Maria Gil Roseira Ribeiro


AuthID: R-002-1GS

Confirmed Publications: 18



1
TITLE: Dieta mediterrânica e genómica nutricional: potencialidades e desafios
AUTHORS: Ivo Barbedo Faria; Cláudia Silva; Maria Gil Ribeiro ;
PUBLISHED: 2017, SOURCE: Acta Portuguesa de Nutrição, VOLUME: 11
INDEXED IN: CrossRef: 12
IN MY: ORCID | CIÊNCIAVITAE
2
TITLE: Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: Identification of the first large deletion in ASAH1 gene  Full Text
AUTHORS: Mariana Q Alves; Emmanuelle Le Trionnaire; Isaura Ribeiro; Stephane Carpentier; Klaus Harzer; Thierry Levade; Gil Ribeiro, MG ;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 109, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
3
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | ResearcherID | CIÊNCIAVITAE
4
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
5
TITLE: CLN2/TPP1 deficiency: The novel mutation IVS7-10A>G causes intron retention and is associated with a mild disease phenotype  Full Text
AUTHORS: Bessa, C; Teixeira, CA; Dias, A; Alves, M; Rocha, S; Lacerda, L; Loureiro, L; Guimaraes, A; Ribeiro, MG ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
6
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
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | CIÊNCIAVITAE
7
TITLE: Gene expression profiling in vLINCL CLN6-deficient fibroblasts: Insights into pathobiology  Full Text
AUTHORS: Teixeira, CAF; Lin, S; Mangas, M; Quinta, R; Bessa, CJP; Ferreira, C; Sa C S Miranda ; Boustany, RMN; Ribeiro, MG ;
PUBLISHED: 2006, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1762, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
8
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
INDEXED IN: Scopus WOS CrossRef: 31
IN MY: ORCID | CIÊNCIAVITAE
9
TITLE: Two novel CLN5 mutations in a Portuguese patient with vLINCL: Insights into molecular mechanisms of CLN5 deficiency  Full Text
AUTHORS: Bessa, C; Teixeira, CAF; Mangas, M; Dias, A; Sa C S Miranda ; Guimaraes, A; Ferreira, JC; Canas, N; Cabral, P; Ribeiro, MG ;
PUBLISHED: 2006, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 89, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
10
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
INDEXED IN: Scopus WOS CrossRef: 159
IN MY: ORCID | CIÊNCIAVITAE
Page 1 of 2. Total results: 18.

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