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For more than two decades, my focus has been on investigating myotonic dystrophy type 1 (DM1) and trinucleotide repeat expansion diseases. My research is conducted at the renowned Myology Research Centre (Inserm UMRS974), a leading institution in neuromuscular disease research. Within this renowned research centre, I integrate the "Repeat Expansions and Myotonic Dystrophies" laboratory. Our multifaceted research team combines unique scientific and clinical expertise, in a true synergistic and translational effort to address the complex genetics of the disease, the intricate downstream pathophysiological consequences, and the development of new therapeutic tools. As part of this large laboratory, I lead the group “RNA toxicity and brain cell communication”, which explores the molecular and cellular mechanisms of brain dysfunction in DM1. Our pioneering work has provided conceptual advances on the involvement of synaptic protein and glial cell dysfunction in DM1. I have authored more than 25 research papers, filed two patent applications and participated in more than 10 national and international collaborations with academic and industrial partners.
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Identificação

Identificação pessoal

Nome completo
Mario Rui Santos Gomes Pereira

Nomes de citação

  • Gomes-Pereira, Mário

Identificadores de autor

Ciência ID
D410-0975-E4F9
ORCID iD
0000-0002-3533-0873

Endereços de correio eletrónico

  • mario.pereira@inserm.fr (Profissional)

Websites

Domínios de atuação

  • Ciências Médicas e da Saúde

Idiomas

Idioma Conversação Leitura Escrita Compreensão Peer-review
Português Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2)
Inglês Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2)
Francês Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2) Utilizador proficiente (C2)
Formação
Grau Classificação
2014/10 - 2015/11
Concluído
 Habilitation a Diriger des Recherches (Título de Habilitação de Coordenação Científica)
Especialização em Medecine
Université Paris Descartes, França
1998/10/01 - 2004/12/06
Concluído
 PhD in Molecular Genetics (Doctor)
University of Glasgow, Reino Unido
"Genetic and Environmental Modifiers of Somatic Trinucleotide Repeat Dynamics" (TESE/DISSERTAÇÃO)
1997/09 - 1998/09
Concluído
 Gulbenkian PhD Programme in Biology and Medicine (Curso de doutoramento (conclusão de unidades curriculares))
Instituto Gulbenkian de Ciência, Portugal
1993/09 - 1997/10
Concluído
 Bioquímica (Licenciatura)
Especialização em Applied Biochemistry
Universidade do Porto, Portugal
"Production and analysis of synthetic variants of transthyretin" (TESE/DISSERTAÇÃO)
 18
Percurso profissional

Ciência

Categoria Profissional
Instituição de acolhimento 		Empregador
2023/11/01 - Atual Investigador Coordenador (carreira) (Investigação) INSERM Délégation régionale Paris Île-de-France Centre Est, França
2007/10/01 - 2023/10/31 Investigador principal (carreira) (Investigação) INSERM, França
2004/10/01 - 2007/09/30 Pós-doutorado (Investigação) INSERM, França
2002/07/01 - 2004/07/31 Pós-doutorado (Investigação) University of Glasgow, Reino Unido
2002/07/15 - 2002/07/31 Investigador visitante (Investigação) Radboud Universiteit, Países Baixos
Projetos

Bolsa

Designação Financiadores
2025/04 - 2027/03 RNA biology and neuroglial function: resolving the cellular and subcellular transcriptome in myotonic dystrophy brains, towards new brain gene therapy
Neurogliosolve
Orientador
INSERM Délégation régionale Paris Île-de-France Centre Est, França
 European Commission
Em curso
2023/06 - 2025/12 Real-time assessment of mitochondrial function and energy homeostasis in pre-clinical models of neurological diseases (€129,004)
Manage
Investigador responsável
INSERM Délégation régionale Paris Île-de-France Centre Est, França
 Conseil régional d'Île-de-France
Em curso
2023/01 - 2025/12 RNA metabolism and astrocyte dysfunction in myotonic dystrophy
ANR-22-CE12-0028-01
INSERM Délégation régionale Paris Île-de-France Centre Est, França
 Agence nationale de la recherche
2024/01 - 2024/12 Deconvolution of altered RNA metabolism in brain diseases: a new MERSCOPE roadmap to resolve the spatial transcriptome vulnerability of neuroglial cells in DM1 (€80,000)
DM1_Brain
Investigador responsável
INSERM Délégation régionale Paris Île-de-France Centre Est, França
 Human Cellular Neuroscience Platform
Em curso
2023/01 - 2024/12 Alterations in brain glutamate and GABA neurotransmissions in DM1 disease: focus on neuronal subpopulations and related electrophysiological signals
24296
 AFM
2023/01 - 2024/12 Abnormal astrocyte morphology and cytoskeleton in the brain impairment of myotonic dystrophy.
GRT-2022A/2120
 Fondation Jérôme-Lejeune
2019/07 - 2022/01 Contribution of Axonal Transport Deficits to Brain Impairment and Intellectual Disability in Myotonic Dystrophy
1869
 Fondation Jérôme Lejeune
2017/03/01 - 2020/04/30 RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains (€623,989)
DM_Neuroglia
Investigador
INSERM, França
 Agence nationale de la recherche
Em curso
2017/01 - 2020/01 RNA toxicity and neuroglial miscommunication in myotonic dystrophy brains – DM_Neuroglia
ANR-16-CE16-0005
 Agence nationale de la recherche
2016/09/01 - 2019/12/31 DM1 disease mechanisms in the central nervous system: from brain cell-specific pathogenesis to glutamate dysfunction (€120,000)
19920
Investigador responsável
INSERM, França
 AFM
Em curso
2012/09 - 2016/09 Synaptic and cytoskeleton dysfunction in DM1 transgenic mice (€120,000)
16161
Investigador responsável
INSERM, França
 AFM
Concluído
2012/03 - 2014/02 Sleep patterns and distribution in a transgenic mouse model of DM1 (€22,000)
DM1_sleep
Investigador responsável
INSERM, França
 Marigold Foundation
Concluído
2012/03 - 2013/02 Mouse brain imaging in a transgenic mouse model of myotonic dystrophy (€10,000)
DM1_mouseimaging
Investigador responsável
INSERM, França
 Marigold Foundation
Concluído
2010/10 - 2012/09 Molecular and cellular dissection of neurological dysfunction in myotonic dystrophy type 1 (€90,000)
14687
Investigador responsável
INSERM, França
 AFM
Concluído
2005/08 - 2007/07 Dissecting the molecular pathways of brain dysfunction in myotonic dystrophy
10046
 European Commission
2005/10 - 2007/03 Dissecting the molecular pathways of brain dysfunction in myotonic dystrophy (€147,150)
010046
Bolseiro de Pós-Doutoramento
INSERM, França
 European Commission
Concluído
2004/10 - 2005/09 Genetics and molecular biology of DM1 brain dysfunction
BPD/17140/2004
Bolseiro de Pós-Doutoramento
INSERM, França
 Associação para a Inovação e Desenvolvimento da FCT
Concluído
2002/07 - 2004/08 Trans-acting chemical modifiers of DNA repeat stability in vitro and in vivo - towards novel therapies in the triplet repeat expansion disorders.
066213/Z/01/Z
 Wellcome Trust

