Luísa Cristina da Costa Azevedo


AuthID: R-000-9VD

Confirmed Publications: 63



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TITLE: Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations  Full Text
AUTHORS: Mariana Ferreira; Teresinha Evangelista; Ligia S Almeida; Joao Martins; Maria Carmo Macario; Esmeralda Martins ; Ana Moleirinho; Luisa Azevedo ; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2011, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 15
IN MY: ORCID | ResearcherID
43
TITLE: Comparative analyses of the Conserved Oligomeric Golgi (COG) complex in vertebrates  Full Text
AUTHORS: Rita Quental; Luisa Azevedo ; Rune Matthiesen ; Amorim, Antonio ;
PUBLISHED: 2010, SOURCE: BMC EVOLUTIONARY BIOLOGY, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 8
IN MY: ORCID
44
TITLE: Evolutionary History and Functional Diversification of Phosphomannomutase Genes  Full Text
AUTHORS: Rita Quental; Ana Moleirinho; Luisa Azevedo ; Amorim, Antonio ;
PUBLISHED: 2010, SOURCE: JOURNAL OF MOLECULAR EVOLUTION, VOLUME: 71, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 11
IN MY: ORCID | ResearcherID
45
TITLE: Identification of novel L2HGDH gene mutations and update of the pathological spectrum  Full Text
AUTHORS: Laura Vilarinho; Sandra Tafulo; Michelina Sibilio; Fernando Kok; Federica Fontana; Luisa Diogo; Margarida Venancio; Mariana Ferreira; Celia Nogueira; Carla Valongo; Giancarlo Parenti; Amorim, Antonio ; Luisa Azevedo ;
PUBLISHED: 2010, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 55, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 6
IN MY: ORCID | ResearcherID
46
TITLE: Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)  Full Text
AUTHORS: Teresa Almeida; Isabel Alonso ; Sandra Martins ; Eliana Marisa Ramos; Luisa Azevedo ; Kinji Ohno; Amorim, Antonio ; Maria Luiza Saraiva Pereira; Laura Bannach Jardim; Tohru Matsuura; Jorge Sequeiros ; Isabel Silveira ;
PUBLISHED: 2009, SOURCE: PLOS ONE, VOLUME: 4, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 37
IN MY: ORCID | ResearcherID
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TITLE: Molecular mechanisms underlying large genomic deletions in ornithine transcarbamylase (OTC) gene  Full Text
AUTHORS: Quental, R; Azevedo, L ; Rubio, V; Diogo, L; Amorim, Antonio ;
PUBLISHED: 2009, SOURCE: CLINICAL GENETICS, VOLUME: 75, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 22
IN MY: ORCID | ResearcherID
49
TITLE: GTP cyclohydrolase deficiency: Report of a family with atypical clinical features  Full Text
AUTHORS: Duarte, S; Calado, E; Nogueira, C; Gaspar, P; Azevedo, L ; Vilarinho, L;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
50
TITLE: Late onset carbamoylphosphate synthetase deficiency  Full Text
AUTHORS: Ferreira, AC; Moco, C; Quental, R; Azevedo, L ; Sequeira, S;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31
INDEXED IN: WOS
Página 5 de 7. Total de resultados: 63.

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