterization of the ATP1A2 gene in patients with familial hemiplegic migraine
Supervisor
 Rita Marques (Other)
2008 Migraine: determination of susceptibility factors through association studies
Supervisor
 João Neto (Other)

Association member

Society Organization name Role
2010 - Current Ibero-American Research Network for Ataxias and Parkinson (RIBERMOV)
2009 - Current Clinical and Genetic Analysis of Spastic Paraplegia and Ataxia (SPATAX)
2008 - Current Ataxia Study Group (ASG)
2007 - Current European Huntington’s Disease Network (EHDN)
Distinctions

Award

2017 2nd place Sollari Allegro award
Centro Hospitalar Universitário do Porto EPE, Portugal
2015 3rd place António Flores award
Portuguese Neurology Society, Portugal
2014 3rd place Tecnifar Headache award
Portuguese Headache Society/Tecnifar, Portugal
2013 1st place Tecnifar Headache
Portuguese Headache Society/Tecnifar, Portugal
2012 2nd place Tecnifar Headache award
Portuguese Headache Society/Tecnifar, Portugal
2012 3rd place Tecnifar Headache award
Portuguese Headache Society/Tecnifar, Portugal
2011 1st place Tecnifar Headache award
Portuguese Headache Society/Tecnifar, Portugal
2011 2nd place Tecnifar Headache award
Portuguese Headache Society/Tecnifar, Portugal
2010 1st place Tecnifar Headache award
Portuguese Headache Society/Tecnifar, Portugal
2007 1st place Professor Amândio Tavares award
Centro de Genética Clínica e Patologia SA, Portugal
2004 Gulbenkian Program for Research Stimulus
Fundação Calouste Gulbenkian, Portugal
2004 2nd place Tecnifar Headache award
Portuguese Headache Society/Tecnifar, Portugal