Projeto

Designação Financiadores
2025/01 - 2025/12 Cytoskeletal abnormalities in the brain pathology of myotonic dystrophy type 1 (€44,000)
DM1_Cytoskeleton
INSERM Délégation régionale Paris Île-de-France Centre Est, França
 Marigold Foundation
Em curso
2011/06 - 2011/12 Electrophysiological profiling of a mouse model of myotonic dystrophy type 1
10546A10
Investigador responsável
INSERM, França
 BioMarin Nederland
Concluído
Produções

Publicações

Artigo em revista
  1. Tahraoui-Bories J; Mérien A; González-Barriga A; Lainé J; Leteur C; Polvèche H; Carteron A; et al. "MBNL-dependent impaired development within the neuromuscular system in myotonic dystrophy type 1.". Neuropathology and applied neurobiology (2023): https://doi.org/10.1111/nan.12876.
    10.1111/nan.12876
  2. Dincã DM; Louison Lallemant; Anchel González-Barriga; Noemie cresto; Sandra Braz; Géraldine Sicot; Pillet LE; et al. "Author Correction: Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes.". Nature communications (2022): https://europepmc.org/articles/PMC9283397.
    10.1038/s41467-022-31774-7
  3. Dincã DM; Louison Lallemant; Anchel González-Barriga; Noemie cresto; Sandra Braz; Géraldine Sicot; Pillet LE; et al. "Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes.". Nature communications (2022): https://europepmc.org/articles/PMC9253038.
    10.1038/s41467-022-31594-9
  4. Potier, Brigitte; Lallemant, Louison; Parrot, Sandrine; Huguet-Lachon, Aline; Gourdon, Geneviève; Dutar, Patrick; Gomes-Pereira, Mário. "DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus". International Journal of Molecular Sciences 23 2 (2022): 592. http://dx.doi.org/10.3390/ijms23020592.
    10.3390/ijms23020592
  5. Parrot, Sandrine; Corscadden, Alex; Lallemant, Louison; Benyamine, Hélène; Comte, Jean-Christophe; Huguet-Lachon, Aline; Gourdon, Geneviève; Gomes-Pereira, Mário. "Defects in Mouse Cortical Glutamate Uptake Can Be Unveiled In Vivo by a Two-in-One Quantitative Microdialysis". ACS Chemical Neuroscience 13 1 (2021): 134-142. http://dx.doi.org/10.1021/acschemneuro.1c00634.
    10.1021/acschemneuro.1c00634
  6. González-Barriga, Anchel; Lallemant, Louison; Dincã, Diana M.; Braz, Sandra O.; Polvèche, Hélène; Magneron, Paul; Pionneau, Cédric; et al. "Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1". Frontiers in Cellular Neuroscience 15 (2021): http://dx.doi.org/10.3389/fncel.2021.662035.
    10.3389/fncel.2021.662035
  7. Mário Gomes-Pereira; Darren Monckton. "Chronic Exposure to Cadmium and Antioxidants Does Not Affect the Dynamics of Expanded CAG•CTG Trinucleotide Repeats in a Mouse Cell Culture System of Unstable DNA". Frontiers in Cellular Neuroscience (2021): https://hal.sorbonne-universite.fr/hal-03148527.
    10.3389/fncel.2020.606331
  8. "Real Time Videomicroscopy and Semiautomated Analysis of Brain Cell Culture Models of Trinucleotide Repeat Expansion Diseases.". Methods in molecular biology (Clifton, N.J.) (2020): https://doi.org/10.1007/978-1-4939-9784-8_14.
    10.1007/978-1-4939-9784-8_14
  9. Braz SO; Dinca DM; Gourdon G; Gomes-Pereira, M.. "Real time videomicroscopy and semi-automated analysis of brain cell culture models of trinucleotide repeat expansion diseases". Methods in Molecular Biology (2019):
    No prelo
  10. Braz, Sandra O.; Acquaire, Julien; Gourdon, Geneviève; Gomes-Pereira, Mário. "Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy". Frontiers in Neurology 9 (2018): http://dx.doi.org/10.3389/fneur.2018.00519.
    10.3389/fneur.2018.00519
  11. Sicot G; Servais L; Dinca DM; Leroy A; Prigogine C; Medja F; Braz SO; et al. "Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy.". (2017): http://europepmc.org/abstract/med/28658620.
    10.1016/j.celrep.2017.06.006
  12. Gomes-Pereira M; Monckton DG. "Ethidium Bromide Modifies The Agarose Electrophoretic Mobility of CAG•CTG Alternative DNA Structures Generated by PCR.". (2017): http://europepmc.org/abstract/med/28611596.
    10.3389/fncel.2017.00153
  13. Bosco, G.; Diamanti, S.; Meola, G.. "Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2–3 December 2014, Milan, Italy". Neuromuscular Disorders 25 10 (2015): 813-823. http://dx.doi.org/10.1016/j.nmd.2015.07.016.
    10.1016/j.nmd.2015.07.016
  14. Gomes-Pereira M; Hilley JD; Morales F; Adam B; James HE; Monckton DG. "Disease-associated CAG·CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion.". (2014): http://europepmc.org/abstract/med/24860168.
    10.1093/nar/gku285
  15. Bugiardini, E.; Meola, G.. "Consensus on cerebral involvement in myotonic dystrophy". Neuromuscular Disorders 24 5 (2014): 445-452. http://dx.doi.org/10.1016/j.nmd.2014.01.013.
    10.1016/j.nmd.2014.01.013
  16. Tomé S; Nicole A; Gomes-Pereira M; Gourdon G. "Non-radioactive detection of trinucleotide repeat size variability.". (2014): http://europepmc.org/abstract/med/24611127.
    10.1371/currents.md.ad50113b899fa1352ce70c087eead706
  17. Sicot G; Gomes-Pereira M. "RNA toxicity in human disease and animal models: from the uncovering of a new mechanism to the development of promising therapies.". (2013): http://europepmc.org/abstract/med/23500957.
    10.1016/j.bbadis.2013.03.002
  18. Hernández-Hernández, O.; Guiraud-Dogan, C.; Sicot, G.; Huguet, A.; Luilier, S.; Steidl, E.; Saenger, S.; et al. "Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour". Brain 136 3 (2013): 957-970. http://www.scopus.com/inward/record.url?eid=2-s2.0-84874916176&partnerID=MN8TOARS.
    10.1093/brain/aws367
  19. Sicot, G.; Gomes-Pereira, M.. "RNA toxicity in human disease and animal models: from the uncovering of a new mechanism to the development of promising therapies.". Biochimica et biophysica acta 1832 9 (2013): 1390-1409. http://www.scopus.com/inward/record.url?eid=2-s2.0-84881229646&partnerID=MN8TOARS.
