Maria João Prata Martins Ribeiro


AuthID: R-000-BXM

Confirmed Publications: 149



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TITLE: Hb F Levels in beta-Thalassemia Carriers and Normal Individuals: Known and Unknown Quantitative Trait Loci in the beta-Globin Gene Cluster  Full Text
AUTHORS: Manco, Licinio; Santos, Raquel; Rocha, Catarina; Relvas, Luis; Bento, Celeste; Maia, Tabita; Gomes, Veronica; Amorim, Antonio ; Prata, Maria J. ;
PUBLISHED: 2022, SOURCE: HEMOGLOBIN, VOLUME: 46, ISSUE: 3
INDEXED IN: WOS CrossRef
IN MY: ORCID
12
TITLE: Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example
AUTHORS: Santos, Juliana Ines; Goncalves, Mariana; Matos, Liliana; Moreira, Luciana; Carvalho, Sofia; Prata, Maria Joao ; Coutinho, Maria Francisca; Alves, Sandra;
PUBLISHED: 2022, SOURCE: LIFE-BASEL, VOLUME: 12, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 3
IN MY: ORCID
13
TITLE: Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity  Full Text
AUTHORS: Lopes Marques, M; Pacheco, AR; Peixoto, MJ; Cardoso, AR; Serrano, C; Amorim, Antonio ; Prata, MJ ; Cooper, DN; Azevedo, L ;
PUBLISHED: 2021, SOURCE: HUMAN MUTATION, VOLUME: 42, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
14
TITLE: Compensatory epistasis explored by molecular dynamics simulations  Full Text
AUTHORS: Serrano, C; Teixeira, CSS; Cooper, DN; Carneiro, J; Lopes Marques, M; Stenson, PD; Amorim, Antonio ; Prata, MJ ; Sérgio F. Sousa ; Azevedo, L ;
PUBLISHED: 2021, SOURCE: HUMAN GENETICS, VOLUME: 140, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID
15
TITLE: Evolutionary dynamics of the human pseudoautosomal regions  Full Text
AUTHORS: Monteiro, B; Arenas, M; Prata, MJ ; Amorim, Antonio ;
PUBLISHED: 2021, SOURCE: PLOS GENETICS, VOLUME: 17, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 16
IN MY: ORCID
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TITLE: Insights into the Middle Eastern paternal genetic pool in Tunisia: high prevalence of T-M70 haplogroup in an Arab population
AUTHORS: Elkamel, S; Marques, SL; Alvarez, L; Gomes, V; Boussetta, S; Mourali Chebil, S; Khodjet El Khil, H; Cherni, L; Benammar Elgaaied, A; Prata, MJ ;
PUBLISHED: 2021, SOURCE: SCIENTIFIC REPORTS, VOLUME: 11, ISSUE: 1
INDEXED IN: WOS CrossRef: 2
18
TITLE: Development of an Antisense Oligonucleotide-Mediated Exon Skipping Therapeutic Strategy for Mucolipidosis II: Validation at RNA Level
AUTHORS: Matos, L; Vilela, R; Rocha, M; Santos, JI; Coutinho, MF; Gaspar, P; Prata, MJ ; Alves, S;
PUBLISHED: 2020, SOURCE: HUMAN GENE THERAPY, VOLUME: 31, ISSUE: 13-14
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
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