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Marta Simões is a superior laboratory technician, since March 2001, at Laboratory of Mitochondrial BioMedicine and Theranostics (LBioMiT), Center for Neurosciences and Cell Biology, University of Coimbra, which is recognized as an entity certified since 2011 by NP EN ISO 9001: 2008, with registration number 2011 / CEP.3971 (entity certifying APCER). She performs biochemical and functional genomic analyzes, integrated int the diagnostic tests of mitochondrial cytopathies. Simões M. integrates the Group studies of Coenzyme Q10 deficits since June 2010. She has a degree in Biochemistry and a PostGraduate in Biomedicine, both at the University of Coimbra (UC). She is a Ph.D. student of the Doctoral Program in Biosciences, at the Faculty of Sciences and Technology, UC. Her Ph.D. project will be focused in mitochondrial cytopathies' cell metabolism adaptations and stress responses involvement. She is co-author of 18 publications in peer-reviewed journals and 37 papers in conference proceedings, and, 140 scientific communications, 97 of which are posters and 43 are oral presentations. In the last few years, she has also participated in 2 research projects approved by the Foundation for Science and Technology and other 2 projects.
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Identification

Personal identification

Full name
Marta Simões

Citation names

  • Simões, Marta

Author identifiers

Ciência ID
BC10-1F0F-C889
ORCID iD
0000-0003-3998-1611

Email addresses

  • msm.simoes@gmail.com (Professional)

Addresses

  • Center for Neurosciences and Cell Biology of Coimbra. Faculty of Medicine University of Coimbra, Institute of Biochemistry Pólo III, Sub. I-2nd Floor, 3004-548, Coimbra, Coimbra, Portugal (Professional)

Knowledge fields

  • Medical and Health Sciences - Health Sciences

Languages

Language Speaking Reading Writing Listening Peer-review
English Intermediate (B1) Intermediate (B1) Intermediate (B1) Intermediate (B1)
Education
Degree Classification
2017 - 2022
Ongoing
 Doctoral Program on Biosciences (Curso de doutoramento (conclusão de unidades curriculares))
Major in Specialization in Cell and Molecular Biology
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
2005
Concluded
 Biomedicine PostGraduate (Pós-Graduação)
Universidade de Coimbra Faculdade de Medicina, Portugal
 16
2000
Concluded
 Biochemistry (Licenciatura)
Universidade de Coimbra Faculdade de Ciencias e Tecnologia, Portugal
"Actividade da Cadeia Respiratória Mitocondrial e caracterização metabólica de células da retina de embrião de pinto ao longo do desenvolvimento e sob o efeito do óxido nítrico" (THESIS/DISSERTATION)
 13
1993
Concluded
 Nível secundário de escolaridade (Ensino secundário)
Major in Ciências e Tecnologia
Escola Secundária de Santa Comba Dão, Portugal
 18
Affiliation

Others

Category
Host institution 		Employer
2001/03/01 - Current Superior Laboratory Technician University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
University of Coimbra, Faculty of Medicine, Portugal
2000/10/01 - 2001/02/28 Volunteering worker - Mitochondrial Respiratory Chain Disorders CNC.IBILI, Portugal
Universidade de Coimbra Faculdade de Medicina, Portugal
Projects

Contract

Designation Funders
2020 - Current From obesity to adiposopathy: role of mitochondria
.
Researcher
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
 Association for the Study and Investigation in Geriatry and Clinical Nutrition
2022/03/20 - 2023/03/19 Mit.OnOff : Malfunctions of the energy factory / Avarias na fábrica de energia
fbr_oc2_01_universidade de coimbra
Other
Ongoing
2018/06/01 - 2022/05/31 Providing free of charge complete genetic tests to all Portuguese patients with a clinical and instrumental diagnosis of Optic Nerve Atrophy
.
Researcher
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
 Santhera Pharmaceuticals Schweiz AG
Ongoing
2019 - 2020 Analysis of biomarkers, bioenergy and psychological assessment of well-being in the intervention of Clown Doctors in a hospital environment (BIORISO) – 2019-2020
.
Researcher
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
Ongoing
2013/04/01 - 2015/03/31 Translational Bigenomics Investigation in Leber´s Hereditary Optic Neuropathy: Genotype Phenotype Correlation
PTDC/DTP-EPI/0929/2012
Researcher
CNC, Faculdade de Medicina UC, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2012/01/01 - 2014/12/31 Neuropsychological Assessment and Dual Genome Investigation in Frontotemporal Dementia
PTDC/SAU-EPI/121811/2010
Researcher
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
 Fundação para a Ciência e a Tecnologia
Concluded
2009/02/01 - 2010/01/31 Avaliação da concentração plasmática de ATP como potencial biomarcador nas citopatias mitocondriais/Evaluation of plasma concentration of ATP and a potential biomarker in mitochondrial citopathies
Projecto nº 16/09
Researcher
Projecto GAPI
Concluded

Other

Designation Funders
2015/04/01 - 2016/03/31 Unveiling intracellular organelle interaction with mitochondria in Leber Hereditary Optic Neuropathy: functional genomics approach.
.
Researcher
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
Concluded
Outputs

