Maria João Prata Martins Ribeiro


AuthID: R-000-BXM

Confirmed Publications: 146



31
TITLE: Functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II  Full Text
AUTHORS: Liliana Matos; Vania Goncalves; Eugenia Pinto; Francisco Laranjeira ; Maria Joao Prata ; Peter Jordan; Lourdes R Desviat; Belen Perez; Sandra Alves;
PUBLISHED: 2015, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1852, ISSUE: 12
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID
32
TITLE: Mirandese language and genetic differentiation in Iberia: a study using X chromosome markers
AUTHORS: Pinto, JC; Pereira, V; Marques, SL; Amorim, Antonio ; Alvarez, L; Prata, MJ ;
PUBLISHED: 2015, SOURCE: ANNALS OF HUMAN BIOLOGY, VOLUME: 42, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
33
34
TITLE: Mosaic maternal ancestry in the Great Lakes region of East Africa
AUTHORS: Gomes, V; Pala, M; Salas, A; Alvarez Iglesias, V; Amorim, Antonio ; Gomez Carballa, A; Carracedo, A; Clarke, DJ; Hill, C; Mormina, M; Shaw, MA; Dunne, DW; Pereira, R; Pereira, V; Prata, MJ ; Sanchez Diz, P; Rito, T; Soares, P; Gusmao, L; Richards, MB;
PUBLISHED: 2015, SOURCE: HUMAN GENETICS, VOLUME: 134, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef Handle
IN MY: ORCID
35
TITLE: Pharmacogenetic polymorphisms in a portuguese gypsy population
AUTHORS: Teixeira, J; Amorim, Antonio ; Prata, MJ ; Quental, S;
PUBLISHED: 2015, SOURCE: Current Pharmacogenomics and Personalized Medicine, VOLUME: 13, ISSUE: 1
INDEXED IN: Scopus CrossRef: 2
36
TITLE: Portuguese mitochondrial DNA genetic diversity-An update and a phylogenetic revision
AUTHORS: Sofia L Marques; Ana Goios; Ana M Rocha; Maria Joao Prata ; Amorim, Antonio ; Leonor Gusmao; Cintia Alves; Luis Alvarez;
PUBLISHED: 2015, SOURCE: FORENSIC SCIENCE INTERNATIONAL-GENETICS, VOLUME: 15
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID
37
TITLE: The peopling of Greenland: further insights from the analysis of genetic diversity using autosomal and X-chromosomal markers
AUTHORS: Vania Pereira; Carmen Tomas; Juan J Sanchez; Denise Syndercombe Court; Amorim, Antonio ; Leonor Gusmao; Maria Joao Prata ; Niels Morling;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 13
IN MY: ORCID
38
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
39
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
40
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
Page 4 of 15. Total results: 146.

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