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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Unpublished (1)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
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Cit. WOS Dsc
IF WOS Dsc
Cit. Scopus Dsc
IF Scopus Dsc
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Results:
10
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Confirmed Publications: 146
11
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
12
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
13
TITLE:
Genetic Variability of the Functional Domains of Chromodomains Helicase DNA-Binding (CHD) Proteins
Full Text
AUTHORS:
Cardoso, AR
;
Lopes Marques, M
;
Oliveira, M
;
Amorim, Antonio
;
Prata, MJ
;
Azevedo, L
;
PUBLISHED:
2021
,
SOURCE:
GENES,
VOLUME:
12,
ISSUE:
11
INDEXED IN:
Scopus
WOS
CrossRef
:
4
IN MY:
ORCID
14
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
15
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
16
TITLE:
GBA3: a polymorphic pseudogene in humans that experienced repeated gene loss during mammalian evolution
Full Text
AUTHORS:
Monica Lopes Marques
;
Catarina Serrano
;
Ana R Cardoso
; Renato Salazar;
Susana Seixas
;
Amorim, Antonio
;
Luisa Azevedo
;
Maria J Prata
;
PUBLISHED:
2020
,
SOURCE:
SCIENTIFIC REPORTS,
VOLUME:
10,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
1
IN MY:
ORCID
17
TITLE:
Lysosomal Storage Disease-Associated Neuropathy: Targeting Stable Nucleic Acid Lipid Particle (SNALP)-Formulated siRNAs to the Brain as a Therapeutic Approach
Full Text
AUTHORS:
Coutinho, MF
; Santos, JI;
Mendonca, LS
;
Matos, L
;
Prata, MJ
;
Jurado, AS
;
de Lima, MCP
;
Alves, S
;
PUBLISHED:
2020
,
SOURCE:
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES,
VOLUME:
21,
ISSUE:
16
INDEXED IN:
Scopus
WOS
CrossRef
:
3
IN MY:
ORCID
18
TITLE:
Molecular Characterization of a Novel Splicing Mutation Underlying Mucopolysaccharidosis (MPS) Type VI-Indirect Proof of Principle on Its Pathogenicity
Full Text
AUTHORS:
Coutinho, MF
;
Encarnacao, M
;
Matos, L
; Silva, L;
Ribeiro, D
; Santos, JI;
Prata, MJ
;
Vilarinho, L
;
Alves, S
;
PUBLISHED:
2020
,
SOURCE:
DIAGNOSTICS,
VOLUME:
10,
ISSUE:
2
INDEXED IN:
Scopus
WOS
CrossRef
:
4
IN MY:
ORCID
19
TITLE:
Essential genetic findings in neurodevelopmental disorders
Full Text
AUTHORS:
Ana R Cardoso
;
Monica Lopes Marques
;
Raquel M Silva
;
Catarina Serrano
;
Amorim, Antonio
;
Maria J Prata
;
Luisa Azevedo
;
PUBLISHED:
2019
,
SOURCE:
HUMAN GENOMICS,
VOLUME:
13,
ISSUE:
1
INDEXED IN:
Scopus
WOS
CrossRef
:
38
20
TITLE:
European Roma groups show complex West Eurasian admixture footprints and a common South Asian genetic origin
AUTHORS:
Font Porterias, N; Arauna, LR; Poveda, A; Bianco, E; Rebato, E;
Prata, MJ
; Calafell, F; Comas, D;
PUBLISHED:
2019
,
SOURCE:
PLOS GENETICS,
VOLUME:
15,
ISSUE:
9
INDEXED IN:
WOS
CrossRef
:
28
IN MY:
ORCID
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