Maria João Prata Martins Ribeiro


AuthID: R-000-BXM

Confirmed Publications: 149



41
TITLE: Mucolipidosis II-Related Mutations Inhibit the Exit from the Endoplasmic Reticulum and Proteolytic Cleavage of GlcNAc-1-Phosphotransferase Precursor Protein (GNPTAB)  Full Text
AUTHORS: Raffaella De Pace; Maria Francisca Coutinho; Friedrich Koch Nolte; Friedrich Haag; Maria Joao Prata ; Sandra Alves; Thomas Braulke; Sandra Pohl;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 20
IN MY: ORCID
42
TITLE: Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation  Full Text
AUTHORS: Shagun Aggarwal; Maria Francisca Coutinho; Ashwin B Dalal; Jamal Mohamed Nurul N Jain; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2014, SOURCE: GENE, VOLUME: 542, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
43
TITLE: Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations  Full Text
AUTHORS: Liliana Matos; Isaac Canals; Larbi Dridi; Yoo Choi; Maria J Joo Prata ; Peter Jordan; Lourdes R Desviat; Beln Prez; Alexey V Pshezhetsky; Daniel Grinberg; Sandra Alves; Llusa Vilageliu;
PUBLISHED: 2014, SOURCE: ORPHANET JOURNAL OF RARE DISEASES, VOLUME: 9, ISSUE: 1
INDEXED IN: WOS CrossRef: 37
IN MY: ORCID
44
TITLE: Assessing the potential application of X-chromosomal haploblocks in population genetics and forensic studies  Full Text
AUTHORS: Pereira, V; Tomas, C; Pietroni, C; Andersen, JD; Fordyce, SL; Pinto, N ; Mikkelsen, M; Borsting, C; Amorim, Antonio ; Gusmao, L ; Prata, MJ ; Morling, N;
PUBLISHED: 2013, SOURCE: Forensic Science International: Genetics Supplement Series, VOLUME: 4, ISSUE: 1
INDEXED IN: Scopus CrossRef: 1
IN MY: ORCID
45
46
TITLE: Linguistic isolates in Portugal: Insights from the mitochondrial DNA pattern
AUTHORS: Quim Mairal; Cristina Santos; Marina Silva; Sofia L Marques; Amanda Ramos; Maria P Pilar Aluja; Amorim, Antonio ; Maria Joao Prata ; Luis Alvarez ;
PUBLISHED: 2013, SOURCE: FORENSIC SCIENCE INTERNATIONAL-GENETICS, VOLUME: 7, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
47
TITLE: Molecular characterization of maple syrup urine disease patients from Tunisia  Full Text
AUTHORS: Jaafar, N; Moleirinho, A; Kerkeni, E; Monastiri, K; Seboui, H; Amorim, Antonio ; Prata, MJ ; Quental, S ;
PUBLISHED: 2013, SOURCE: GENE, VOLUME: 517, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | ResearcherID
48
TITLE: Sortilin and the risk of cardiovascular disease
AUTHORS: Maria Francisca Coutinho; Mafalda Bourbon ; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2013, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 32, ISSUE: 10
INDEXED IN: Scopus WOS
IN MY: ORCID
49
TITLE: Sortilina e risco de doença cardiovascular
AUTHORS: Maria Francisca Coutinho; Mafalda Bourbon; Maria João Prata ; Sandra Alves;
PUBLISHED: 2013, SOURCE: Revista Portuguesa de Cardiologia, VOLUME: 32, ISSUE: 10
INDEXED IN: CrossRef: 5
IN MY: ORCID
50
TITLE: A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR  Full Text
AUTHORS: Rui Pereira ; Vania Pereira; Iva Gomes; Carmen Tomas; Niels Morling; Amorim, Antonio ; Maria Joao Prata ; Angel Carracedo; Leonor Gusmao ;
PUBLISHED: 2012, SOURCE: INTERNATIONAL JOURNAL OF LEGAL MEDICINE, VOLUME: 126, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 40
IN MY: ORCID | ResearcherID
Page 5 of 15. Total results: 149.

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