Maria Manuela Monteiro Grazina
AuthID: R-000-CA1
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TITLE: Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders Full Text
AUTHORS: Yubero, D; Montero, R; Martín, MA; Montoya, J; Ribes, A; Grazina, M; Trevisson, E; Rodriguez Aguilera, JC; Hargreaves, IP; Salviati, L; Navas, P; Artuch, R; Jou, C; Jimenez Mallebrera, C; Nascimento, A; Pérez Dueñas, B; Ortez, C; Ramos, F; Colomer, J; O'Callaghan, M; ...More
PUBLISHED: 2016, SOURCE: MITOCHONDRION, VOLUME: 30
AUTHORS: Yubero, D; Montero, R; Martín, MA; Montoya, J; Ribes, A; Grazina, M; Trevisson, E; Rodriguez Aguilera, JC; Hargreaves, IP; Salviati, L; Navas, P; Artuch, R; Jou, C; Jimenez Mallebrera, C; Nascimento, A; Pérez Dueñas, B; Ortez, C; Ramos, F; Colomer, J; O'Callaghan, M; ...More
PUBLISHED: 2016, SOURCE: MITOCHONDRION, VOLUME: 30
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TITLE: Argininemia and plasma arginine bioavailability - predictive factors of mortality in the severe trauma patients? Full Text
AUTHORS: Beatriz P Costa; Paulo Martins; Carla Verissimo; Marta Simoes; Marisa Tome; Manuela Grazina; Jorge Pimentel; Francisco Castro Sousa;
PUBLISHED: 2016, SOURCE: NUTRITION & METABOLISM, VOLUME: 13, ISSUE: 1
AUTHORS: Beatriz P Costa; Paulo Martins; Carla Verissimo; Marta Simoes; Marisa Tome; Manuela Grazina; Jorge Pimentel; Francisco Castro Sousa;
PUBLISHED: 2016, SOURCE: NUTRITION & METABOLISM, VOLUME: 13, ISSUE: 1
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TITLE: Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency Full Text
AUTHORS: Ribeiro, C; Macario, MD; Viegas, AT; Pratas, J; Santos, MJ; Simoes, M; Mendes, C; Bacalhau, M; Garcia, P; Diogo, L; Grazina, M;
PUBLISHED: 2016, SOURCE: MITOCHONDRION, VOLUME: 31
AUTHORS: Ribeiro, C; Macario, MD; Viegas, AT; Pratas, J; Santos, MJ; Simoes, M; Mendes, C; Bacalhau, M; Garcia, P; Diogo, L; Grazina, M;
PUBLISHED: 2016, SOURCE: MITOCHONDRION, VOLUME: 31
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TITLE: Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features
AUTHORS: Renata Oliveira; Ewen W Sommerville; Kyle Thompson; Joana Nunes; Angela Pyle; Manuela Grazina; Patrick F Chinnery; Luísa Diogo; Paula Garcia; Robert W Taylor;
PUBLISHED: 2016, SOURCE: JIMD Reports - JIMD Reports, Volume 33
AUTHORS: Renata Oliveira; Ewen W Sommerville; Kyle Thompson; Joana Nunes; Angela Pyle; Manuela Grazina; Patrick F Chinnery; Luísa Diogo; Paula Garcia; Robert W Taylor;
PUBLISHED: 2016, SOURCE: JIMD Reports - JIMD Reports, Volume 33
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TITLE: Genetic Variation of MT-ND Genes in Frontotemporal Lobar Degeneration: Biochemical Phenotype-Genotype Correlation
AUTHORS: Rita Gaspar; Isabel Santana; Candida Mendes; Ana Sofia Fernandes; Diana Duro; Marta Simoes; Daniela Luis; Maria Joao Santos; Manuela Grazina;
PUBLISHED: 2015, SOURCE: NEURODEGENERATIVE DISEASES, VOLUME: 15, ISSUE: 2
AUTHORS: Rita Gaspar; Isabel Santana; Candida Mendes; Ana Sofia Fernandes; Diana Duro; Marta Simoes; Daniela Luis; Maria Joao Santos; Manuela Grazina;
PUBLISHED: 2015, SOURCE: NEURODEGENERATIVE DISEASES, VOLUME: 15, ISSUE: 2
