Metabolism, Aging and Disease

Mitochondrial Bigenomics and Theranostics

Mitochondrial Biomedicine

Biochemical Genetics

Functional Bigenomics

Theranostics

Pharmacogenomics


Research lines

Analysis of biomarkers associated with wellness strategies

The role of mitochondria in obesity and its intergenerational transmission

MITOCROSS: disclosing epidemiology, bigenomics and mitochondria-intracellular organelle Crosstalk in optic atrophies (e.g. LHON)

Metabolic and pharmacogenomic analysis of drug addicts in pre-detoxification

Genetic factors and theranostic biomarkers (e.g. pain).

Overview

Bigenomic investigation of disorders aims to find molecular and genetic risk factors in mitochondrial DNA (mtDNA) and nuclear genes associated with mitochondrial biology roles in pivotal cellular processes occurring in disease. Based on the fact that mitochondria are constantly communicating with their surroundings and actively involved in determining the function and fate of cells, it is fundamental to understand how genetic defects causing mitochondria dysfunction results in diseases. The group was updated in the latest developments in molecular genetics, including the analysis of exome by Next Generation Sequencing (NGS) technique, and other methodological assays that were developed to support functional genomics. These advances have made possible the functional studies for pathogenicity investigation of novel mutations identified in patients, which became more frequent with the application of NGS analysis.


Regarding the pharmacogenomics studies, they have been in progress since 2007 and the PI (Manuela Grazina) is a member of the CEIBA.FP Consortium of the Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF), since 2012.
The research developed aims to identify genetic alterations and copy number variations that will determine the metabolic profile or targeting depending on genetics, to provide tools for more accurate diagnosis and more rationale treatments, managing risks and preventing drug adverse reactions. These approaches are a step forward in the clinical practice, taking advantage of the most recent techniques in Molecular Biochemistry, Genetics and Bigenomics.

Publications

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Information about journal articles, updated at 15-05-2022, from platform CIÊNCIAVITAE.

Identification of a novel mutation in MEF2C gene in an atypical patient with Frontotemporal Lobar Degeneration

Grazina, Manuela, 2021. Neurological Sciences. 2021. in press Neurological Sciences

MPV17 Mutations Are Associated With a Quiescent Energetic Metabolic Profile

Jacinto, Sandra; Guerreiro, Patrícia; de Oliveira, Rita Machado; Cunha-Oliveira, Teresa; Santos, Maria João; Grazina, Manuela; Rego, Ana Cristina; Outeiro, Tiago F., 2021. Frontiers in Cellular Neuroscience. 15. 2021. http://dx.doi.org/10.3389/fncel.2021.641264 . 10.3389/fncel.2021.641264 . published Frontiers in Cellular Neuroscience

MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal

Silva, Filipe; Ferreira, Filipa; Faria, Pedro; Sobral, Isa; Rodrigues, Mariana; Pratas, João; Silva, João Filipe; et al, 2020. Acta Médica Portuguesa. 13. 34. 2020. http://dx.doi.org/10.20344/amp.14922 . 10.20344/amp.14922 . published Acta Médica Portuguesa

Genomic Ancestry, CYP2D6, CYP2C9, and CYP2C19 Among Latin Americans

Rodrigues-Soares, Fernanda; Peñas-Lledó, Eva M.; Tarazona-Santos, Eduardo; Sosa-Macías, Martha; Terán, Enrique; López-López, Marisol; Rodeiro, Idania; et al, 2019. Clinical Pharmacology & Therapeutics. 257 - 268. 1. 107. 2019. http://dx.doi.org/10.1002/cpt.1598 . 10.1002/cpt.1598 . published Clinical Pharmacology & Therapeutics

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

Bacalhau, Mafalda; Simões, Marta; Rocha, Mariana C.; Hardy, Steven A.; Vincent, Amy E.; Durães, João; Macário, Maria C.; et al, 2018. Neuromuscular Disorders. 350 - 360. 4. 28. 2018. http://dx.doi.org/10.1016/j.nmd.2017.11.006 . 10.1016/j.nmd.2017.11.006 . Neuromuscular Disorders

CYP2D6 Pharmacogenetics Testing and Post–Cesarean Section Pain Scores—a Preliminary Study

