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Maria João Prata Martins Ribeiro
AuthID:
R-000-BXM
Publications
Confirmed
To Validate
Document Source:
All
Document Type:
All Document Types
Article (110)
Proceedings Paper (14)
Abstract (9)
Review (5)
Letter (3)
Note (2)
Book Chapter (2)
Unpublished (1)
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Order:
Year Dsc
Year Asc
Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
Title Asc
Title Dsc
Results:
10
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Confirmed Publications: 146
1
TITLE:
Modeling Lysosomal Storage Disorders in an Innovative Way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidosis Type II Patients
AUTHORS:
Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha;
Marisa Encarnação
; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves; Hugo David; Liliana Matos; Olga Amaral; Luísa Diogo; Sara Ferreira; Constança Santos;
Esmeralda Martins
;
Maria João Prata
;
Luís Pereira de Almeida
; Sandra Alves;
Maria Francisca Coutinho;
...More
PUBLISHED:
2024
,
SOURCE:
International Journal of Molecular Sciences,
VOLUME:
25,
ISSUE:
6
INDEXED IN:
Scopus
CrossRef
IN MY:
ORCID
2
TITLE:
Modelling Lysosomal Storage Disorders in an innovative way: Establishment and Characterization of Stem Cell Lines from Human Exfoliated Deciduous Teeth of Mucopolysaccharidoses Type II Patients
AUTHORS:
Sofia Carvalho; Juliana Inês Santos; Luciana Moreira; Ana Joana Duarte; Paulo Gaspar; Hugo Rocha;
Marisa Encarnação
; Diogo Ribeiro; Matilde Barbosa Almeida; Mariana Gonçalves; Hugo David; Liliana Matos; Olga Amaral; Luísa Diogo; Sara Ferreira; Constança Santos; Esmeralda Martins;
Maria João Prata
; Luís Pereira de Almeida; Sandra Alves;
Maria Francisca Coutinho;
...More
PUBLISHED:
2024
INDEXED IN:
CrossRef
IN MY:
ORCID
3
TITLE:
A partial duplication of an X-linked gene exclusive of a primate lineage (Macaca)
Full Text
AUTHORS:
Serrano, Catarina
;
Lopes Marques, Monica
;
Amorim, Antonio
;
Prata, Maria Joao
;
Azevedo, Luisa
;
PUBLISHED:
2023
,
SOURCE:
GENE,
VOLUME:
851
INDEXED IN:
WOS
CrossRef
4
TITLE:
GENERATION OF MICE EXPRESSING IN THE LIVER HUMAN SPLICING MUTATIONS: A GOOD MODEL TO TEST IN VIVO THE THERAPEUTIC EFFICACY OF MODIFIED U1 SNRNAS FOR MUCOPOLYSACCHARIDOSIS TYPE IIIC
Full Text
AUTHORS:
Goncalves, Mariana; Matos, Liliana; Santos, Juliana I.;
Coutinho, Maria Francisca
;
Prata, Maria Joao
;
Pires, Maria Joao
; Oliveira, Paula; Alves, Sandra;
PUBLISHED:
2023
,
SOURCE:
26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH)
in
MEDICINE,
VOLUME:
102,
ISSUE:
13
INDEXED IN:
WOS
5
TITLE:
WHEN FOLKLORE MEETS SCIENCE: THE 21ST CENTURY BABY TEETH COLLECTOR THAT IS HELPING US SHED LIGHT OVER RARE GENETIC DISORDERS
Full Text
AUTHORS:
Carvalho, Sofia
; Santos, Juliana Ines; Moreira, Luciana; Gaspar, Paulo; Goncalves, Mariana; Matos, Liliana; Encarnacao, Marisa; Ribeiro, Diogo; Duarte, Ana Joana;
Prata, Maria Joao
;
Coutinho, Maria Francisca
; Alves, Sandra;
PUBLISHED:
2023
,
SOURCE:
26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH)
in
MEDICINE,
VOLUME:
102,
ISSUE:
13
INDEXED IN:
WOS
6
TITLE:
Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na(V)1.5)
AUTHORS:
Lopes Marques, Monica
;
Silva, Raquel
;
Serrano, Catarina
;
Gomes, Veronica
;
Cardoso, Ana
;
Prata, Maria Joao
;
Amorim, Antonio
;
Azevedo, Luisa
;
PUBLISHED:
2022
,
SOURCE:
PEERJ,
VOLUME:
10
INDEXED IN:
Scopus
WOS
CrossRef
7
TITLE:
Enzyme Characterization of Pro-virulent SntA, a Cell Wall-Anchored Protein of Streptococcus suis, With Phosphodiesterase Activity on cyclic-di-AMP at a Level Suited to Limit the Innate Immune System
Full Text
AUTHORS:
Cabezas, Alicia; Costas, Maria Jesus; Canales, Jose;
Pinto, Rosa Maria
;
Rodrigues, Joaquim Rui
;
Ribeiro, Joao Meireles
; Cameselle, Jose Carlos;
PUBLISHED:
2022
,
SOURCE:
FRONTIERS IN MICROBIOLOGY,
VOLUME:
13
INDEXED IN:
Scopus
WOS
8
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
9
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
10
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
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