Mitochondrial Biomedicine
Biochemical Genetics
Functional Bigenomics
Theranostics
Pharmacogenomics
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).
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.
Information about journal articles, updated at 22-12-2024, from platform CIÊNCIAVITAE.
GenEye24: Novel rapid screening test for the top-3 Leber’s Hereditary Optic Neuropathy pathogenic sequence variants
Martins, Sara; Santos, Maria João; Teixeira, Márcia; Diogo, Luísa; do Carmo Macário, Maria; Marques, João Pedro; Fonseca, Pedro; Grazina, Manuela, 2023. Mitochondrion. 64 - 70. 69. 2023. http://dx.doi.org/10.1016/j.mito.2023.01.006 . 10.1016/j.mito.2023.01.006 . published Mitochondrion
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 .
AS TOXICODEPENDÊNCIAS ¿ A PROCURA INCESSANTE DA FELICIDADE? / Drug addictions - the incessant search for happiness?
Grazina, Manuela, 2015. Adictologia. 8 - 9. 1. 2015. published Adictologia
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 .
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 .
Pharmacogenomics of cocaine addiction.
Grazina, Manuela; Macedo, C; Ribeiro, C.; Curto, J, 2015. Adictologia. 28 - 39. 1. 2015. published Adictologia
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
5 64 out of 64 Publications
Best conference award
Medal of Municipal Merit – Gold Grade
Best Professor at FMUC
The Orquestra Clássica do Centro, honoring “women in Science”, dedicated its first Prestige Concert of 2019 to Manuela Grazina
Award UC 730
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