Ribeiro, Carolina; Quinta, Rosa; Raposo, Ana; Valentim, Ana; Albuquerque, José; Grazina, Manuela, 2018. Pain Medicine. 359 - 368. 2. 20. 2018. http://dx.doi.org/10.1093/pm/pny033 . 10.1093/pm/pny033 . Pain Medicine

Interethnic Variability in CYP2D6, CYP2C9, and CYP2C19 Genes and Predicted Drug Metabolism Phenotypes Among 6060 Ibero- and Native Americans: RIBEF-CEIBA Consortium Report on Population Pharmacogenomics

Naranjo, María-Eugenia G.; Rodrigues-Soares, Fernanda; Peñas-Lledó, Eva M.; Tarazona-Santos, Eduardo; Fariñas, Humberto; Rodeiro, Idania; Terán, Enrique; et al, 2018. OMICS: A Journal of Integrative Biology. 575 - 588. 9. 22. 2018. http://dx.doi.org/10.1089/omi.2018.0114 . 10.1089/omi.2018.0114 . OMICS: A Journal of Integrative Biology

Response to "In silico prediction is insufficient to assess pathogenicity of mtDNA variants".

Bacalhau, M.; Pratas, J.; Simões, M.; Mendes, C.; Ribeiro, C.; Santos, MJ; Diogo, L.; Macário, MC; Grazina, Manuela (1F10-D85D-B592), 2017. European journal of medical genetics. 2017. http://europepmc.org/abstract/med/28807868 . 10.1016/j.ejmg.2017.08.008 . European journal of medical genetics

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

Costa, Beatriz Pinto; Martins, Paulo; Verissimo, Carla; Simões, Marta; Tomé, Marisa; Grazina, Manuela; Pimentel, Jorge; Sousa, Francisco Castro, 2017. Nutrición Hospitalaria. 4. 34. 2017. http://dx.doi.org/10.20960/nh.817 . 10.20960/nh.817 . published Nutrición Hospitalaria

Intestinal dysfunction in the critical trauma patients – An early and frequent event

Costa, Beatriz Pinto; Martins, Paulo; Verissimo, Carla; Simões, Marta; Tomé, Marisa; Grazina, Manuela; Pimentel, Jorge; Castro-Sousa, Francisco, 2017. Nutrición Hospitalaria. 2. 34. 2017. http://dx.doi.org/10.20960/nh.788 . 10.20960/nh.788 . published Nutrición Hospitalaria

In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes

Bacalhau, Mafalda; Pratas, João; Simões, Marta; Mendes, Cândida; Ribeiro, Carolina; Santos, Maria J.; Diogo, Luísa; Macário, Maria Carmo; Grazina, Manuela, 2017. European Journal of Medical Genetics. 172 - 177. 3. 60. 2017. http://dx.doi.org/10.1016/j.ejmg.2016.12.009 . 10.1016/j.ejmg.2016.12.009 . published European Journal of Medical Genetics

Genotyping CYP2D6 by three different methods: advantages and disadvantages

Ribeiro, Carolina; Martins, Patrícia; Grazina, Manuela, 2017. Drug Metabolism and Personalized Therapy. 1. 32. 2017. http://dx.doi.org/10.1515/dmpt-2016-0035 . 10.1515/dmpt-2016-0035 . published Drug Metabolism and Personalized Therapy

mtDNA copy number associated with age of onset in familial amyloid polyneuropathy

Santos, Diana; Santos, Maria João; Alves-Ferreira, Miguel; Coelho, Teresa; Sequeiros, Jorge; Alonso, Isabel; Oliveira, Pedro; et al, 2017. Journal of Neurology, Neurosurgery & Psychiatry. 300 - 304. 3. 89. 2017. http://dx.doi.org/10.1136/jnnp-2017-316657 . 10.1136/jnnp-2017-316657 . Journal of Neurology, Neurosurgery & Psychiatry

Association of p.Val158Met COMT polymorphism with paranoid ideation in drug addicts

Ribeiro, Carolina; Curto, João; Areias, Graça; Belo, Adriana; Balhau, João; Rocha Almeida, José; Grazina, Manuela, 2017. International Journal of Clinical Neurosciences and Mental Health. 4(Suppl. 3. 2017. http://dx.doi.org/10.21035/ijcnmh.2017.4(suppl.3).s12 . 10.21035/ijcnmh.2017.4(suppl.3).s12 . published International Journal of Clinical Neurosciences and Mental Health