  20. Hernández-Hernández O; Sicot G; Dinca DM; Huguet A; Nicole A; Buée L; Munnich A; et al. "Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing.". (2013): http://europepmc.org/abstract/med/25003003.
    10.4161/rdis.25553
  21. Charizanis, K.; Lee, K.-Y.; Batra, R.; Goodwin, M.; Zhang, C.; Yuan, Y.; Shiue, L.; et al. "Muscleblind-like 2-Mediated Alternative Splicing in the Developing Brain and Dysregulation in Myotonic Dystrophy". Neuron 75 3 (2012): 437-450. http://www.scopus.com/inward/record.url?eid=2-s2.0-84864912095&partnerID=MN8TOARS.
    10.1016/j.neuron.2012.05.029
  22. Huguet, A.; Medja, F.; Nicole, A.; Vignaud, A.; Guiraud-Dogan, C.; Ferry, A.; Decostre, V.; et al. "Molecular, Physiological, and Motor Performance Defects in DMSXL Mice Carrying >1,000 CTG Repeats from the Human DM1 Locus". PLoS Genetics 8 11 (2012): http://www.scopus.com/inward/record.url?eid=2-s2.0-84870709348&partnerID=MN8TOARS.
    10.1371/journal.pgen.1003043
  23. Velázquez-Bernardino, P.; García-Sierra, F.; Hernández-Hernández, O.; Bermúdez De León, M.; Gourdon, G.; Gomes-Pereira, M.; Cisneros, B.. "Myotonic dystrophy type 1-associated CTG repeats disturb the expression and subcellular distribution of microtubule-associated proteins MAP1A, MAP2, and MAP6/STOP in PC12 cells". Molecular Biology Reports 39 1 (2012): 415-424. http://www.scopus.com/inward/record.url?eid=2-s2.0-84855203279&partnerID=MN8TOARS.
    10.1007/s11033-011-0753-y
  24. Sicot, G.; Gourdon, G.; Gomes-Pereira, M.. "Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: New findings and future challenges". Human Molecular Genetics 20 R2 (2011): 116-123. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856034458&partnerID=MN8TOARS.
    10.1093/hmg/ddr343
  25. Zu, T.; Gibbens, B.; Doty, N.S.; Gomes-Pereira, M.; Huguet, A.; Stone, M.D.; Margolis, J.; et al. "Non-ATG-initiated translation directed by microsatellite expansions". Proceedings of the National Academy of Sciences of the United States of America 108 1 (2011): 260-265. http://www.scopus.com/inward/record.url?eid=2-s2.0-78651105614&partnerID=MN8TOARS.
    10.1073/pnas.1013343108
  26. Gomes-Pereira, M.; Cooper, T.A.; Gourdon, G.. "Myotonic dystrophy mouse models: Towards rational therapy development". Trends in Molecular Medicine 17 9 (2011): 506-517. http://www.scopus.com/inward/record.url?eid=2-s2.0-80052033608&partnerID=MN8TOARS.
    10.1016/j.molmed.2011.05.004
  27. Brouwer, J.; Gourdon, G.; Gomes-Pereira, M.. "Dystrophie myotonique de Steinert: effet boule de neige des répétitions CTG.". Les Cahiers de Myologie 2011 5 (2011): 8-10.
    Publicado
  28. Gomes-Pereira, M.; Foiry, L.; Nicole, A.; Huguet, A.; Junien, C.; Munnich, A.; Gourdon, G.. "CTG trinucleotide repeat "big jumps": Large expansions, small mice". PLoS Genetics 3 4 (2007): 0488-0491. http://www.scopus.com/inward/record.url?eid=2-s2.0-34247641372&partnerID=MN8TOARS.
    10.1371/journal.pgen.0030052
  29. Guiraud-Dogan, C.; Huguet, A.; Gomes-Pereira, M.; Brisson, E.; Bassez, G.; Junien, C.; Gourdon, G.. "DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice". Biochimica et Biophysica Acta - Molecular Basis of Disease 1772 11-12 (2007): 1183-1191. http://www.scopus.com/inward/record.url?eid=2-s2.0-37049035297&partnerID=MN8TOARS.
    10.1016/j.bbadis.2007.08.004
  30. Gomes-Pereira, M.; Foiry, L.; Gourdon, G.. "Transgenic mouse models of unstable trinucleotide repeats: Toward an understanding of disease-associated repoeat size mutation". Genetic Instabilities and Neurological Diseases, Second Edition (2006): 563-583. http://www.scopus.com/inward/record.url?eid=2-s2.0-34247634326&partnerID=MN8TOARS.
    10.1016/B978-012369462-1/50037-5
  31. Gomes-Pereira, M.; Monckton, D.G.. "Chemical modifiers of unstable expanded simple sequence repeats: What goes up, could come down". Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis 598 1-2 (2006): 15-34. http://www.scopus.com/inward/record.url?eid=2-s2.0-33744937952&partnerID=MN8TOARS.
    10.1016/j.mrfmmm.2006.01.011
  32. Gomes-Pereira, M.; Monckton, D.G.. "Mouse tissue culture models of unstable triplet repeats.". Methods in molecular biology (Clifton, N.J.) 277 (2004): 215-227. http://www.scopus.com/inward/record.url?eid=2-s2.0-4544350816&partnerID=MN8TOARS.
    10.1385/1-59259-804-8:215
  33. Gomes-Pereira, M.; Fortune, M.T.; Ingram, L.; McAbney, J.P.; Monckton, D.G.. "Pms2 is a genetic enhancer of trinucleotide CAG-CTG repeat somatic mosaicism: Implications for the mechanism of triplet repeat expansion". Human Molecular Genetics 13 16 (2004): 1815-1825. http://www.scopus.com/inward/record.url?eid=2-s2.0-4444323468&partnerID=MN8TOARS.
    10.1093/hmg/ddh186
  34. Gomes-Pereira, M.; Bidichandani, S.I.; Monckton, D.G.. "Analysis of unstable triplet repeats using small-pool polymerase chain reaction.". Methods in molecular biology (Clifton, N.J.) 277 (2004): 61-76. http://www.scopus.com/inward/record.url?eid=2-s2.0-4544376726&partnerID=MN8TOARS.
  35. Gomes-Pereira, M.; Monckton, D.G.. "Chemically induced increases and decreases in the rate of expansion of a CAG·CTG triplet repeat". Nucleic Acids Research 32 9 (2004): 2865-2872. http://www.scopus.com/inward/record.url?eid=2-s2.0-3042810192&partnerID=MN8TOARS.
    10.1093/nar/gkh612
  36. Gomes-Pereira M; Bidichandani SI; Monckton DG. "Analysis of unstable triplet repeats using small-pool polymerase chain reaction.". (2004): http://europepmc.org/abstract/med/15201449.
    10.1385/1-59259-804-8:061
  37. Gomes-Pereira M; Monckton DG. "Mouse tissue culture models of unstable triplet repeats.". (2004): http://europepmc.org/abstract/med/15201459.
    10.1385/1-59259-804-8:215
  38. Gomes-Pereira M; Fortune MT; Monckton DG. "Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates.". (2001): http://europepmc.org/abstract/med/11285250.
    10.1093/hmg/10.8.845