Publications

Book
  1. Grazina, Manuela. As Avarias na Fábrica de Energia/Malfunctions of the energy factory. Portugal: Self-Published.. 2023.
    Published • Assistant staff
Conference abstract
  1. Martins, Sara; Santos, Maria João; Simões, Marta; Ferreira, Joana; Araújo, Maria; Resendes, Gil; Meira, Dália; Grazina, Manuela. Corresponding author: Grazina, Manuela. "P16.013.A 28 years of genetic screening for Leber's Hereditary Optic Neuropathy at LBioMiT.". Paper presented in 56th European Society of Human Genetics (ESHG) Conference (ESHG 2023), Glasgow, 2024.
    Published
  2. Grazina, Manuela; Martins, Sara; Santos, Maria João; Simões, Marta; Caetano, Carolina; Neves, Beatriz; Varela Amaral, Sara; Bindoff, Laurence. Corresponding author: Grazina, Manuela. "Mit.OnOff: A Science Communication Project for Public Awareness about Mitochondrial Cytopathies.". Paper presented in 19th International Symposium of the Portuguese Society for Metabolic Disorders, Figueira da Foz, 2023, Figueira da Foz, 2023.
    Published
  3. Santos, Maria João; Simões, Marta; Martins, Sara; Durães, João; Ferreira, Sara; Santos, Constança; Diogo, Luísa; do Carmo Macário, Maria; Grazina, Manuela. Corresponding author: Grazina, Manuela. "57ASM - 177 | Mitochondrial genome deletions screening: Does next-generation sequencing solve it all?". Paper presented in 57TH ANNUAL SCIENTIFIC MEETING ESCI, Prague, 2023, Prague, 2023.
    Published
  4. Simões, Marta; Santos, Maria João; Martins, Sara; Gomes, Célia; Durães, João; Oliveira, João Paulo; Ferreira, José Carlos; Grazina, Manuela. Corresponding author: Grazina, Manuela. "57ASM - 179 | AddFun: Adding functional genomics to genetics in mitochondrial oxidative phosphorylation diseases.". Paper presented in 57TH ANNUAL SCIENTIFIC MEETING ESCI, Prague, 2023, Prague, 2023.
    Published
  5. Simões, Marta; Santos, Maria João; Martins, Sara; Macário, Maria do Carmo; Durães, João; Diogo, Luísa; Ferreira, João Paulo; Grazina, Manuela. Corresponding author: Grazina, Manuela. ""Challenges in Genetic Diagnosis of Mitochondrial Diseases: What Can Functional Genomics' Studies Do? Published: Endocr Metab Immune Disord Drug Targets . 2023 Dec 18.". Paper presented in 19th International Symposium of SPDM, Figueira da Foz, 2023.
    Published • 10.2174/0118715303273290231211062420
  6. Martins, Sara; Santos, Maria João; Simões, Marta; Jacinto, Sandra; Halpern, Cristina Martins; Dupont, Juliette; Diogo, Luisa; Grazina, Manuela. Corresponding author: Grazina, Manuela. "Diversities in Leigh Syndrome Associated with MT-ATP6 Gene Variants. Endocr Metab Immune Disord Drug Targets . 2023 Oct 4.". Paper presented in 19th International Symposium of SPDM, Figueira da Foz, 2023.
  7. Martins, Sara; Santos, Maria João; Simões, Marta; Teixeira, Márcia; Diogo, Luisa; do Carmo Macário, Maria; PT LHON Taskforce; Grazina, Manuela. Corresponding author: Grazina, Manuela. "Leber's Hereditary Optic Neuropathy Pathogenic Sequence Variants At LBioMiT: 27 Years Of Screening And GenEye24.". Paper presented in 65th Portuguese Congress of Ophthalmology (65 Congresso Portugues de Oftalmologia), Coimbra, 2022, Coimbra, 2022.
    Published
  8. Gomes, Célia Alcobia; Simões, Marta; Santos, Maria João; do Carmo Macário, Maria; Diogo, Luisa; Grazina, Manuela. Corresponding author: Grazina, Manuela. "Evaluation of endoplasmic reticulum (ER) stress-mediated apoptosis in LHON patient primary cells.". Paper presented in 18th International Symposium of the Portuguese Society for Metabolic Disorders, Peniche, 2022., Peniche, 2022.
    Published
  9. Grazina, Manuela; Simões, Marta; Bacalhau, Mafalda; Ribeiro, Carolina; Santos, Maria João; do Carmo Macário, Maria; Durães, João; et al. Corresponding author: Grazina, Manuela. "Functional genomics' studies are mandatory for clarifying pathogenicity of novel genetic variants detected by NGS in OXPHOS disorders.". Paper presented in 52nd European Society of Human Genetics (ESHG) Conference, Gothenburg, 2019, Gothenburg, 2019.
  10. Ribeiro, Carolina; Guiomar, Pedro; Pratas, João; Bacalhau, Mafalda; Vaz, Mónica; Simões, Marta; Mendes, Cândida; et al. Corresponding author: Grazina, Manuela. "Leber hereditary optic neuropathy plus - more than just a mitochondrial DNA mutation. CO12. Sinapse 2015". Paper presented in Fórum de Neurologia, 2015, Aveiro, 2015.
    Published
  11. Ribeiro, Carolina; Pratas, João; Santos, Maria João; Simões, Marta; Mendes, Cândida; do Carmo Macário, Maria; Diogo, Luísa; et al. Corresponding author: Grazina, Manuela M.. "Dual genome investigation in Leber Hereditary Optic Neuropathy.". Paper presented in European Journal of Human Genetics, 2015, 2015.
    Published
Conference poster
  1. Martins, Sara; Santos, Maria João; Simões, Marta; Gomes, Célia Alcobia; Varela Amaral, Sara; Grazina, Manuela. Corresponding author: Grazina, Manuela. "19 years of rare SinEnergies: Science, Communication, Awareness, Fundraising.". Paper presented in MAD Meeting 2024, 2024.
  2. Martins, Sara; Santos, Maria João; Simões, Marta; Durães, João; Ferreira, Sara; Santos, Constança; Diogo, Luísa; Macário, Maria do Carmo; Grazina, Manuela. "Mitochondrial genome deletions screening - does next-generation sequencing solve it all?". Paper presented in ESCI 2023 Annual Scientific Meeting, 2023.
  3. Simões, Marta; Santos, Maria João; Gomes, Célia Alcobia; Durães, João; Oliveira, João Paulo; Ferreira, José Carlos; Macário, Maria do Carmo; Diogo, Luisa; Grazina, Manuela. "AddFun: adding functional genomics to genetics in mitochondrial oxidative phosphorylation diseases". Paper presented in ESCI 2023 Annual Scientific Meeting, 2023.
