Maria João Prata Martins Ribeiro


AuthID: R-000-BXM

Confirmed Publications: 149



51
TITLE: A shortcut to the lysosome: The mannose-6-phosphate-independent pathway  Full Text
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 107, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 81
IN MY: ORCID | ResearcherID
52
TITLE: Alu-Alu recombination underlying the first large genomic deletion in GlcNAc-phosphotransferase alpha/beta (GNPTAB) gene in a MLII alpha/beta patient
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Lúcia Lacerda; Sofia Quental; Flemming Wibrand; Allan M Lund; Klaus B Johansen; Maria João Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: JIMD Reports, VOLUME: 4
INDEXED IN: Scopus CrossRef
IN MY: ORCID
53
TITLE: Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients  Full Text
AUTHORS: Coutinho, MF; Lacerda, L; Macedo Ribeiro, S ; Baptista, E; Ribeiro, H; Prata, MJ ; Alves, S;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | ResearcherID
54
TITLE: Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction  Full Text
AUTHORS: Maria Francisca Coutinho; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 105, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 169
IN MY: ORCID | ResearcherID
55
TITLE: Mucolipidosis type II a/ss with a homozygous missense mutation in the GNPTAB gene  Full Text
AUTHORS: Maria Francisca Coutinho; Liliana da Silva Santos; Katta Mohan Girisha; Kapaettu Satyamoorthy; Lucia Lacerda; Maria Joao Prata ; Sandra Alves;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 158A, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 10
IN MY: ORCID | ResearcherID
56
TITLE: Refining the genetic portrait of Portuguese Roma through X-chromosomal markers  Full Text
AUTHORS: Vania Pereira; Leonor Gusmao ; Cristina Valente; Rui Pereira ; Joao Carneiro ; Iva Gomes; Niels Morling; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2012, SOURCE: AMERICAN JOURNAL OF PHYSICAL ANTHROPOLOGY, VOLUME: 148, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID | ResearcherID
57
TITLE: Genetic characterization of Somali and Iraqi populations using a set of 33 X-chromosome Indels  Full Text
AUTHORS: Pereira, V; Moncada, E; Diez, IE; Tomas, C; Amorim, Antonio ; Morling, N; Gusmao, L ; Prata, MJ ;
PUBLISHED: 2011, SOURCE: Forensic Science International: Genetics Supplement Series, VOLUME: 3, ISSUE: 1
INDEXED IN: Scopus CrossRef: 3
IN MY: ORCID
58
TITLE: Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity  Full Text
AUTHORS: Coutinho, MF; Encarnacao, M; Gomes, R; da Silva Santos, LDS; Martins, S ; Sirois Gagnon, D; Bargal, R; Filocamo, M; Raas Rothschild, A; Tappino, B; Laprise, C; Cury, GK; Schwartz, IV; Artigalas, O; Prata, MJ ; Alves, S;
PUBLISHED: 2011, SOURCE: CLINICAL GENETICS, VOLUME: 80, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 14
IN MY: ORCID | ResearcherID
59
TITLE: Reconstructing the Indian Origin and Dispersal of the European Roma: A Maternal Genetic Perspective  Full Text
AUTHORS: Isabel Mendizabal; Cristina Valente; Alfredo Gusmao; Cintia Alves; Veronica Gomes ; Ana Goios ; Walther Parson; Francesc Calafell; Luis Alvarez ; Amorim, Antonio ; Leonor Gusmao ; David Comas; Maria J Joao Prata ;
PUBLISHED: 2011, SOURCE: PLOS ONE, VOLUME: 6, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 59
IN MY: ORCID | ResearcherID
60
TITLE: Study of 25 X-chromosome Single Nucleotide Polymorphisms in African and Asian populations  Full Text
AUTHORS: Pereira, V; Tomas, C; Sanchez, JJ; Amorim, Antonio ; Gusmao, L ; Prata, MJ ; Morling, N;
PUBLISHED: 2011, SOURCE: Forensic Science International: Genetics Supplement Series, VOLUME: 3, ISSUE: 1
INDEXED IN: Scopus CrossRef: 1
IN MY: ORCID
Page 6 of 15. Total results: 149.

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