  39. Gomes-Pereira, M.; Fortune, M.T.; Monckton, D.G.. "Mouse tissue culture models of unstable triplet repeats: In vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates". Human Molecular Genetics 10 8 (2001): 845-854. http://www.scopus.com/inward/record.url?eid=2-s2.0-0035311021&partnerID=MN8TOARS.
Capítulo de livro
  1. Gomes-Pereira, M.; Foiry, L.; Gourdon, G.. "Transgenic mouse models of unstable trinucleotide repeats: towards the understanding of disease-associated repeat size mutation". In Genetic Instabilities and Neurological Diseases, editado por Robert D. Wells; Tetsuo Ashizawa. San Diego, Estados Unidos: Academic Press, 2006.
    Publicado
Poster em conferência
  1. Gonzalez-Barriga A; Dinca DM; Braz SO; Cordier A; Chhuon C; Guerrera IC; Huguet-Lachon A; et al. "Combination of Omics Approaches to Study Molecular Abnormalities in Individual Brain Cell Types of a DM1 Mouse Model". Trabalho apresentado em International Myotonic Dystrophy Consortium Meeting, 2019.
  2. Dinca DM; Gonzalez-Barriga A; Braz SO; Bourgeois C; Sicot G; Chhuon C; Huguet-Lachon A; et al. "Toxic RNA affects astrocyte adhesion, spreading and migration in myotonic dystrophy, and impacts neuritogenesis through abnormal glial-neuronal interactions". Trabalho apresentado em European Glial Meeting 2019, 2019.
  3. Braz SO; Blain R; Chhuon C; Bourgeois C; Huguet-Lachon A; Schmitt A; Langui D; et al. "Investigating oligodendrocyte dysfunction in DM1 brain disease". Trabalho apresentado em European Glial Meeting, 2019.
  4. Potier B; Huguet-Lachon A; Gourdon G; Gomes-Pereira M; Dutar P. "Glutamate dysfunction at extrasynaptic site in hippocampus of mice model of myotonic dystrophy type 1 (DM1) disease.". Trabalho apresentado em NeuroFrance International Meeting, 2019.
  5. Dinca DM; Sicot G; Huguet-Lachon A; Gueriba N; Gourdon G; Gomes-Pereira M. "Abnormal neuroglial interactions in myotonic dystrophy". Trabalho apresentado em More than neurons: toward a less neurocentric view of brain disorders, 2016.
  6. Gomes-Pereira, M; Dinca DM; Sicot G; Braz SO; Leroy A; Medja F; Huguet-Lachon A; et al. "Upregulation of glial GLT1 glutamate transporter corrects Purkinje cell dysfunction and cerebellum-dependent motor incoordination in a mouse model of myotonic dystrophy". Trabalho apresentado em Society for Neuroscience Annual Meeting, 2016.
  7. Lallemant L; Dinca DM; Huguet A; Gourdon G; Gomes-Pereira M. "Investigating the axonal transport in mouse model of DM1 by time-lapse microscopy and FRAP". Trabalho apresentado em 10th annual graduate student Symposium MRC, Cambridge UK, 2016.
  8. Braz SO; Dinca DM; Huguet-Lachon A; Gourdon G; Gomes-Pereira M. "Investigating oligodendrocyte dysfunction in DM1 brain disease". Trabalho apresentado em 10th annual graduate student Symposium MRC, Cambridge UK, 2016.
  9. Dinca DM; Lallemant L; Sicot G; Huguet A; Gourdon G; Gomes-Pereira M. "Abnormal neuroglial interactions in myotonic dystrophy". Trabalho apresentado em 10th annual graduate student Symposium MRC, Cambridge UK, 2016.
  10. Sicot G; Servais L; Dinca DM; Prigogine C; Leroy A; Dan B; Medja F; et al. "Upregulation of glutamate transport corrects cerebellum dysfunction in a mouse model of myotonic dystrophy". Trabalho apresentado em Myology 2016, 2016.
  11. Dinca DM; Sicot G; Gradeck L; Gueriba N; Gourdon G; Gomes-Pereira M. "Brain cell specificity in DM1 neuropathogenesis". Trabalho apresentado em Myology 2016, 2016.
  12. Dinca DM; Sicot G; Gueriba N; Gourdon G; Gomes-Pereira M. "Investigating the brain cell specificity of DM1 neuropathogenesis". Trabalho apresentado em International Myotonic Dystrophy Consortium Meeting, 2015.
  13. Dinca DM; Sicot G; Gourdon G; Gomes-Pereira M. "Dissecting the mechanisms behind the DM1 brain dysfunction". Trabalho apresentado em Necker SFR symposium, 2014.
  14. Sicot G; Servais L; Dinca DM; Prigogine C; Leroy A; Dan B; Medja F; et al. "Upregulation of Glial GLT1 glutamate transporter corrects Purkinje cell dysfunction in a mouse model of myotonic dystrophy". Trabalho apresentado em Necker SFR symposium, 2014.
  15. Dinca DM; Sicot G; Gourdon G; Gomes-Pereira M. "Dissecting the mechanisms behind the DM1 brain dysfunction". Trabalho apresentado em Meeting of Young Researchers in Biology, 2014.
  16. Dinca DM; Sicot G; Gourdon G; Gomes-Pereira M. "Synaptic protein abnormalities in DM1 brain are not mediated by missplicing or developmental delays". Trabalho apresentado em Young Researchers in Life Science, 2014.
  17. Fernandez-Gomez F; Eddarkaoui S; Carrier S; Obriot H; Huguet A; Jumeau F; Carpentier C; et al. "Impact of endogenous tau in a mouse model of myotonic dystrophy". Trabalho apresentado em Society for Neuroscience Annual Meeting, 2013.
  18. Dinca DM; Sicot G; Huguet A; Nicole A; Munnich A; Gourdon G; Gomes-Pereira M. "RAB3A and SYN1 protein abnormalities in DM1 brain are not mediated by missplicing or developmental delays". Trabalho apresentado em International Myotonic Dystrophy Consortium Meeting, 2013.
  19. Sicot G; Prigogine C; Gall D; Medja F; Chhuon C; Fernandez-Gomez F; Guerrera IC; et al. "Molecular, electrophysiological and behavioural evidence of cerebellar dysfunction in a mouse model of myotonic dystrophy type I.". Trabalho apresentado em Annual Meeting of the European Society of Human Genetics, 2013.
  20. Huguet-Lachon A; Medja F; Nicole A; Vignaud A; Guiraud-Dogan C; Ferry A; Decostre V; et al. "Molecular, physiological and motor performance defects in DMSXL mice carrying >1000 CTG repeat from the human DM1 locus". Trabalho apresentado em Annual Meeting of the European Society of Human Genetics, 2013.
  21. Sicot G; Medja F; Gall D; Cheron G; Servais L; Fernandez-Gomez F; Munnich A; et al. "Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behavior". Trabalho apresentado em 7th International Conference on Unstable Microsatellites and Human Disease, 2012.