Relevance of the ancestry for the variability of the Drug-Metabolizing Enzymes CYP2C9, CYP2C19 and CYP2D6 polymorphisms in a multiethnic Costa Rican population

Céspedes-Garro, Carolina; Rodrigues-Soares, Fernanda; Jiménez-Arce, Gerardo; G. Naranjo, María-Eugenia; Tarazona-Santos, Eduardo; Fariñas, Humberto; Barrantes, Ramiro; Llerena, Adrián; CEIBA.FP Consortium for the Ibero-American Network of Pharmacogenomics RIBEF, 2016. Revista de Biología Tropical. 3. 64. 2016. http://dx.doi.org/10.15517/rbt.v64i3.20901 . 10.15517/rbt.v64i3.20901 . Revista de Biología Tropical

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.

Ribeiro C; do Carmo Macário M; Viegas AT; Pratas J; Santos MJ; Simões M; Mendes C; et al, 2016. 2016. http://europepmc.org/abstract/med/27756633 . 10.1016/j.mito.2016.10.004 .

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D; Montero R; Martín MA; Montoya J; Ribes A; Grazina M; Trevisson E; et al, 2016. 2016. http://europepmc.org/abstract/med/27374853 . 10.1016/j.mito.2016.06.007 .

Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.

Oliveira R; Sommerville EW; Thompson K; Nunes J; Pyle A; Grazina M; Chinnery PF; et al, 2016. JIMD Reports. 61 - 68. 33. 2016. http://europepmc.org/abstract/med/27571996 . 10.1007/8904_2016_581 . published JIMD Reports

Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients?

Costa BP; Martins P; Veríssimo C; Simões M; Tomé M; Grazina M; Pimentel J; Castro-Sousa F, 2016. 2016. http://europepmc.org/abstract/med/27582779 . 10.1186/s12986-016-0118-6 .

High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme.

Apellániz-Ruiz M; Inglada-Pérez L; Naranjo ME; Sánchez L; Mancikova V; Currás-Freixes M; de Cubas AA; et al, 2015. 2015. http://europepmc.org/abstract/med/25348618 . 10.1038/tpj.2014.67 .

AS TOXICODEPENDÊNCIAS ¿ A PROCURA INCESSANTE DA FELICIDADE? / Drug addictions - the incessant search for happiness?

Grazina, Manuela, 2015. Adictologia. 8 - 9. 1. 2015. published Adictologia

Pharmacogenomics of cocaine addiction.

Grazina, Manuela; Macedo, C; Ribeiro, C.; Curto, J, 2015. Adictologia. 28 - 39. 1. 2015. published Adictologia

Pharmacogenetics in Central American healthy volunteers: interethnic variability.

Céspedes-Garro C; Naranjo ME; Ramírez R; Serrano V; Fariñas H; Barrantes R; LLerena A; CEIBA Consortium of the Ibero-American Network of Pharmacogenetics and Pharmacogenomics RIBEF, 2015. 2015. http://europepmc.org/abstract/med/25490028 .

Genetic Variation of MT-ND Genes in Frontotemporal Lobar Degeneration: Biochemical Phenotype-Genotype Correlation.

Gaspar R; Santana I; Mendes C; Fernandes AS; Duro D; Simões M; Luís D; Santos MJ; Grazina M, 2015. 2015. http://europepmc.org/abstract/med/25871488 . 10.1159/000380766 .

Metabolic effects of hypoxia in colorectal cancer by 13C NMR isotopomer analysis

Abrantes, A.M.; Tavares, L.C.; Pires, S.; Casalta-Lopes, J.; Mendes, C.; Simões, M.; Grazina, M.M.; Carvalho, R.A.; Botelho, M.F., 2014. BioMed Research International. 2014. 2014. http://www.scopus.com/inward/record.url?eid=2-s2.0-84904819813&partnerID=MN8TOARS . 10.1155/2014/759791 . BioMed Research International

Ethnic background and CYP2D6 genetic polymorphisms in Costa Ricans

Céspedes-Garro, Carolina; Jiménez-Arce, Gerardo; Naranjo, María-Eugenia G.; Barrantes, Ramiro; LLerena, Adrián; Institucional, Autor, 2014. Revista de Biología Tropical. 4. 62. 2014. http://dx.doi.org/10.15517/rbt.v62i4.12916 . 10.15517/rbt.v62i4.12916 . Revista de Biología Tropical