  4. Martins, Sara; Santos, Maria João; Simões, Marta; Jacinto, Sandra; Halpern, Cristina Martins; Dupont, Juliette; Diogo, Luísa; Grazina, Manuela. "Diversities in Leigh syndrome associated to MT-ATP6 gene variants". Paper presented in 19º Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas, 2023.
  5. Simões, Marta; Santos, Maria João; Martins, Sara; Macário, Maria Carmo; Durães, João; Diogo, Luisa; Oliveira, João Paulo; Ferreira, J Carlos; Grazina, Manuela. "Challenges in genetic diagnosis of mitochondrial diseases: what can functional genomics' studies do?". Paper presented in 19th International SPDM Symposium, 2023.
  6. Martins, Sara; Santos, Maria João; Simões, Marta; Tavares Ferreira, Joana; Araújo, Maria; Resendes, Gil; Meira, Dália; Grazina, Manuela. "28 years of genetic screening for Leber’s Hereditary Optic Neuropathy at LBioMiT.". Paper presented in 56th European Society of Human Genetics (ESHG) Conference (ESHG 2023), 2023.
  7. Martins, Sara; Santos, Maria João; Simões, Mart; António Friande Pereira; Cristina Almeida; Dália Meira; Gil Resendes; Grazina, Manuela. Corresponding author: Grazina, Manuela. "The Road So Far and beyond: 28 years of Leber’s Hereditary Optic Neuropathy at LBioMiT - past, present and future.". Paper presented in MitoPorto 2023, 2023.
  8. Grazina, Manuela; Martins, Sara; Santos, Maria João; Simões, Marta; Caetano, Carolina; Neves, Beatriz; Varela Amaral, Sara; Bindoff, Laurence A.. "Mit.OnOff: A Science Communication Project for Public Awareness about Mitochondrial Cytopathies". Paper presented in 19th International Symposium of SPDM, 2023.
  9. Costa, Vanessa; Simões, Marta; Curto, João; Balhau, João; Grazina, Manuela. "Mitochondrial respiratory chain deficit in drug addicts.". Paper presented in CIBB Meeting University of Coimbra (Polo III , Unidade Central), 2019.
  10. Simões, Marta; Bacalhau, M.; Fonseca, M.I.; Ribeiro, C.; Santos, M.J.; do Carmo Macário, M.; Diogo, L.; Grazina, M.. "Assembly of OXPHOS system in patients with respiratory chain disease.". Paper presented in 15th International SPDM Symposium, 2019.
  11. Teixeira, M.; Santos, M.J.; Ribeiro, C.; Bacalhau, Mafalda; Simões, Marta; Fonseca, P.; Durães, J.; et al. "Mitochondrial protein import genes involvement in Leber's hereditary optic neuropathy (LHON).". Paper presented in 15th International SPDM Symposium, 2019.
  12. Grazina, M.; Simões, Marta; Bacalhau, Mafalda; Ribeiro, C.; Santos, M.J.; Macário, M.C.; Durães, J.; et al. "Functional genomics' studies are mandatory for clarifying pathogenicity of novel genetic variants detected by NGS in OXPHOS disorders.". Paper presented in European Human Genetics Conference, 2018.
  13. Bacalhau, Mafalda; Simões, Marta; Pratas, J.; Diogo, L.; Garcia, P.; Vaz, M.; Santos, M.J.; et al. "Mitochondrial dysfunction in a lysosomal storage disorder: a case of spinocerebellar ataxia.". Paper presented in International Symposium MitoPorto - advances in mitochondrial research, 2017.
  14. Fonseca, M.I.; Bacalhau, Mafalda; Ribeiro, C.; Santos, M.J.; Macário, M.C.; Fonseca, P.; Diogo, L.; Simões, Marta; Grazina, M.. "Investigation of OXPHOS complexes' assembly in four LHON patients- Heterogeneity of genetic background". Paper presented in 20th Anual Reunion of Portuguese Society of Human Genetics, 2016.
  15. Ramos, A.; Ribeiro, C.; Simões, Marta; Santos, M.J.; Grazina, M.. "The chalenges of bioinformatics for ngs genetic data analysis and sanger sequencing remaining: laboratory implications and clinical significance of mutations.". Paper presented in 12th International Symposium SPDM, 2016.
  16. Simões, Marta; Bacalhau, Mafalda; Macário, M.C.; Lopes, C.; Rego, A.C.; Grazina, M.. "STILL MITOCHONDRIAL DYSFUNCTION IN LEBER'S HEREDITARY OPTIC NEUROPATHY PATHOGENESIS". Paper presented in 12th International Symposium SPDM, 2016.
  17. Gomes, C.; Simões, Marta; Ribeiro, C.; Macário, M.C.; Mendes, C.; Pratas, J.; Santos, M.J.; Silva, E.; Diogo, L.. "Investigation of TFAM gene involvement in LHON-plus: the phantom deletion story". Paper presented in 12th International Symposium SPDM, 2016.
  18. Bacalhau, Mafalda; Simões, Marta; Pratas, J.; Santos, M.J.; Vaz, M.; Zuzarte, M.; Lopes, C.; et al. "FUNCTIONAL GENOMICS ANALYSIS TO GATHERING EVIDENCE FOR m.7486G>A MUTATION PATHOGENICITY". Paper presented in XIII CNC Annual Meeting, 2015.
  19. Mendes, C.; Simões, Marta; Vaz, M.; Areias, G.; Grazina, M.. "Mitochondrial energy activity failure in drug addiction - preliminary study". Paper presented in Lisbon Addictions 2015: First European conference on addictive behaviours and dependencies, 2015.
  20. Costa, B.P.; Martins, P.; Veríssimo, C.; Simões, Marta; Tomé, M.; Marques, G.; Grazina, M.; Pimentel, J.; Sousa, F.C.. "Plasma glutamine concentration - a predictive factor of actuarial survival in critical surgical patients?". Paper presented in 37th ESPEN Congress, 2015.
  21. Costa, B.; Martins, P.; Veríssimo, C.; Simões, Marta; Tomé, M.; Marques, G.; Grazina, M.; Pimentel, J.; Sousa, F.C.. "Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patient?". Paper presented in 37th ESPEN Congress, 2015.
  22. Ribeiro, C.; Pratas, J.; Santos, M.J.; Simões, Marta; Mendes, C.; do Carmo Macário, M.; Diogo, L.; et al. "Dual genome investigation in Leber's Hereditary Optic Neuropathy". Paper presented in European Society of Human Genetics 11th Meeting 2015, 2015.