  22. Sicot G; Vaglio A; Fernandez-Gomez F; Bichara M; Huguet A; Nicole A; Servais L; et al. "Establishment and characterisation of brain cell culture model systems to investigate the cellular specificity of DM1 neuropathogenesis.". Trabalho apresentado em International Myotonic Dystrophy Consortium Meeting, 2011.
  23. Gomes-Pereira M; Huguet A; Hernández-Hernández O; Nicole A; Sicot G; Acquaire J; Brouwer J; Gourdon G. "Molecular and physiopathological consequences of CTG repeats expansion in a mouse model for myotonic dystrophy". Trabalho apresentado em ANR, Grand Colloque Biologie Santé., 2011.
  24. Hernández-Hernández O; Guiraud-Dogan C; Sicot G; Luilier S; Bizot JC; Bassez G; Hamon M; et al. "RNA toxicity, behavioural deficits and deregulation of synaptic vesicle proteins in a transgenic mouse model of myotonic dystrophy". Trabalho apresentado em Gordon Research Conference, CAG Triplet Repeat Disorders., 2011.
  25. Hernández-Hernández O; Guiraud-Dogan C; Sicot G; Luilier S; Saenger S; Obriot H; Huguet A; et al. "Myotonic dystrophy CTG trinucleotide repeats affect RNA metabolism and synaptic vesicle proteins in the central nervous system of transgenic mice, showing disease-associated behavioural deficits". Trabalho apresentado em Myology 2011, 2011.
  26. Sicot G; Gerard C; Vaglio A; Fernandez-Gomez F; Bichara M; Huguet A; Nicole A; et al. "Establishment and characterisation of a brain cell culture system to investigate the functional consequences of DM1 CTG repeat expansions on calcium metabolism". Trabalho apresentado em Myology 2011, 2011.
  27. Gomes-Pereira M; Hernández-Hernández O; Guiraud-Dogan C; Huguet A; Lelandais L; Nicole A; Bassez G; Sergeant N; Gourdon G. "Region-specificity of RNA metabolism defects in the central nervous system of mice carrying large CTG repeat expansions.". Trabalho apresentado em 6th International Conference on Unstable Microsatellites and Human Disease, 2009.
  28. Gomes-Pereira M; Huguet A; Acquaire J; Nicole A; Foiry L; Munnich A. "RNA metabolism defects in muscle and brain of mice carrying large CTG repeat expansions: an animal model to explore the molecular pathogenesis of myotonic dystrophy.". Trabalho apresentado em Myology 2008, 2008.
  29. Gomes-Pereira M; Guiraud-Dogan C; Huguet A; Sergeant N; Gourdon G. "RNA-mediated brain dysfunction in DM1 transgenic mice". Trabalho apresentado em 5th International Conference on Unstable Microsatellites and Human Disease, 2006.
  30. Gomes-Pereira M; Guiraud-Dogan C; Huguet A; Acquaire J; Sergeant N; Gourdon G. "RNA-mediated neuronal dysfunction in DM1 transgenic mice.". Trabalho apresentado em Society for Neuscience Annual Meeting, 2006.
  31. Guiraud-Dogan C; Gomes-Pereira M; Huguet A; Sergeant N; Gourdon G. "Dystrophie myotonique de Steinert : premières explorations du cerveau des souris DM1 porteuses d’amplifications CTG". Trabalho apresentado em Assises de Génétique Humaine et Médicale, 2006.
  32. Guiraud-Dogan C; Gomes-Pereira M; Huguet A; Sergeant N; Gourdon G. "Investigating RNA-mediated neuronal dysfunction in DM1 transgenic mice". Trabalho apresentado em International Myotonic Dystrophy Consortium Meeting, 2005.
  33. Gomes-Pereira M; Monckton DG. "Trinucleotide repeat size mutation can occur independently of cell division". Trabalho apresentado em 4th International Conference on Unstable Microsatellites and Human Disease, 2004.
  34. Monckton DG; Mustafa S; McAbney JP; Gomes-Pereira M. "Chemically-induced modification of unstable DNA dynamics.". Trabalho apresentado em American Society of Human Genetics Annual Meeting, 2003.
  35. Bell JS; Gomes-Pereira M; McAbney JP; Monckton DG. "The effect of altering the ratio of MutSa to MutSß on trinucleotide repeat instability in vitro". Trabalho apresentado em International Myotonic Dystrophy Consortium Meeting, 2003.
  36. Bell JS; Gomes-Pereira M; McAbney JP; Monckton DG. "The effect of altering the ratio of MutSa to MutSß on trinucleotide repeat instability in vitro". Trabalho apresentado em UK Genetics Society Spring Meeting, 2003.
  37. Gomes-Pereira M; Mustafa S; McAbney JP; Monckton DG. "Chemically-induced modification of unstable DNA dynamics.". Trabalho apresentado em Annual Symposium of Fundamental Cancer Research: Maintenance of Genomic Integrity, 2002.
  38. Gomes-Pereira M; Mustafa S; McAbney JP; Monckton DG. "Chemically induced modification of DNA dynamics: towards chemogenetherapy in repeat expansion disorders.". Trabalho apresentado em Huntington Disease Foundation Biennal Meeting, 2002.
  39. Gomes-Pereira M; Fortune MT; Ingram L; McAbney JP; Monckton. "Pms2 as a genetic enhancer of expanded CAG•CTG repeat dynamics: implications for a mechanistic model of trinucleotide instability.". Trabalho apresentado em Huntington Disease Foundation Biennal Meeting, 2002.
  40. Gomes-Pereira M; Fortune MT; Monckton DG. "Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates.". Trabalho apresentado em American Society of Human Genetics Annual Meeting, 2001.
  41. Gomes-Pereira M; Ingram L; Fortune MT; Monckton DG. "Recreating the complex dynamics of simple trinucleotide repeats in mouse model systems". Trabalho apresentado em 3rd International Conference on Unstable Microsatellites and Human Disease, 2001.
  42. Gomes-Pereira M; Fortune MT; Monckton DG. "An in vitro system to assess triplet repeat dynamics.". Trabalho apresentado em Tenovus-Scotland Symposium on Gene Expression and Disease, 2000.
  43. Almeida MR; Gomes-Pereira M; Damas AM; Saraiva MJ. "Functional characterisation of synthetic transthyretin variants - contribution to the understanding of structure-function relationships.". Trabalho apresentado em International Symposium on Amyloidosis, 1998.
Pré-impressão
  1. Dincã, Diana; González-Barriga, Anchel; Sicot, Geraldine; Lallemant, Louison; Pillet, Laure-Elise; Cresto, Noémie; Braz, Sandra; et al. "Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes". 2021. http://dx.doi.org/10.21203/rs.3.rs-137333/v1.
    10.21203/rs.3.rs-137333/v1