CYP2D6-1584C>G promoter polymorphism and debrisoquine ultrarapid hydroxylation in healthy volunteers

Llerena, A.; Dorado, P.; Ramírez, R.; Calzadilla, L.R.; Peñas-Lledó, E.; Álvarez, M.; Naranjo, M.E.; González, I.; Pérez, B., 2013. Pharmacogenomics. 1973 - 1977. 16. 14. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84889046926&partnerID=MN8TOARS . 10.2217/pgs.13.181 . Pharmacogenomics

Evaluation of drug-metabolizing enzyme hydroxylation phenotypes in Hispanic populations: The CEIBA cocktail

De Andrés, F.; Sosa-Macías, M.; Lazalde-Ramos, B.P.; Naranjo, M.E.G.; Tarazona-Santos, E.; Llerena, A.; Moya, G.E.; et al, 2013. Drug Metabolism and Drug Interactions. 135 - 146. 3. 28. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84888082961&partnerID=MN8TOARS . 10.1515/dmdi-2013-0020 . Drug Metabolism and Drug Interactions

Characterization of CYP2D6 genotypes and metabolic profiles in the Portuguese population: Pharmacogenetic implications

Albuquerque, J.; Ribeiro, C.; Naranjo, M.E.G.; Llerena, A.; Grazina, M., 2013. Personalized Medicine. 709 - 718. 7. 10. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84884149194&partnerID=MN8TOARS . 10.2217/pme.13.56 . Personalized Medicine

Antenatal manifestations of mitochondrial disorders

Tavares, M.V.; Santos, M.J.; Domingues, A.P.; Pratas, J.; Mendes, C.; Simões, M.; Moura, P.; Diogo, L.; Grazina, M., 2013. Journal of Inherited Metabolic Disease. 805 - 811. 5. 36. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84884350140&partnerID=MN8TOARS . 10.1007/s10545-012-9567-x . Journal of Inherited Metabolic Disease

Nonketotic hyperglycinemia: A cause of encephalopathy in children

Veríssimo, C.; Garcia, P.; Simões, M.; Robalo, C.; Henriques, R.; Diogo, L.; Grazina, M., 2013. Journal of Child Neurology. 251 - 254. 2. 28. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84872867628&partnerID=MN8TOARS . 10.1177/0883073812441063 . Journal of Child Neurology

Long term cortical plasticity in visual retinotopic areas in humans with silent retinal ganglion cell loss

d'Almeida, O.C.; Mateus, C.; Reis, A.; Grazina, M.M.; Castelo-Branco, M., 2013. NeuroImage. 222 - 230. 81. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84878825124&partnerID=MN8TOARS . 10.1016/j.neuroimage.2013.05.032 . NeuroImage

Coenzyme Q10 deficiency in mitochondrial DNA depletion syndromes

Montero, R.; Grazina, M.; López-Gallardo, E.; Montoya, J.; Briones, P.; Navarro-Sastre, A.; Land, J.M.; et al, 2013. Mitochondrion. 337 - 341. 4. 13. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84877800522&partnerID=MN8TOARS . 10.1016/j.mito.2013.04.001 . Mitochondrion

Citrullinemia stimulation test in the evaluation of the intestinal function | Citrulinemia prueba de estimulación en la evaluación de la función intestinal

Costa, B.P.; Serôdio, M.; Simões, M.; Veríssimo, C.; Sousa, F.C.; Grazina, M., 2013. Nutricion Hospitalaria. 202 - 210. 1. 28. 2013. http://www.scopus.com/inward/record.url?eid=2-s2.0-84872811329&partnerID=MN8TOARS . 10.3305/nh.2013.28.1.6243 . Nutricion Hospitalaria

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: An unexpected association

Henriques, M.; Diogo, L.; Garcia, P.; Pratas, J.; Simões, M.; Grazina, M., 2012. Journal of Child Neurology. 1059 - 1061. 8. 27. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84864214971&partnerID=MN8TOARS . 10.1177/0883073811431015 . Journal of Child Neurology