  23. Ribeiro, C.; Pratas, J.; Santos, M.J.; Simões, Marta; Mendes, C.; Macário, M.C.; Diogo, L.; et al. "Leber Hereditary Optic Neuropathy: biochemical and genetic investigation in 10 portuguese patients". Paper presented in 11th International Symposium SPDM, 2015.
  24. Barreto, P.; Pratas, J.; Mendes, C.; Santos, M.J.; Simões, Marta; Martins, C.; Duarte, J.; et al. "Hearing loss: mitochondrial genetics etiology and implications in aminoglycosids use.". Paper presented in 4ª EDIÇÃO DE IN4MED - CONGRESSO MÉDICO-CIENTÍFICO ORGANIZADO PELO NÚCLEO DE ESTUDANTES DE MEDICINA DA ASSOCIAÇÃO ACADÉMICA DE COIMBRA (NEM/AAC) - "Viver (d)a Medicina", 2015.
  25. Gomes, C.; Ribeiro, C.; Simões, Marta; Mendes, C.; Pratas, J.; Santos, M.J.; Silva, E.; et al. "Genetic investigation of mitochondrial transcription factor a (TFAM) in an unusual Leber's hereditary optic neuropathy (LHON-plus case).". Paper presented in XII CNC Annual Meeting, 2014.
  26. Bacalhau, Mafalda; Pratas, J.; Santos, M.J.; Vaz, M.; Simões, Marta; Mendes, C.; Rego, A.C.; et al. "Establishing the pathogenicity of mitochondrial DNA mutations: a cell and molecular biology approach.". Paper presented in XII CNC Annual Meeting, 2014.
  27. Gaspar, R.; Santana, I.; Abrantes, J.; Mendes, C.; Monteiro, R.; Santos, M.J.; Duro, D.; Simões, Marta; Luís, D.. "Complex V investigation in frontotemporal lobar degeneration: molecular and biochemical analysis.". Paper presented in SSIEM ANNUAL SYMPOSIUM 2014, 2014.
  28. Guiomar, P.; Vaz, M.; Bacalhau, M.; Mendes, C.; Simões, Marta; Pratas, J.; Santos, M.J.; et al. "Molecular and cellular analysis in na unusual LHON case.". Paper presented in SSIEM ANNUAL SYMPOSIUM 2014, 2014.
  29. do Carmo Macário, M.; Duque, C.; Topuz, S; Tomás, J.; Gouveia, A.R.; Rebelo, O.; Ribeiro, C.; et al. "Mitochondrial disorders associated with mitochondrial DNA polymerase gamma mutations in a neurologic adult population". Paper presented in SSIEM ANNUAL SYMPOSIUM 2014, 2014.
  30. Simões, Marta; Mendes, C.; Pratas, J.; Ribeiro, C.; Veríssimo, C.; Santos, M.J.; Diogo, L.; et al. "Biochemical genetics heterogeneity in Leigh Syndrome: a case series of 40 patients.". Paper presented in 10th International Symposium SPDM, 2014.
  31. Vaz, M.; Bacalhau, Mafalda; Mendes, C.; Simões, Marta; Pratas, J.; Santos, M.J.; Diogo, L.; et al. "Functional genomics analysis of an unusual LHON case - preliminary results". Paper presented in 10th International Symposium SPDM, 2014.
  32. Bacalhau, Mafalda; Pratas, J.; Santos, M.J.; Ribeiro, C.; Vaz, M.; Mendes, C.; Simões, Marta; et al. "Establishing the pathogenecity of a novel mitochondrial DNA mutation.". Paper presented in 10th International Symposium SPDM, 2014.
  33. Bacalhau, Mafalda; Pratas, J.; Santos, M.J.; Ribeiro, C.; Vaz, M.; Mendes, C.; Simões, Marta; et al. "Establishing the pathogenicity of novel mitochondrial mtDNA mutations". Paper presented in XI CNC Annual Meeting, 2013.
  34. Guiomar, P.; Vaz, M.; Bacalhau, Mafalda; Mendes, C.; Simões, Marta; Pratas, J.; Santos, M.J.; et al. "Functional genomics analysis of an unusual LHON case". Paper presented in V Annual Meeting of IBILI, 2013.
  35. Veríssimo, C.; Simões, Marta; Mendes, C.; Santos, M.J.; Pratas, J.; Ribeiro, C.; Garcia, P.; Diogo, L.; Grazina, M.. "Relevance of plasma amino acids in mitochondrial respiratory chain disease with liver involvement.". Paper presented in ICIEM 2013: 12th International Congress of Inborn Errors of Metabolism, 2013.
  36. Lapa, T.; Simões, Marta; Mendes, C.; Santos, M.J.; Grazina, M.. "Effect of propofol on mitochondrial DNA in HeLa cells". Paper presented in Euroanaesthesia, 2013.
  37. Simões, Marta; Montero, R.; Mendes, C.; Veríssimo, C.; Pratas, J.; Diogo, L.; Macário, M.C.; et al. "CoQ10 Deficiency screening in portuguese patients with mitochondrial disease". Paper presented in IV Advanced Course and International Workshop on clinical case reports: The second genome: mitochondrial genetics – from genotype and phenotype to clinical expression and genetic counselling, 2013.
Journal article
  1. Bacalhau, Mafalda; Simões, Marta; Rocha, Mariana C.; Hardy, Steven A.; Vincent, Amy E.; Durães, João; Macário, Maria C.; et al. "Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant". Neuromuscular Disorders 28 4 (2018): 350-360. http://dx.doi.org/10.1016/j.nmd.2017.11.006.
    Published • 10.1016/j.nmd.2017.11.006
  2. Bacalhau, Mafalda; Pratas, João; Simões, Marta; Mendes, Cândida; Ribeiro, Carolina; Santos, Maria J.; Diogo, Luisa; Macário, Maria Carmo; Grazina, Manuela. "Response to "In silico prediction is insufficient to assess pathogenicity of mtDNA variants"". European Journal of Medical Genetics 61 1 (2018): 46-47. http://dx.doi.org/10.1016/j.ejmg.2017.08.008.
    Published • 10.1016/j.ejmg.2017.08.008
  3. Costa, Beatriz Pinto; Martins, Paulo; Verissimo, Carla; Simões, Marta; Tomé, Marisa; Grazina, Manuela; Pimentel, Jorge; Sousa, Francisco Castro. "Glutaminemia prognostic significance in critical surgical patients - An analysis of plasma aminogram profile; Significado pronóstico de la glutaminemia en pacientes quirúrgicos críticos - Análisis del perfil del aminograma plasmático". Nutrición Hospitalaria 34 4 (2017): http://dx.doi.org/10.20960/nh.817.
    10.20960/nh.817
  4. Costa, Beatriz Pinto; Martins, Paulo; Verissimo, Carla; Simões, Marta; Tomé, Marisa; Grazina, Manuela; Pimentel, Jorge; Castro-Sousa, Francisco. "Intestinal dysfunction in the critical trauma patients - An early and frequent event". Nutrición Hospitalaria 34 2 (2017): 284-289. http://dx.doi.org/10.20960/nh.788.