Propriedade Intelectual

Patente
  1. Gomes-Pereira, M.; Cheron, G.; Gourdon, G.; Servais, L.. 2016. "Methods and pharmaceutical compositions for the treatment of the neuropathology of patients suffering from myotonic dystrophy type 1 (DM1)".
  2. Gomes-Pereira, M.; Monckton, D.G.. 2003. "Nucleotide repeat assay". Reino Unido.
Atividades

Apresentação oral de trabalho

Título da apresentação Nome do evento
Anfitrião (Local do evento)
2018/04 Investigating oligodendrocyte dysfunction in DM1 brain disease International Conference on Unstable Microsatellites and Human Disease
(Capri, Itália)
2017/09 CUG RNA toxicity in astrocytes is associated with adhesion and migration deficits and affects neuritogenesis International Myotonic Dystophy Consortium Meeting
(San Francisco, Estados Unidos)
2017/03 Investigating the mechanisms of brain disease in a mouse model of myotonic dystrophy. Euroopean Myotonic Dystrophy Research Meeting
Munnich University (Munnich, Alemanha)
2015/11/25 Upregulation of glutamate transporter corrects cerebellum dysfunction in a mouse model of myotonic dystrophy SFR Necker workshop 2015
Institut Necker (Paris, França)
2015/06 Cerebellum dysfunction in a mouse model of myotonic dystrophy is mediated by glutamate transport misregulation International Myotonic Dystrophy Consortium Meeting
(Paris, França)
2015/03 Trinucleotide DNA repeats, toxic RNA and brain dysfunction Invited Seminar
Instituto de Medecina Molecular (Lisbon, Portugal)
2015/02/27 Trinucleotide DNA repeats, toxic RNA and brain dysfunction Invited seminar
Instituto de Biologia Molecular e Celular (Porto, Portugal)
2015/02/20 Toxic RNA and myotonic dystrophy: from the dissection of disease mechanisms to the development of novel therapeutic strategies. Jacinto de Magalhaes Genetics Conference
Instituto de Genetica Medica Jacinto Magalhaes (Porto, Portugal)
2015/01 Neuroglial miscommnunication in DM1 brains through dysregulation of glutamate transport 8th Conference on Unstable Microsatellite and Human Disease
(Guanacaste, Costa Rica)
2014/12 Neuroglial miscommnunication in DM1 brains through dysregulation of glutamate transport Myotonic Dystrophy and the Brain: Brain Storming DM
University of Florida (Gainesville, Estados Unidos)
2014/11 Toxic RNA and brain dysfunction in myotonic dystrophy Toxic RNA and brain dysfunction in myotonic dystrophy
Institut Imagine for Genetic Diseases (Paris, França)
2014/03 Brain dysfunction in myotonic dystrophy: from toxic RNA to synaptic dysregulation Invited seminar
Institute for Stem cell Therapy and Exploration of Monogenic diseases (I-Stem) (Evry, França)
2014/02 Disease models and neurochemistry: neuroglial miscomunnication in DM1 through misregulation of glutamate transport DM-CNS 5th workshop
Marigold Foundation (Milan, Itália)
2013/11 Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behavior Invited seminar
Hôpital Bichat Claude-Bernard (Paris, França)
2013/06 Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behavior Annual Meeting of the European Society of Human Genetics
European Society of Human Genetics (Paris, França)
2013/05 Dissection of CNS dysfunction in a mouse model of DM1. DM-CNS 4th workshop
Marigold Foundation (Ferrere, Itália)
2012/06 Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behavior 7th International Conference on Unstable Microsatellites and Human Disease
(Strasbourg, França)
2012/05 Disease models of myotonic dystrophy DM-CNS 3rd workshop
Marigold Foundation (Toronto, Canadá)
2011/12 Myotonic dystrophy mouse models International Myotonic Dystrophy Consortium Meeting
(Temper, Estados Unidos)
2011/02 Myotonic dystrophy CTG trinucleotide repeats affect RNA metabolism and synaptic vesicle proteins in the central nervous system of transgenic mice, showing disease-associated behavioural deficits. International Symposium on cerebral involvement in myotonic dystrophy type 1 and 2
AFM (Paris, França)
2010/07 Animal models of myotonic dystrophy INISA Anniversary Meeting 2010
University of Costa Rica (San Jose, Costa Rica)
2010/01 Dissection of the mechanisms of CNS involvement in a transgenic mouse model of DM1. International Symposium on cerebral involvement in myotonic dystrophy type 1 and 2
AFM (Paris, França)
2009/09 Mouse models of DM1: Dissection of molecular pathogenesis and assessment of potential therapies Marigold international workshop on DM animal models
Marigold Foundation (Wurzburg, Alemanha)
2009/09 Investigating cellular and molecular abnormalities in the central nervous system of mice carrying large CTG repeat expansions. International Myotonic Dystrophy Consortium Meeting
(Wurzburg, Alemanha)
2009/01 Region-specificity of RNA metabolism defects in the central nervous system of mice carrying large CTG repeat expansions. 6th International Conference on Unstable Microsatellites and Human Disease
(Guanacaste, Costa Rica)
2007/09 CUG length-dependent, brain region- and muscle type-specific splicing abnormalities in DM1 transgenic mice International Myotonic Dystrophy Consortium Meeting
(Milan, Itália)
2007/06 Phenotype of mice with very long CUG repeats First French-Japanese Myotonic Dystrophy Workshop
Universite de Lille (Lille, França)
2007/06 Trinucleotide repeat “big jumps” in DM1 transgenic mice: large CTG expansions, splicing abnormalities and growth retardation The annual meeting of the European Society of Human Genetics
European Society of Human Genetics (Nice, França)
2006/11 RNA-mediated brain dysfunction in DM1 transgenic mice 5th International Conference on Unstable Microsatellites and Human Disease
(Granada, Espanha)
2005/11 DNA trinucleotide repeats and human disease: what goes up, must come down Annual Meeting of the Portuguese Society of Human Genetics
Sociedade Portuguesa de Genetica Humana (Cascais, Portugal)
2004/09 Trinucleotides, DNA replication and repair: the usual suspects Invited seminar
Instituto de Genetica Medica Jacinto Magalhaes (Porto, Portugal)
2003/12 DNA trinucleotide repeats and human disease: what goes up must come down Invited Seminar
Instituto de Medicina Molecular (Lisbon)
2003/12 DNA repeats, replication and repair: the good, the bad and the ugly Invited Seminar
Instituto Gulbenkian de Ciencia (Oeiras, Portugal)
2003/11 Pms2 as a genetic enhancer of expanded CAG•CTG repeat dynamics: implications for a mechanistic model of trinucleotide instability. Annual Meeting of the Society for Neuroscience
Society for Neuroscience (New Orleans, Estados Unidos)
2003/06 DNA trinucleotides repeats, replication and repair: the usual suspects Invited Seminar
Necker Hospital for Sick Children (Paris, França)
2003/04 DNA repeats, replication and repair: the usual suspects Invited Seminar
Institut de Genetique Biologie Moleculaire et Cellulaire (IGBMC) (Strasbourg, França)
2003/04 Chemically-induced modification of DNA dynamics: towards chemogenetherapy in repeat expansion disorders. International Myotonic Dystrophy Consortium Meeting
(Glasgow, Reino Unido)
2003/03 Chemically-induced modification of DNA dynamics: towards chemogenetherapy in repeat expansion disorders UK Genetics Society Spring Meeting
UK Genetics Society (Warwick, Reino Unido)
2001 Recreating the complex dynamics of simple trinucleotide repeats in mouse tissue culture systems Hunter-Lord Brain-Storming Symposium for Myotonic Dystrophies
American Society for Human Genetics (Philadelphia, Estados Unidos)

