Maria Gil Roseira Ribeiro
AuthID: R-002-1GS
1
TITLE: Assessment of oxidation compounds in oaked Chardonnay wines: A GC-MS and H-1 NMR metabolomics approach Full Text
AUTHORS: Joana Pinto; Ana Sofia Oliveira; Joana Azevedo; Victor De Freitas ; Paulo Lopes; Isabel Roseira; Miguel Cabral; Paula Guedes de Pinho ;
PUBLISHED: 2018, SOURCE: FOOD CHEMISTRY, VOLUME: 257
AUTHORS: Joana Pinto; Ana Sofia Oliveira; Joana Azevedo; Victor De Freitas ; Paulo Lopes; Isabel Roseira; Miguel Cabral; Paula Guedes de Pinho ;
PUBLISHED: 2018, SOURCE: FOOD CHEMISTRY, VOLUME: 257
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TITLE: Topology and Membrane Anchoring of the Lysosomal Storage Disease-Related Protein CLN5 Full Text
AUTHORS: Heidi Larkin; Maria Gil Ribeiro; Christine Lavoie;
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 12
AUTHORS: Heidi Larkin; Maria Gil Ribeiro; Christine Lavoie;
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 12
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TITLE: The Neuronal Ceroid Lipofuscinosis Protein CLN5: New Insights into Cellular Maturation, Transport, and Consequences of Mutations Full Text
AUTHORS: Mia Lisa Schmiedt; Carlos Bessa ; Claudia Heine; Maria Gil Ribeiro; Anu Jalanko; Aija Kyttala;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 3
AUTHORS: Mia Lisa Schmiedt; Carlos Bessa ; Claudia Heine; Maria Gil Ribeiro; Anu Jalanko; Aija Kyttala;
PUBLISHED: 2010, SOURCE: HUMAN MUTATION, VOLUME: 31, ISSUE: 3
4
TITLE: Molecular analysis of mucopolysaccharidosis type IIIB in Portugal: evidence of a single origin for a common mutation (R234C) in the Iberian Peninsula Full Text
AUTHORS: Mangas, M; Nogueira, C; Prata, MJ ; Lacerda, L; Coll, MJ; Soares, G; Ribeiro, G; Amaral, O; Ferreira, C; Alves, C; Coutinho, MF; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 3
AUTHORS: Mangas, M; Nogueira, C; Prata, MJ ; Lacerda, L; Coll, MJ; Soares, G; Ribeiro, G; Amaral, O; Ferreira, C; Alves, C; Coutinho, MF; Alves, S;
PUBLISHED: 2008, SOURCE: CLINICAL GENETICS, VOLUME: 73, ISSUE: 3
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TITLE: Molecular characterization of Portuguese patients with mucopolysaccharidosis type II shows evidence that the IDS gene is prone to splicing mutations Full Text
AUTHORS: Alves, S; Mangas, M; Prata, MJ ; Ribeiro, G; Lopes, L; Ribeiro, H; Pinto Basto, J; Reis R Lima; Lacerda, L;
PUBLISHED: 2006, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 29, ISSUE: 6
AUTHORS: Alves, S; Mangas, M; Prata, MJ ; Ribeiro, G; Lopes, L; Ribeiro, H; Pinto Basto, J; Reis R Lima; Lacerda, L;
PUBLISHED: 2006, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 29, ISSUE: 6
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TITLE: Prevalence of lysosomal storage diseases in Portugal Full Text
AUTHORS: Pinto, R; Caseiro, C; Lemos, M; Lopes, L; Fontes, A; Ribeiro, H; Pinto, E; Silva, E; Rocha, S; Marcao, A; Ribeiro, I; Lacerda, C; Ribeiro, G; Amaral, O; Miranda, MCS ;
PUBLISHED: 2004, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 12, ISSUE: 2
AUTHORS: Pinto, R; Caseiro, C; Lemos, M; Lopes, L; Fontes, A; Ribeiro, H; Pinto, E; Silva, E; Rocha, S; Marcao, A; Ribeiro, I; Lacerda, C; Ribeiro, G; Amaral, O; Miranda, MCS ;
PUBLISHED: 2004, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 12, ISSUE: 2
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TITLE: Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population Full Text
AUTHORS: Teixeira, C; Guimaraes, A; Bessa, C; Ferreira, MJ; Lopes, L; Pinto, E; Pinto, R; Boustany, RM; Sa Miranda, MC ; Ribeiro, MG;
PUBLISHED: 2003, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 250, ISSUE: 6
AUTHORS: Teixeira, C; Guimaraes, A; Bessa, C; Ferreira, MJ; Lopes, L; Pinto, E; Pinto, R; Boustany, RM; Sa Miranda, MC ; Ribeiro, MG;
PUBLISHED: 2003, SOURCE: JOURNAL OF NEUROLOGY, VOLUME: 250, ISSUE: 6
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TITLE: Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis Full Text
AUTHORS: Teixeira, CA; Espinola, J; Huo, L; Kohlschutter, J; Sawin, DAP; Minassian, B; Bessa, CJP ; Guimaraes, A; Stephan, DA; Miranda, MCS ; MacDonald, ME; Ribeiro, MG; Boustany, RMN;
PUBLISHED: 2003, SOURCE: HUMAN MUTATION, VOLUME: 21, ISSUE: 5
AUTHORS: Teixeira, CA; Espinola, J; Huo, L; Kohlschutter, J; Sawin, DAP; Minassian, B; Bessa, CJP ; Guimaraes, A; Stephan, DA; Miranda, MCS ; MacDonald, ME; Ribeiro, MG; Boustany, RMN;
PUBLISHED: 2003, SOURCE: HUMAN MUTATION, VOLUME: 21, ISSUE: 5
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TITLE: Two novel (1334delC and 1363G to A, G455R) mutations in Exon 12 of the beta-hexosaminidase alpha-chain gene in two Portuguese patients Full Text
AUTHORS: Ribeiro, MG; Pinto, RA; Suzuki, K; Miranda, MCS ;
PUBLISHED: 1997, SOURCE: HUMAN MUTATION, VOLUME: 10, ISSUE: 5
AUTHORS: Ribeiro, MG; Pinto, RA; Suzuki, K; Miranda, MCS ;
PUBLISHED: 1997, SOURCE: HUMAN MUTATION, VOLUME: 10, ISSUE: 5
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TITLE: PRENATAL-DIAGNOSIS OF GM(2)-GANGLIOSIDOSIS B1 VARIANT
AUTHORS: LEMOS, M; PINTO, R; RIBEIRO, G; RIBEIRO, H; LOPES, L; MIRANDA, MCS ;
PUBLISHED: 1995, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 15, ISSUE: 6
AUTHORS: LEMOS, M; PINTO, R; RIBEIRO, G; RIBEIRO, H; LOPES, L; MIRANDA, MCS ;
PUBLISHED: 1995, SOURCE: PRENATAL DIAGNOSIS, VOLUME: 15, ISSUE: 6
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