Maria Manuela Monteiro Grazina
AuthID: R-000-CA1
21
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
22
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
23
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
24
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
25
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
26
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
27
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
28
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
INDEXED IN: 
WOS 
CrossRef
WOS CrossRef29
TITLE: The Brain-Heart Connection in Mitochondrial Respiratory Chain Diseases
AUTHORS: Cordeiro, M; Scaglia, F; Lopes L Da Silva; Garcia, P; Grazina, M; Moura, C; Diogol, L;
PUBLISHED: 2009, SOURCE: The Neuroradiology Journal, VOLUME: 22, ISSUE: 5
AUTHORS: Cordeiro, M; Scaglia, F; Lopes L Da Silva; Garcia, P; Grazina, M; Moura, C; Diogol, L;
PUBLISHED: 2009, SOURCE: The Neuroradiology Journal, VOLUME: 22, ISSUE: 5
30
TITLE: Ocular involvement in mitochondrial disease: biochemical and genetic diversity outline in centre Portugal Full Text
AUTHORS: Grazina, MM; Pratas, J; Simoes, M; Mendes, C; Oliveira, S; Oliveira, M; Macario, C; Diogo, L; Garcia, P; Oliveira, CR;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
AUTHORS: Grazina, MM; Pratas, J; Simoes, M; Mendes, C; Oliveira, S; Oliveira, M; Macario, C; Diogo, L; Garcia, P; Oliveira, CR;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
WOS