Orientação

Título / Tema
Papel desempenhado 		Curso (Tipo)
Instituição / Organização
2015/10/01 - Atual Oligodendrocyte dysfunction in toxic RNA diseases
Orientador de Sandra O. Braz
 Neurobiology (Doutoramento)
Université Paris Descartes, França
2018 - 2019 Generation of hiPSC-derived models of brain disease for myotonic dystrophy type 1
Orientador
 Biology, Health and Ecology (Mestrado)
École Pratique des Hautes Études, França
2018 - 2018 Molecular and cell abnormalities in the oligodendrocytes of a mouse model of myotonic dystrophy type 1
Orientador de Raphael Blain
 Cell Biology, Physiology and Pathology (Mestrado)
Université Paris Descartes, França
2017 - 2018 Neuronal axonal transport in a mouse model of myotonic dystrophy type 1
Orientador de Raphael Cohen
 Biology, Health and Ecology (Mestrado)
École Pratique des Hautes Études, França
2013/10/01 - 2017/10/31 Mechanisms of brain dysfunction in myotonic dystrophy type 1: Impact of the CTG expansion on neuronal and astroglial physiology
Orientador de Diana Dinca
 Neurobiology (Doutoramento)
Université Paris Descartes, França
2015 - 2016 Abnormal axonal transport and neuronal dysfunction in myotonic dystrophy type 1
Orientador de Louison Lallemant
 Biology, Health and Ecology (Mestrado)
École Pratique des Hautes Études, França
2015 - 2015 Molecular mechanisms of myotonic dystrophy neuropathology
Orientador de Chahrazad Nedjar
 Genetics (Mestrado)
Université Paris Descartes, França
2014 - 2015 Molecular mechanisms of neurological dysfunction in myotonic dystrophy type 1
Orientador de Louison Lallemant
 Certificate in Biomedical Research (Curso de aperfeiçoamento / especialização)
Ecole Supérieure des Techniques de Biologie Appliquée, França
2014 - 2015 Neurological dysfunction in myotonic dystrophy type 1
Orientador de Lisa Gradeck
 Biology (Curso de aperfeiçoamento / especialização)
Université Clermont Auvergne, França
2014 - 2014 Role of synapsin-1 hyperphosphorylation in myotonic dystrophy type 1 brain dysfunction
Orientador de Shanon Tan
 Genetics (Mestrado)
Université Paris Descartes, França
2014 - 2014 Mechanisms of central nervous system dysfunction in myotonic dystrophy
Orientador de Geoffray Quenioux
 Genetics (Mestrado)
Université Paris Descartes, França
2013 - 2014 Molecular pathogenesis of myotonic dystrophy type 1 in the central nervous system
Orientador
 Certificate in Biomedical Research (Curso de aperfeiçoamento / especialização)
Ecole Supérieure des Techniques de Biologie Appliquée, França
2012/10/01 - 2013/09/30 Synaptic protein dysregulation in myotonic dystrophy type 1: mechanisms and consequences
Orientador de Diana Dinca
 Genetics, cell biology and development (Mestrado)
Université Paris-Sud, França
2009/09/01 - 2013/09/30 Consequences pathologiques des expansions CTG sur le système nerveux central d’un modele murin de la dystrophie myotonique de Steinert : approches moleculaires, proteomiques et cellulaires
Orientador de Geraldine Sicot
 Molecular Genetics (Doutoramento)
Université Paris Descartes, França
2010 - 2011 Calcium metabolism deregulation in a brain cell cultue model system of myotonic dystrophy type 1
Orientador de Annette Vaglio Garro
 Biology (Mestrado)
Tecnológico de Costa Rica, Costa Rica
2010 - 2010 Pathophysiological consequences of CTG expansions on candidate proteins involved in calcium metabolism in the central nervous system of a mouse model of myotonic dystrophy type 1
Orientador de Come Gerard
 Biomedical Engineering (Mestrado)
Université Claude Bernard Lyon 1, França
2007 - 2010 Molecular mechanisms of neuronal dysfunction in myotonic dystrophy
Coorientador de Prisiliana Velázquez
 Molecular Genetics (Doutoramento)
Université Paris Descartes, França
2008 - 2009 Pathological consequences of CTG expansions in the central nervous system of a transgenic mouse model of DM1: molecular, proteomics and cellular approaches
Orientador
 Genetics (Mestrado)
Université Paris Diderot, França
2007 - 2008 Molecular and pathogenic consequences of CTG expansions in the central nervous system of a transgenic mouse model of myotonic dystrophy type 1
Orientador
 Genetics (Mestrado)
Université Paris Descartes, França
2006 - 2007 Myotonic dystrophy type 1: somatic instability of CTG repeats in the central nervous system and generation of a new disease mouse model
Orientador
 Certificate in Biomedical Research (Curso de aperfeiçoamento / especialização)
Ecole Supérieure des Techniques de Biologie Appliquée, França
2004 - 2007 Tau pathology in myotonic dystrophy
Coorientador de Oscar Hernandez-Hernandez
 Neurobiology (Doutoramento)
Université Paris Descartes, França

Organização de evento

Nome do evento
Tipo de evento (Tipo de participação) 		Instituição / Organização
2014/06/01 - 2015/06/30 International Myotonic Dystrophy Consortium meeting 2015 (2015/06/08 - 2015/06/12)
Conferência (Membro da Comissão Organizadora)

Participação em evento

Descrição da atividade
Tipo de evento 		Nome do evento
Instituição / Organização
2010 - Atual Discussion group including research scientists, medical doctors, patients and families. Review of latest research progress, discussion of priorities and establishment of guidelines for future research plans and therapeutic development.
Oficina (workshop)
 Groupe de Reflexion de d’Action Steinert
AFM, França
2006 - Atual Meetings between patients, families, research scientists and medical doctors. Science vulgarisation. Exchange of the latest progress in research and therapeutic developments.
Encontro
 AFM-Telethon Journée des Familles
AFM, França
2017/06 - 2017/06 Meeting between patients, families, research scientists and medical doctors. Vulgarisation of latest research progress and therapeutic developments.
Encontro
 Myotonic Dystrophy Support Group Annual Conference
Myotonic Dystrophy Support Group UK, Reino Unido