    Published • 10.20960/nh.788
  5. Bacalhau, Mafalda; Pratas, João; Simões, Marta; Mendes, Cândida; Ribeiro, Carolina; Santos, Maria J.; Diogo, Luísa; Macário, Maria Carmo; Grazina, Manuela. "In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes". European Journal of Medical Genetics 60 3 (2017): 172-177. http://dx.doi.org/10.1016/j.ejmg.2016.12.009.
    Published • 10.1016/j.ejmg.2016.12.009
  6. Ribeiro, Carolina; do Carmo Macário, Maria; Viegas, Ana Teresa; Pratas, João; Santos, Maria João; Simões, Marta; Mendes, Cândida; et al. "Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency". Mitochondrion 31 (2016): 84-88. http://dx.doi.org/10.1016/j.mito.2016.10.004.
    Published • 10.1016/j.mito.2016.10.004
  7. Yubero, Delia; Montero, Raquel; Martín, Miguel A.; Montoya, Julio; Ribes, Antonia; Grazina, Manuela; Trevisson, Eva; et al. "Secondary coenzyme Q 10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders". Mitochondrion 30 (2016): 51-58. http://dx.doi.org/10.1016/j.mito.2016.06.007.
    Published • 10.1016/j.mito.2016.06.007
  8. Costa, Beatriz P.; Martins, Paulo; Veríssimo, Carla; Simões, Marta; Tomé, Marisa; Grazina, Manuela; Pimentel, Jorge; Castro-Sousa, Francisco. "Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients?". Nutrition & Metabolism 13 1 (2016): http://dx.doi.org/10.1186/s12986-016-0118-6.
    Published • 10.1186/s12986-016-0118-6
  9. Gaspar, Rita; Santana, Isabel; Mendes, Cândida; Fernandes, Ana Sofia; Duro, Diana; Simões, Marta; Luís, Daniela; Santos, Maria João; Grazina, Manuela. "Genetic Variation of MT-ND Genes in Frontotemporal Lobar Degeneration: Biochemical Phenotype-Genotype Correlation". Neurodegenerative Diseases 15 2 (2015): 70-80. http://dx.doi.org/10.1159/000380766.
    Published • 10.1159/000380766
  10. Abrantes, Ana M.; Tavares, Ludgero C.; Pires, Salomé; Casalta-Lopes, João; Mendes, Cândida; Simões, Marta; Grazina, Manuela M.; Carvalho, Rui A.; Botelho, Maria Filomena. "Metabolic Effects of Hypoxia in Colorectal Cancer by 13C NMR Isotopomer Analysis". BioMed Research International 2014 (2014): 1-10. http://dx.doi.org/10.1155/2014/759791.
    Published • 10.1155/2014/759791
  11. Tavares, Mariana Vide; Santos, Maria João; Domingues, Ana Patrícia; Pratas, João; Mendes, Cândida; Simões, Marta; Moura, Paulo; Diogo, Luísa; Grazina, Manuela. "Antenatal manifestations of mitochondrial disorders". Journal of Inherited Metabolic Disease 36 5 (2013): 805-811. http://dx.doi.org/10.1007/s10545-012-9567-x.
    Published • 10.1007/s10545-012-9567-x
  12. Costa, B.P.; Serôdio, M.; Simões, M.; Veríssimo, C.; Sousa, F.C.; Grazina, M.. "Citrullinemia stimulation test in the evaluation of the intestinal function,Citrulinemia prueba de estimulación en la evaluación de la función intestinal". Nutricion Hospitalaria 28 1 (2013): 202-210. http://www.scopus.com/inward/record.url?eid=2-s2.0-84872811329&partnerID=MN8TOARS.
    10.3305/nh.2013.28.1.6243
  13. Montero, R.; Grazina, M.; López-Gallardo, E.; Montoya, J.; Briones, P.; Navarro-Sastre, A.; Land, J.M.; et al. "Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes". Mitochondrion 13 4 (2013): 337-341. http://www.scopus.com/inward/record.url?eid=2-s2.0-84877800522&partnerID=MN8TOARS.
    10.1016/j.mito.2013.04.001
  14. Veríssimo, C.; Garcia, P.; Simões, M.; Robalo, C.; Henriques, R.; Diogo, L.; Grazina, M.. "Nonketotic hyperglycinemia: A cause of encephalopathy in children". Journal of Child Neurology 28 2 (2013): 251-254. http://www.scopus.com/inward/record.url?eid=2-s2.0-84872867628&partnerID=MN8TOARS.
    10.1177/0883073812441063
  15. Henriques, M.; Diogo, L.; Garcia, P.; Pratas, J.; Simões, M.; Grazina, M.. "Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: An unexpected association". Journal of Child Neurology 27 8 (2012): 1059-1061. http://www.scopus.com/inward/record.url?eid=2-s2.0-84864214971&partnerID=MN8TOARS.
    10.1177/0883073811431015
  16. Costa, B.P.; Seródio, M.; Simões, Marta; Veríssimo, C.; Grazina, M.; Sousa, F.C.. "Valor da citrulinémia na avaliação da função intestinal na síndroma do intestino curto. / Citrullinemia levels in the evaluation of intestinal function in short bowel syndrome.". Revista Portuguesa de Cirurgia 20 (2012): 9-19.
    Open access • Published
  17. Costa, B.P.; Serôdio, M.; Rodrigues, A.; Simões, Marta; Veríssimo, C.; Grazina, M.; Sousa, F.C.. "Determinação da citrulinémia após cirurgia Bariátrica Análise Preliminar./ Determination of citrullinemia after bariatric surgery Preliminary Analysis.". Revista da APNEP – Associação Portuguesa de Nutrição Entérica e Parentérica IV 1 (2010): 134.
    Published
  18. Grazina, M.; Silva, F.; Santana, I.; Santiago, B.; Mendes, C.; Simões, M.; Oliveira, M.; Cunha, L.; Oliveira, C.. "Frontotemporal dementia and mitochondrial DNA transitions". Neurobiology of Disease 15 2 (2004): 306-311. http://www.scopus.com/inward/record.url?eid=2-s2.0-1542300730&partnerID=MN8TOARS.
    10.1016/j.nbd.2003.11.004
Preprint
  1. Simões, Marta; Oliveira, Albertina; Pinheiro, Rosário; Vilar, Manuela; Agante, Diana; Pazos, Isabel; Oliveiros, Bárbara; Grazina, Manuela. Corresponding author: Grazina, Manuela. "Well-being biomarkers and psychological functioning of adult patients during chemotherapy treatment: the effects of hospital clowns and hosting conditions.". 2023.
Activities

