Maria Gil Roseira Ribeiro
AuthID: R-002-1GS
11
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
12
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
13
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
14
TITLE: Retrovirus-mediated transfer and expression of beta-hexosaminidase alpha-chain cDNA in human fibroblasts from G(M2)-gangliosidosis B1 variant
AUTHORS: Teixeira, CA; Sena Esteves, M; Lopes, L; Miranda, MCS ; Ribeiro, MG;
PUBLISHED: 2001, SOURCE: HUMAN GENE THERAPY, VOLUME: 12, ISSUE: 14
AUTHORS: Teixeira, CA; Sena Esteves, M; Lopes, L; Miranda, MCS ; Ribeiro, MG;
PUBLISHED: 2001, SOURCE: HUMAN GENE THERAPY, VOLUME: 12, ISSUE: 14
15
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
16
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
INDEXED IN: 
Scopus 
WOS
Scopus WOS17
TITLE: TAY-SACHS-DISEASE - INTRON-7 SPLICE JUNCTION MUTATION IN 2 PORTUGUESE PATIENTS Full Text
AUTHORS: RIBEIRO, MG; PINTO, R; MIRANDA, MCS ; SUZUKI, K;
PUBLISHED: 1995, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1270, ISSUE: 1
AUTHORS: RIBEIRO, MG; PINTO, R; MIRANDA, MCS ; SUZUKI, K;
PUBLISHED: 1995, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1270, ISSUE: 1
INDEXED IN: Scopus WOS
Scopus WOS18
TITLE: Prenatal diagnosis of GM2-gangliosidosis B1 variant
AUTHORS: Lemos, M; Pinto, R; Ribeiro, G; Ribeiro, H; Lopes, L; Sá C S Miranda;
PUBLISHED: 1995, SOURCE: Prenatal Diagnosis - Prenat. Diagn., VOLUME: 15, ISSUE: 6
AUTHORS: Lemos, M; Pinto, R; Ribeiro, G; Ribeiro, H; Lopes, L; Sá C S Miranda;
PUBLISHED: 1995, SOURCE: Prenatal Diagnosis - Prenat. Diagn., VOLUME: 15, ISSUE: 6
19
TITLE: Tay-Sachs disease: Intron 7 splice junction mutation in two Portuguese patients Full Text
AUTHORS: Maria G Ribeiro; Rui Pinto; Maria C Sa Miranda; Kunihiko Suzuki;
PUBLISHED: 1995, SOURCE: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, VOLUME: 1270, ISSUE: 1
AUTHORS: Maria G Ribeiro; Rui Pinto; Maria C Sa Miranda; Kunihiko Suzuki;
PUBLISHED: 1995, SOURCE: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, VOLUME: 1270, ISSUE: 1
20
TITLE: IDENTIFICATION OF GM2-GANGLIOSIDOSIS B1 VARIANT CARRIERS
AUTHORS: RIBEIRO, MG; PINTO, R; OLIVEIRA, P ; MIRANDA, MCS ;
PUBLISHED: 1993, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 16, ISSUE: 6
AUTHORS: RIBEIRO, MG; PINTO, R; OLIVEIRA, P ; MIRANDA, MCS ;
PUBLISHED: 1993, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 16, ISSUE: 6