Mitochondrial respiratory chain: Biochemical analysis and criterion for deficiency in diagnosis

Grazina, M.M., 2012. Methods in Molecular Biology. 73 - 91. 837. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84856321622&partnerID=MN8TOARS . 10.1007/978-1-61779-504-6_6 . Methods in Molecular Biology

CYP2C19 (+ or -)*2/(+ or -)*17 Diplotypes: Prognostic impactson patients with acute coronary syndrome

Teixeira, Rogério; Grazina, Manuela; Monteiro, Pedro; Soares, Francisco; Lourenço, Margarida; Pêgo, Guilherme, 2012. World Journal of Cardiovascular Diseases. 260 - 268. 04. 02. 2012. http://dx.doi.org/10.4236/wjcd.2012.24041 . 10.4236/wjcd.2012.24041 . World Journal of Cardiovascular Diseases

Neonatal liver failure due to deoxyguanosine kinase deficiency.

Nobre, S.; Grazina, M.; Silva, F.; Pinto, C.; Gonçalves, I.; Diogo, L., 2012. BMJ case reports. 2012. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84873545510&partnerID=MN8TOARS . 10.1136/bcr.12.2011.5317 . BMJ case reports

Mitochondrial metabolism in Parkinson's disease impairs quality control autophagy by hampering microtubule-dependent traffic

Arduíno, D.M.; Esteves, A.R.; Cortes, L.; Silva, D.F.; Patel, B.; Grazina, M.; Swerdlow, R.H.; Oliveira, C.R.; Cardoso, S.M., 2012. Human Molecular Genetics. 4680 - 4702. 21. 21. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84867828156&partnerID=MN8TOARS . 10.1093/hmg/dds309 . Human Molecular Genetics

Eating disorder symptoms and CYP2D6 variation in cuban healthy females: A report from the Ibero-American network of pharmacogenetics

Peñas-Lledó, E.M.; González, I.; Dorado, P.; Pérez, B.; Calzadilla, L.R.; Alvárez, M.; Naranjo, M.E.G.; Llerena, A., 2012. Current Pharmacogenomics and Personalized Medicine. 288 - 292. 4. 10. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84874831233&partnerID=MN8TOARS . Current Pharmacogenomics and Personalized Medicine

Losartan hydroxylation phenotype in an Ecuadorian population: Influence of CYP2C9 genetic polymorphism, habits and gender

Dorado, P.; Beltrán, L.J.; MacHín, E.; Peñas-Lledó, E.M.; Terán, E.; Llerena, A., 2012. Pharmacogenomics. 1711 - 1717. 15. 13. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84870042059&partnerID=MN8TOARS . 10.2217/pgs.12.160 . Pharmacogenomics

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

Beatriz Pinto Costa de Almeida; marco Serôdio; Marta Simões; Carla Veríssimo; Grazina, Manuela; F. Castro Sousa, 2012. Revista Portuguesa de Cirurgia. 9 - 19. 20. II. 2012. https://revista.spcir.com/index.php/spcir/article/view/51 . published Revista Portuguesa de Cirurgia

Development of a HPLC method for the determination of losartan urinary metabolic ratio to be used for the determination of CYP2C9 hydroxylation phenotypes

Dorado, P.; Machín, E.; De Andrés, F.; Naranjo, M.-E.G.; Peñas-Lledó, E.M.; Llerena, A.; Dorado P; et al, 2012. Drug Metabolism and Drug Interactions. 217 - 223. 4. 27. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84877952687&partnerID=MN8TOARS . 10.1515/dmdi-2012-0018 . Drug Metabolism and Drug Interactions

Pharmacogenetics in Latin American populations: Regulatory aspects, application to herbal medicine, cardiovascular and psychiatric disorders

Rodeiro, I.; Remírez-Figueredo, D.; García-Mesa, M.; Dorado, P.; Llerena, A.; Moya, G.E.; Ferrero, V.; et al, 2012. Drug Metabolism and Drug Interactions. 57 - 60. 1. 27. 2012. http://www.scopus.com/inward/record.url?eid=2-s2.0-84860531136&partnerID=MN8TOARS . 10.1515/dmdi-2012-0006 . Drug Metabolism and Drug Interactions

Determinação da citrulinémia após cirurgia Bariátrica ¿ Análise Preliminar / Determination of citrullinemia after bariatric surgery

