21
TITLE: Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency  Full Text
AUTHORS: Celia Nogueira; Barros, José ; Maria Jose Sa ; Luisa Azevedo ; Ricardo Taipa; Alessandra Torraco; Maria Chiara Meschini; Daniela Verrigni; Claudia Nesti; Teresa Rizza; Joao Teixeira; Rosalba Carrozzo; Manuel Melo Pires ; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2013, SOURCE: NEUROGENETICS, VOLUME: 14, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 40
22
TITLE: Trimethylaminuria (fish odor syndrome): Genotype characterization among Portuguese patients  Full Text
AUTHORS: Filipa Ferreira; Sofia Esteves; Ligia S Almeida; Ana Gaspar; Claudia Dias da Costa; Patricia Janeiro; Anabela Bandeira; Esmeralda Martins ; Elisa Leao Teles; Paula Garcia; Luisa Azevedo ; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: GENE, VOLUME: 527, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 14
23
TITLE: Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome  Full Text
AUTHORS: Celia Nogueira; Jorge Sales Marques; Claudia Nesti; Luisa Azevedo ; Martina Di Lullo; Chiara C Meschini; Antonio Orlacchio; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 110, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 2
24
TITLE: A novel SUCLA2 mutation in a Portuguese patient  Full Text
AUTHORS: Celia Nogueira; Paula Garcia; Luisa Diogo; Carla Valongo; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: MITOCHONDRION, VOLUME: 13, ISSUE: 6
INDEXED IN: WOS CrossRef
25
TITLE: Novel mutation in the mitochondrial transfer RNA(Cys) gene in a child with vomiting and migraine  Full Text
AUTHORS: Ligia S Almeida; Esmeralda Martins; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: MITOCHONDRION, VOLUME: 13, ISSUE: 6
INDEXED IN: WOS CrossRef
27
TITLE: MPV17: Fatal hepatocerebral presentation in a Brazilian infant  Full Text
AUTHORS: Celia Nogueira; Carolina F M de Souza; Antonette Husny; Terry G J Derks; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 107, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
28
TITLE: Identification of a novel TTC19 mutation in a Portuguese family with complex III deficiency  Full Text
AUTHORS: Celia Nogueira; Jose Barros; Maria Jose Sa; Luisa Azevedo ; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2012, SOURCE: MITOCHONDRION, VOLUME: 12, ISSUE: 5
INDEXED IN: WOS CrossRef
29
TITLE: "Double-trouble" or digenic disorder in complex I deficiency  Full Text
AUTHORS: Ligia S Almeida; Mariana Ferreira; Celia Nogueira; Fatima Furtado; Teresinha Evangelista; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2012, SOURCE: MITOCHONDRION, VOLUME: 12, ISSUE: 5
INDEXED IN: WOS CrossRef
30
TITLE: Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila  Full Text
AUTHORS: Ema Alves; Barbara J Henriques ; Joao V Rodrigues ; Pedro Prudencio; Hugo Rocha; Laura Vilarinho; Rui G Martinho ; Claudio M Gomes;
PUBLISHED: 2012, SOURCE: BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, VOLUME: 1822, ISSUE: 8
INDEXED IN: Scopus WOS CrossRef
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