Júri de grau académico

Tema
Tipo de participação 		Nome do candidato (Tipo de grau)
Instituição / Organização
2019/02/21 Non-coding Repeat Insertion and RNA-mediated Neurodegeneration
Arguente principal
 Joana Loureiro (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2018/10/02 The study of the consequences of SERCA1’s missplicing on muscle function in Myotonic Dystrophy type 1
Arguente principal
 Damily De Dea Diniz (Doutoramento)
2017/10/23 CAG repeat instability in Huntington's disease: insights from HD patients and mouse models
Arguente principal
 Joao Neto (Doutoramento)
Universidade do Porto Instituto de Ciências Biomédicas Abel Salazar, Portugal
2017/04/17 Contraction de repetitions de trinucleotides par induction ciblee d’une cassure double brin
Vogal
 Valentine Mosbach (Doutoramento)
Institut Pasteur, França
2014/05/06 Role de la dysfonction mitochondriale dans deux maladies neurodegeneratives, la Maladie de Huntington et la Maladie de Parkinson
Vogal
 Maria Damiano (Doutoramento)
Sorbonne Université, França
2013/12/18 Utilisation de cellules souches pluripotentes humaines pour le de´veloppement de criblages phe´notypiques dans le cadre de la Dystrophie Myotonique de type 1 et l’Amyotrophie spinale infantile
Vogal
 Yves Maury (Doutoramento)
Université d'Evry-Val-d'Essonne, França
2012 Rab21 interacting proteins identification and roles in Autophagy
Arguente principal
 Sonya Nassari (Mestrado)
Université Paris Diderot, França
2009 Effet du Beezafibrate sur l’ADN mitochondrial d’une lignee de fibroblastes humains porteurs d’une mutation mitochondriale.
Arguente principal
 Marine Lepoutre (Mestrado)
Université Paris Diderot, França
2009 Caracte´risation fonctionnelle d’un e´le´ment re´gulateur de Krox20 lors de la segmentation du rhombence´phale des Verte´bre´s
Arguente principal
 Johan Le Men (Mestrado)
Université Paris Diderot, França
2009 Duplication 2q31 responsable d’un syndrome "syndactylie-nystagmus" : etude genetique et recherche de genes candidats
Arguente principal
 Jamal Ghoumid (Mestrado)
Université Paris Diderot, França
2009 MBNL1 analysis: a protein associated to the CUG expansions in myotonic dystrophy type 1.
Arguente principal
 Camille Lemercier (Mestrado)
École Pratique des Hautes Études, França

Arbitragem científica em conferência

Nome da conferência Local da conferência
2015 - 2016 2017 International Myotonic Dystrophy Consortium (IDMC11) San Francisco
2014 - 2015 2015 International Myotonic Dystrophy Consortium (IDMC10) Paris

Arbitragem científica em revista

Nome da revista (ISSN) Editora
2013 - 2017 Advances in Medicine

Comissão de avaliação

Descrição da atividade
Tipo de assessoria 		Instituição / Organização Entidade financiadora
2017 - 2018 Internal committee for the evaluation of research assistants, technicians and administrative staff
Membro
 Institut hospitalo-universitaire Imagine Institut des Maladies Génétiques, França
2016 - 2016 Selection committee of the Imagine International PhD program
Membro
 Institut hospitalo-universitaire Imagine Institut des Maladies Génétiques, França

Consultoria / Parecer

Descrição da atividade Instituição / Organização
2016 - Atual Vice Chair (Life Sciences Panel) of Horizon 2020 Marie Sklodowska-Curie Actions European Commission, Bélgica
2008 - Atual Reviewer for many specialised journals (e.g. PLoS Genetics, PLoS One, Human Molecular Genetics, Neuromuscular Disorders, Nature Communications, …) and funding agencies (e.g. Association Française contre les Myopathies, France; The National Ataxia Foundation, USA; Fondation Maladies Rares, France; Association du Syndrome de Wolfram, France; The Wellcome Trust, UK; The Israeli Science Foundation, Israel; The Eurostars European programme; Prinses Beatrix, The Netherlands).
2008 - 2018 Radioprotection officer Institut hospitalo-universitaire Imagine Institut des Maladies Génétiques, França
2015 - 2015 External evaluator/expert of the Horizon 2020 Marie Sklodowska-Curie Actions European Commission, Bélgica
2007 - 2008 External evaluator/expert for the Frame-work Programme 7 (FP7), Life Sciences, Human Health European Commission, Bélgica

Curso / Disciplina lecionado

Disciplina Curso (Tipo) Instituição / Organização
2019 - Atual Masterclass on Human Microsatellite and Human Disease. International Master’s Programme in Molecular Mechanisms of Disease (Master) Radboud Universiteit Radboud Institute for Molecular Life Sciences, Países Baixos
2016 - Atual Genetic diseases caused by unstable DNA microsatellites Molecular pathophysiology and therapeutics of genetic diseases (Master) Université Paris Descartes, França
2012 - Atual Trinucleotide repeat expansion disorders Medical Genetics (Master) Université Paris-Sud, França
2009 - Atual Human Diseases Associated with Expanded Trinucleotide Repeats Masters by Research on Life and Health Sciences (Master) Université Paris Descartes, França
2009 - Atual Current advances in myotonic dystrophy research Training in Neuromuscular Diseases to Health Carera AFM, França
2011 - 2018 Trinucleotide repeat expansions, human disease and RNA toxicity Graduate Program in Areas of Basic and Applied Biology (Curso de doutoramento (conclusão de unidades curriculares)) Universidade do Porto, Portugal
2008 - 2015 Trinucleotide repeat expansion disorders Human Genetics (Master) Université Paris-Sud Faculté des Sciences d'Orsay, França
2000/10 - 2001/04 Human Genetics Nursing (Bachelor) University of Glasgow, Reino Unido
1999/10 - 2000/04 Molecular Methods Pharmacology and Physiology (Bachelor) University of Glasgow, Reino Unido

Membro de comissão

Descrição da atividade
Tipo de participação 		Instituição / Organização
2012 - Atual International working group on Outcome Measures in Myotonic Dystrophy Type 1
Membro
2008 - 2018 The Marigold Foundation working group on CNS dysfunction in myotonic dystrophy
Membro
 Marigold Foundation, Canadá

Tutoria

Tópico Nome do aluno
2018 - Atual Supervision of post-doctoral research scientist. Anchel Gonzalez-Barriga
2007 - 2009 Supervision of post-doctoral research scientist. Oscar Hernandez-Hernandez
2007 - 2009 Mentoring and management of a Research Assistant Julien Acquaire
Distinções

Prémio

2005 Scientific Article Award
Centro de Genética Médica Doutor Jacinto Magalhães, Portugal
2003 Young Geneticist of the Year
Genetics Society, Reino Unido
1997 Fundacao Eng. Antonio de Almeida Award
Universidade do Porto Faculdade de Ciências, Portugal
1997 ICBAS Award in Biochemistry
Universidade do Porto Faculdade de Ciências, Portugal
1995 Prof. Doutor Fernando Serra~o Award
Universidade do Porto Faculdade de Ciências, Portugal