Costa, BP; Serôdio, M.; Rodrigues, A; Simões, Marta; Veríssimo, C.; Grazina, Manuela; Sousa, FC, 2010. APNEP – Associação Portuguesa de Nutrição Entérica e Parentérica. 1. IV. 2010. published APNEP – Associação Portuguesa de Nutrição Entérica e Parentérica

Value of Brain Magnetic Resonance Imaging in Mitochondrial Respiratory Chain Disorders

Diogo, L.; Cordeiro, M.; Garcia, P.; Fineza, I.; Moura, C.; Oliveira, C.R.; Veiga, M.; Garcia, T.; Grazina, M., 2010. Pediatric Neurology. 196 - 200. 3. 42. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-76249116575&partnerID=MN8TOARS . 10.1016/j.pediatrneurol.2009.09.010 . Pediatric Neurology

Mitochondrial-dependent apoptosis in Huntington's disease human cybrids

Ferreira, I.L.; Nascimento, M.V.; Ribeiro, M.; Almeida, S.; Cardoso, S.M.; Grazina, M.; Pratas, J.; et al, 2010. Experimental Neurology. 243 - 255. 2. 222. 2010. http://www.scopus.com/inward/record.url?eid=2-s2.0-77549084450&partnerID=MN8TOARS . 10.1016/j.expneurol.2010.01.002 . Experimental Neurology

The brain-heart connection in mitochondrial respiratory chain diseases.

Cordeiro M; Scaglia F; Lopes Da Silva S; Garcia P; Grazina M; Moura C; Diogol L; et al, 2009. Neuroradiology Journal. 558 - 563. 5. 22. 2009. http://europepmc.org/abstract/med/24209401 . 10.1177/197140090902200508 . Neuroradiology Journal

Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal

Diogo, L.; Grazina, M.; Garcia, P.; Rebelo, O.; Veiga, M.A.; Cuevas, J.; Vilarinho, L.; de Almeida, I.T.; Oliveira, C.R., 2009. Pediatric Neurology. 351 - 356. 5. 40. 2009. http://www.scopus.com/inward/record.url?eid=2-s2.0-64549161480&partnerID=MN8TOARS . 10.1016/j.pediatrneurol.2008.11.012 . Pediatric Neurology

Atypical presentation of Leber's hereditary optic neuropathy associated to mtDNA 11778G>A point mutation-A case report

Grazina, M.M.; Diogo, L.M.; Garcia, P.C.; Silva, E.D.; Garcia, T.D.; Robalo, C.B.; Oliveira, C.R., 2007. European Journal of Paediatric Neurology. 115 - 118. 2. 11. 2007. http://www.scopus.com/inward/record.url?eid=2-s2.0-33847234224&partnerID=MN8TOARS . 10.1016/j.ejpn.2006.11.015 . European Journal of Paediatric Neurology

Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: No association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene

Correia, C.; Coutinho, A.M.; Diogo, L.; Grazina, M.; Marques, C.; Miguel, T.; Ataíde, A.; et al, 2006. Journal of Autism and Developmental Disorders. 1137 - 1140. 8. 36. 2006. http://www.scopus.com/inward/record.url?eid=2-s2.0-33845912666&partnerID=MN8TOARS . 10.1007/s10803-006-0138-6 . Journal of Autism and Developmental Disorders

Genetic basis of Alzheimer's dementia: Role of mtDNA mutations

Grazina, M.; Pratas, J.; Silva, F.; Oliveira, S.; Santana, I.; Oliveira, C., 2006. Genes, Brain and Behavior. 92 - 107. SUPPL. 2. 5. 2006. http://www.scopus.com/inward/record.url?eid=2-s2.0-33646236099&partnerID=MN8TOARS . 10.1111/j.1601-183X.2006.00225.x . Genes, Brain and Behavior

Mitochondrial dysfunction in autism spectrum disorders: A population-based study

Oliveira, G.; Diogo, L.; Grazina, M.; Garcia, P.; Ataíde, A.; Marques, C.; Miguel, T.; et al, 2005. Developmental Medicine and Child Neurology. 185 - 189. 3. 47. 2005. http://www.scopus.com/inward/record.url?eid=2-s2.0-14044258489&partnerID=MN8TOARS . 10.1017/S0012162205000332 . Developmental Medicine and Child Neurology