Oral presentation

Presentation title Event name
Host (Event location)
2023/06/08 (Awarded) Poster presentation - 57ASM - 177 | Mitochondrial genome deletions screening - Does next-generation sequencing solve it all? 57TH ANNUAL SCIENTIFIC MEETING ESCI European Society of Clinical Investigation (Prague, República Checa)
ESCI European Society of Clinical Investigation (Prague)
2023/05/12 The Road So Far and beyond: 28 years of Leber's Hereditary Optic Neuropathy at LBioMiT - past, present and future. Mitoporto 2023
Universidade do Porto (Porto)
2023/05/05 Evaluation of endoplasmic reticulum (ER) stress-mediated apoptosis in LHON patient primary cells 18th International Symposium of the Portuguese Society for Metabolic Disorders
Sociedade Portuguesa de Doenças Metabólicas
2023/03/31 The hole in the whole: mitochondrial DNA deletions screening 19º Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas
Sociedade Portuguesa de Doenças Metabólicas (Figueira da Foz)
2019/03/14 Assembly of OXPHOS system in patients with respiratory chain disease. 15th International SPDM Symposium
SPDM (Coimbra, Portugal)
2018/10/22 Mitochondrial DNA: When the Circle Goes Bad MEETING MITOCHONDRIAL DNA AND DERIVED PEPTIDES IN HEALTH AND DISEASE
(Coimbra, Portugal)
2017/03/16 Advanced Functional Genomics Studies: a step forward in genetics diagnostics. 5ª REUNIÃO DE UTILIZADORES DE PLATAFORMAS NGS
(Coimbra, Portugal)
2017/03/16 Report of a novel mitochondrial ATP8 gene mutation in a patient with severe optic neuropathy: functional demonstration of pathogenicity. 13º Simpósio Internacional da Sociedade Portuguesa de Doenças Metabólicas (SPDM)
SPDM (Évora, Portugal)
2016/03/17 Still mitochondrial dysfunction in Leber's hereditary optic neuropathy pathogenesis. XII International Symposium of SPDM
SPDM (Coimbra, Portugal)
2010/11/04 Biochemical profile in patients with pathogenic mtDNA point mutations: overview of 15 years of Laboratory diagnostic findings VII SIMPÓSIO INTERNACIONAL DA SOCIEDADE PORTUGUESA DE DOENÇAS METABÓLICAS
SPDM (Albufeira, Portugal)

