Maria Gil Roseira Ribeiro


AuthID: R-002-1GS

Confirmed Publications: 18



11
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
12
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
13
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
14
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
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
15
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
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
16
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID | CIÊNCIAVITAE
17
TITLE: Biochemical characterization of β-hexosaminidase in different biological specimens from eleven patients with GM2-gangliosidosis B1 variant
AUTHORS: Ribeiro, MG ; Pinto, RA; Dos Santos, MR; Maia, M; Sá Miranda, MC;
PUBLISHED: 1991, SOURCE: Journal of Inherited Metabolic Disease - J Inherit Metab Dis, VOLUME: 14, ISSUE: 5
INDEXED IN: CrossRef
IN MY: ORCID | CIÊNCIAVITAE
18
TITLE: Juvenile GM 2 Gangliosidosis Variant B 1 : Clinical and Biochemical Study in Seven Patients
AUTHORS: Maria Maia; Alves, D; Ribeiro, G ; Pinto, R; Sa Miranda, MC;
PUBLISHED: 1990, SOURCE: Neuropediatrics, VOLUME: 21, ISSUE: 01
INDEXED IN: CrossRef
IN MY: CIÊNCIAVITAE
Page 2 of 2. Total results: 18.

footer slogan

Useful Links

Get Help

© 2025 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service