Mitochondrial DNA variants in a Portuguese population of patients with Alzheimer's disease

Grazina, M.; Silva, F.; Santana, I.; Pratas, J.; Santiago, B.; Oliveira, M.; Carreira, I.; Cunha, L.; Oliveira, C., 2005. European Neurology. 121 - 124. 3. 53. 2005. http://www.scopus.com/inward/record.url?eid=2-s2.0-20844462230&partnerID=MN8TOARS . 10.1159/000085555 . European Neurology

Frontotemporal dementia and mitochondrial DNA transitions

Grazina, M.; Silva, F.; Santana, I.; Santiago, B.; Mendes, C.; Simões, M.; Oliveira, M.; Cunha, L.; Oliveira, C., 2004. Neurobiology of Disease. 306 - 311. 2. 15. 2004. http://www.scopus.com/inward/record.url?eid=2-s2.0-1542300730&partnerID=MN8TOARS . 10.1016/j.nbd.2003.11.004 . Neurobiology of Disease

Parkinson's disease and mitochondrial DNA NADH dehydrogenase subunit 1 nucleotides 3337-3340: Study in a population from the central region of Portugal (Coimbra)

Grazina, M.; Silva, F.; Januário, C.; Oliveira, M.; Cunha, L.; Oliveira, C., 2003. European Neurology. 60 - 61. 1. 50. 2003. http://www.scopus.com/inward/record.url?eid=2-s2.0-0038307365&partnerID=MN8TOARS . 10.1159/000070863 . European Neurology

Prion Human Diseases: 14-3-3 Protein Utility in the Diagnosis

Grazina, Manuela; Silva, FMP; Oliveira, CR, 2001. Sinapse. 10 - 16. 1. 1. 2001. published Sinapse

Influence of apolipoprotein E genotype on blood redox status of Alzheimer's disease patients.

Fernandes MA; Proenca MT; Nogueira AJ; Grazina MM; Oliveira LM; Fernandes AI; Santiago B; et al, 1999. International journal of molecular medicine. 179 - 186. 2. 4. 1999. http://europepmc.org/abstract/med/10402486 . International journal of molecular medicine

Anodic behavior of someVinca alkaloids with cytostatic activity: Effect of pH

Brett, A. M. Oliveira; Grazina, M. M. M.; Macedo, T. R. A.; Raimundo, D., 1994. Electroanalysis. 57 - 61. 1. 6. 1994. http://dx.doi.org/10.1002/elan.1140060111 . 10.1002/elan.1140060111 . published Electroanalysis

Electrochemical study of a group of anticancer drugs

Ana Maria Oliveira Brett; Grazina, Manuela; Macedo, T.R.A.; Raimundo, D., 1993. Portugaliae Electrochimica Acta. 129 - 132. 11. 1993. published Portugaliae Electrochimica Acta

Linkage and association study of the Dopamine D4 receptor gene and Psychosis

Petronis, A; Grazina, Manuela; Vicente, A.C.; Pato, CN; Azevedo, MHP; Meltzer, HY; Lieberman, JA; et al, 1993. Psychiatric Genetics. 155 - 156. 3. 1993. published Psychiatric Genetics

A study of the electrochemical oxidation of Navelbine.

Brett AM; Grazina MM; Macedo TR; Oliveira C; Raimundo D; Brett, A.M.O.; Grazina, M.M.M.; et al, 1993. Journal of Pharmaceutical and Biomedical Analysis. 203 - 206. 3. 11. 1993. http://europepmc.org/abstract/med/8518318 . 10.1016/0731-7085(93)80197-9 . Journal of Pharmaceutical and Biomedical Analysis

Dopaminergic system in Mexican schizophrenics

Nicoli, H; Sidenberg, D; Camarena, B; Guerra, C; Grazina, Manuela; Petronis, A; Kennedy, JL, 1993. Rev. Inv. Clin. 345 - 352. 45. 4. 1993. published Rev. Inv. Clin

Awards

2001

Best conference award

2012

Medal of Municipal Merit – Gold Grade

2014

Best Professor at FMUC

2019

The Orquestra Clássica do Centro, honoring “women in Science”, dedicated its first Prestige Concert of 2019 to Manuela Grazina

2020

Award UC 730

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