Event organisation

Event name
Type of event (Role) 		Institution / Organization
2020/10/11 - 2020/10/11 Organization participation in Scientific Communication Event from the UC730 Prize entitled: The blindness of a composer and the scientific vision of a rare disease./ Participação na organização: ¿A cegueira de um compositor e a visão na ciência de uma doença rara¿, na sequência da atribuição do prémio UC 730, decorreu o evento (Coordenação Manuela Grazina, com a participação da equipa do LBioMiT e da OCC na organização), de Comunicação científica com um concerto Comentado pela Orquestra Clássica do Centro. (2020/10/11 - 2020/10/11)
Other (Co-organisor)
2020/03/01 - 2020/03/01 Organization Participation: (Scientific Communication) - Partnership between OCC and LBioMiT: COLMusic because "music and science meet in the brain, where all our knowledge is stored" /Participação na organização com Orquestra Clássica Centro: projecto COLmusic, encontros e comunicação entre a Ciência e a Música, porque A música e a ciência encontram-se no cérebro, onde todo o nosso conhecimento é guardado". Tema: Doenças e Eventos Raros no Universo. (2020/03/01 - 2020/03/01)
Concert (Co-organisor)
 Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal

Event participation

Activity description
Type of event 		Event name
Institution / Organization
2016/05/10 - Current Formation concerning Norm ISO 9001:2015 (UC-Biotech, Cantanhede)
Other
 Formação relativa à Norma ISO 9001:2015
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
2016/04/21 - Current Formation concerning Norm ISO 9001:2015 (FMUC, Pólo I, Coimbra)
Other
 Formação relativa à Norma ISO 9001:2015
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
2014/11/20 - Current Formation in Confocal Microscopy
Other
 Formação in Confocal Microscopy
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
2014/11/06 - Current Formation in Fluorescence Microscopy (Axio Observer Z1)
Other
 Formação em Microscopia de Fluorescência (Axio Observer Z1)
University of Coimbra, Center for Neuroscience and Cell Biology, Portugal
2014/05/30 - Current PostGraduate formation: Lysosomal Storage Disorders
Other
 Formação pós graduada SPDM: Doenças de sobrecarga lisossomal
2013/05/13 - Current Training action on preventive maintenance, diagnosis and resolution of problems in HPLC.
Other
 Acção de Formação de Manutenção preventiva, diagnóstico e resolução de problemas em HPLC
Specanalítica, Portugal
2005/11/14 - Current Acção de Formação Pós-Graduada – Erros Hereditários do Metabolismo: Glicogenoses, organizada pela Sociedade Portuguesa de Doenças Metabólicas
Other
 Acção de Formação Pós-Graduada – Erros Hereditários do Metabolismo: Glicogenoses
2005/11/11 - Current Acção de Formação Pós-Graduada - Erros Hereditários do Metabolismo: Defeitos da beta-Oxidação Mitocondrial, organizada pela Sociedade Portuguesa de Doenças Metabólicas
Other
 Acção de Formação Pós-Graduada – Erros Hereditários do Metabolismo: Defeitos da beta-Oxidação Mitocondrial
2005/05/20 - Current Acção de Formação Pós-Graduada - Erros Hereditários do Metabolismo: Defeitos do Ciclo da Ureia, organizada pela Sociedade Portuguesa de Doenças Metabólicas
Other
 Acção de Formação Pós-Graduada – Erros Hereditários do Metabolismo: Defeitos do Ciclo da Ureia
2005/04/29 - Current Acção de Formação Pós-Graduada - Erros Hereditários do Metabolismo: Defeitos do complexo da Piruvato Desidrogenase, organizada pela Sociedade Portuguesa de Doenças Metabólicas
Other
 Acção de Formação Pós-Graduada – Erros Hereditários do Metabolismo: Defeitos do complexo da Piruvato Desidrogenas
2003/12/15 - Current 1º Workshop de Bioquímica Clínica
Workshop
 1º Workshop de Bioquímica Clínica
2023/12/18 - 2023/12/18 LHON Forum 2023. Seminar and round table with international experts a bout LHON disease.
Seminar
 LHON Forum 2023
Chiesi España SA, Spain
2023/04/17 - 2023/04/21 Curso Avançado Proteomics Approaches in Life Sciences, no âmbito do Programa Doutoral em Biologia Experimental e Biomedicina do Centro de Neurociências e Biologia Celular, Universidade de Coimbra
Other
 Curso Avançado Proteomics Approaches in Life Sciences
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2023/03/29 - 2023/03/31 19th International SPDM Symposium - - The next steps in inborn errors of metabolism: the newborn screening to palliative care.
Congress
 19th International SPDM Symposium
2023/01/12 - 2023/01/13 III MAD Meeting - Inflammaging: from societal to clinical challenges
Conference
 III MAD Meeting - Inflammaging: from societal to clinical challenges
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2022/11/28 - 2022/11/28 LHON Forum 2022
Seminar
 LHON Forum 2022
Chiesi España SA, Spain
2022/05/05 - 2022/05/07 18th International Symposium of the Portuguese Society for Metabolic Disorders
Congress
 18th International Symposium of the Portuguese Society for Metabolic Disorders
Sociedade Portuguesa de Doenças Metabólicas, Portugal
2022/03/28 - 2022/03/28 GDPR/RGPD annual training: EU General Data Protection Regulation (GDPR/RGPD) The sessions held by CNC Data Protection Officer, Drª Andreia Costa Andrade.
Seminar
 GDPR/RGPD annual training: EU General Data Protection Regulation (GDPR/RGPD)
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/12/20 - 2021/12/20 LHON Forum 2021. This seminar is designed to spread the knowledge and awareness regarding the pathology, the diagnosis (especially early diagnosis),and therapy of Leber's Hereditary OpticNeuropathy (LHON).
Seminar
 LHON Forum 2021
Chiesi España SA, Spain