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TITLE: The hidden story behind gender differences in familial amyloid polyneuropathy (FAP) ATTRV30M Full Text
AUTHORS: Diana Santos; Teresa Coelho; Miguel Alves-Ferreira; Jorge Sequeiros; Isabel Alonso; Manuela Grazina; Alda Sousa; Carolina Lemos;
PUBLISHED: 2015, SOURCE: Orphanet Journal of Rare Diseases, VOLUME: 10, ISSUE: Suppl 1
AUTHORS: Diana Santos; Teresa Coelho; Miguel Alves-Ferreira; Jorge Sequeiros; Isabel Alonso; Manuela Grazina; Alda Sousa; Carolina Lemos;
PUBLISHED: 2015, SOURCE: Orphanet Journal of Rare Diseases, VOLUME: 10, ISSUE: Suppl 1
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TITLE: Metabolic Effects of Hypoxia in Colorectal Cancer by C-13 NMR Isotopomer Analysis Full Text
AUTHORS: Ana M Abrantes ; Ludgero C Tavares; Salome Pires; Joao Casalta Lopes; Candida Mendes; Marta Simoes; Manuela M Grazina; Rui A Carvalho; Maria Filomena Botelho ;
PUBLISHED: 2014, SOURCE: BIOMED RESEARCH INTERNATIONAL, VOLUME: 2014
AUTHORS: Ana M Abrantes ; Ludgero C Tavares; Salome Pires; Joao Casalta Lopes; Candida Mendes; Marta Simoes; Manuela M Grazina; Rui A Carvalho; Maria Filomena Botelho ;
PUBLISHED: 2014, SOURCE: BIOMED RESEARCH INTERNATIONAL, VOLUME: 2014
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TITLE: High frequency and founder effect of the CYP3A4*20 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme Full Text
AUTHORS: Apellániz-Ruiz, M; Inglada-Pérez, L; Naranjo, MEG; Sánchez, L; Mancikova, V; Currás-Freixes, M; de Cubas, AA; Comino-Méndez, I; Triki, S; Rebai, A; Rasool, M; Moya, G; Grazina, M; Opocher, G; Cascón, A; Taboada-Echalar, P; Ingelman-Sundberg, M; Carracedo, A; Robledo, M; Llerena, A; ...More
PUBLISHED: 2014, SOURCE: Pharmacogenomics J - The Pharmacogenomics Journal, VOLUME: 15, ISSUE: 3
AUTHORS: Apellániz-Ruiz, M; Inglada-Pérez, L; Naranjo, MEG; Sánchez, L; Mancikova, V; Currás-Freixes, M; de Cubas, AA; Comino-Méndez, I; Triki, S; Rebai, A; Rasool, M; Moya, G; Grazina, M; Opocher, G; Cascón, A; Taboada-Echalar, P; Ingelman-Sundberg, M; Carracedo, A; Robledo, M; Llerena, A; ...More
PUBLISHED: 2014, SOURCE: Pharmacogenomics J - The Pharmacogenomics Journal, VOLUME: 15, ISSUE: 3
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TITLE: Neonatal liver failure due to deoxyguanosine kinase deficiency.
AUTHORS: Nobre, S; Grazina, M; Silva, F; Pinto, C; Goncalves, I; Diogo, L;
PUBLISHED: 2012, SOURCE: BMJ case reports, VOLUME: 2012, ISSUE: apr02 1
AUTHORS: Nobre, S; Grazina, M; Silva, F; Pinto, C; Goncalves, I; Diogo, L;
PUBLISHED: 2012, SOURCE: BMJ case reports, VOLUME: 2012, ISSUE: apr02 1
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TITLE: Characterization of muscle biopsies in Mitochondrial respiratory chain disorders Full Text
AUTHORS: Massano, AL; Teotonio, R; Rebelo, O; Grazina, M; Garcia, P; Diogo, L; Macario, MC;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 9-10
AUTHORS: Massano, AL; Teotonio, R; Rebelo, O; Grazina, M; Garcia, P; Diogo, L; Macario, MC;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 9-10
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