2021/11/17 - 2021/11/18 2nd Retreat of CIBB's Metabolism, Aging and Disease Area/ 2º Retiro da Área de Metabolismo, Envelhecimento e Doença do CIBB.
Meeting
 2nd Retreat of CIBB's Metabolism, Aging and Disease Are
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/09/08 - 2021/09/10 Participation in 17th International SPDM Symposium Hybrid Symposium - Linking metabolic signature to IEM treatment.
Symposium
 17th International SPDM Symposium Hybrid Symposium “Linking metabolic signature to IEM treatment”
2021/06/22 - 2021/06/22 GDPR/RGPD annual training: EU General Data Protection Regulation (GDPR/RGPD) and according with his regulation annual training is essential. The sessions held by CNC Data Protection Officer, Drª Andreia Costa Andrade. ONLINE
Seminar
 GDPR/RGPD annual training: EU General Data Protection Regulation (GDPR/RGPD)
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2021/06/09 - 2021/06/11 Participation in 55th ESCI Annual Scientific Meeting, ESCI (European Society for Clinical Investigation).
Meeting
 55th ESCI Annual Scientific Meeting
2021/02/26 - 2021/02/26 Training in Health and Safety at Work (Hiorse)
Other
 Training in Health and Safety at Work
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2020/06/24 - 2020/06/24 GDPR/RGPD annual training: EU General Data Protection Regulation (GDPR/RGPD) and according with his regulation annual training is essential. The sessions held by CNC Data Protection Officer, Drª Andreia Costa Andrade. ONLINE
Other
 GDPR/RGPD annual training
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2020/05/18 - 2020/05/18 Participation in MPS-C2M1: COVID-19 - Supporting MPS Patients in Times of Epidemic - Practical Information for Paediatricians, Excellence in Pediatrics Institute (Online).
Conference
 MPS-C2M1: COVID-19 - Supporting MPS Patients in Times of Epidemic - Practical Information for Paediatrician
2019/12/19 - 2019/12/20 CIBB meeting 2019, 19-20 December, Unidade Central Polo III, University of Coimbra
Meeting
 CIBB meeting 2019
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2019/07/15 - 2019/07/19 VII Cell Culture and Tissue Training Course - Beyond microscope, culturing life, Organizers Faculty of Medicine of University of Coimbra and School of Health Technology of Coimbra
Other
 VII Cell Culture and Tissue Training Course
School of Health Technology of Coimbra, Portugal
2019/03/14 - 2019/03/16 15th International SPDM Symposium. Coimbra, Portugal.
Symposium
 15th International SPDM Symposium
2015/09/01 - 2015/09/04 Annual Symposium SSIEM 2015, Lyon
Symposium
 Annual Symposium SSIEM 2015
SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM, United Kingdom
2013/05/09 - 2013/05/10 Advanced Course and International Workshop on clinical case reports concerning mitochondrial genetics from genotype and phenotype to clinical expression and genetic counselling.
Other
 IV Advanced Course and International Workshop on clinical case reports: The second genome
Universidade de Coimbra Faculdade de Medicina, Portugal
2011/05/27 - 2011/05/27 - abc of Hepatology, Module I, coordination of Dr. Isabel Gonçalves, Paediatrics Hospital of Coimbra
Other
 abc da Hepatologia, Módulo I
Hospital Pediátrico de Coimbra, Portugal
2010/06/09 - 2010/06/11 Scientific training relative to Quantification of CoQ10 assay
Other
Serveis de Bioquímica, Hospital Sant Joan de Deu, Spain
2010/03/20 - 2010/03/21 X International SPDM Symposium, Cascais
Symposium
 X International SPDM Symposium
2008/11/03 - 2008/11/05 Curso de Formação Profissional em Doenças Hereditárias do Metabolismo – V Curso Básico.
Other
 Curso de Formação Curso de Formação Profissional em Doenças Hereditárias do Metabolismo – V Curso Básico
Hospital Pediátrico de Coimbra, Portugal
2008/01/21 - 2008/01/25 Curso de Formação Pós-Graduada “Biomarcadores de Stresse Oxidativo - Interesse e Aplicação”
Workshop
 Curso de Formação Pós-Graduada “Biomarcadores de Stresse Oxidativo - Interesse e Aplicação”
Universidade de Lisboa Faculdade de Farmácia, Portugal
2006/03/24 - 2006/03/26 Curso de Química Clínica integrado no Congresso de Análises Clínicas e Saúde Pública
Other
 Curso de Química Clínica integrado no Congresso de Análises Clínicas e Saúde Pública
2006/01/23 - 2006/01/25 Mini-Course: Estatística Aplicada, integrado no Programa Doctoral do CNC.
Other
 Mini-Course: Estatística Aplicada, integrado no Programa Doctoral do CNC
Universidade de Coimbra Centro de Neurociências e Biologia Celular, Portugal
2003/05/26 - 2003/05/31 Curso de Bioenergética Mitocondrial: Investigação fundamental e uso em Toxicologia Experimental
Other
 Curso de Bioenergética Mitocondrial: Investigação fundamental e uso em Toxicologia Experimental
Universidade de Coimbra Departamento de Ciências da Vida, Portugal

Jury of academic degree

Topic
Role 		Candidate name (Type of degree)
Institution / Organization
2016/07/29 Master Thesis in Medicine : "Deficiency of Krebs Cycle enzymes".
(Thesis) Arguer
 Jaquelina Henriques da Silva (Master)
Universidade de Coimbra Faculdade de Medicina, Portugal

Association member

Society Organization name Role
2023/08/22 - Current Biochemical Society Postgraduate Membership
2014 - Current Research Consortium Coenzyme Q(10) deficiency study group (Coordinator Doutor Rafael Artuch). Publicação de trabalhos conjuntos; Colaboração de diagnóstico da deficiência de coenzima Q10
Distinctions

Award

2021 2nd Prize 2021 ESCI (European Society for Clinical Investigation) Bio Art Award
European Society for Clinical Investigation, Netherlands