Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
21
TITLE: A Novel SUCLA2 Mutation in a Portuguese Child Associated With "Mild" Methylmalonic Aciduria
AUTHORS: Celia Nogueira; Maria Chiara Meschini; Claudia Nesti; Paula Garcia; Luisa Diogo; Carla Valongo; Ricardo Costa; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2015, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 30, ISSUE: 2
AUTHORS: Celia Nogueira; Maria Chiara Meschini; Claudia Nesti; Paula Garcia; Luisa Diogo; Carla Valongo; Ricardo Costa; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2015, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 30, ISSUE: 2
22
TITLE: Syndromes associated with mitochondrial DNA depletion Full Text
AUTHORS: Celia Nogueira; Ligia S Almeida; Claudia Nesti; Ilaria Pezzini; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2014, SOURCE: ITALIAN JOURNAL OF PEDIATRICS, VOLUME: 40, ISSUE: 1
AUTHORS: Celia Nogueira; Ligia S Almeida; Claudia Nesti; Ilaria Pezzini; Arnaldo Videira; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2014, SOURCE: ITALIAN JOURNAL OF PEDIATRICS, VOLUME: 40, ISSUE: 1
23
TITLE: Clinical presentation and outcome in a series of 88 patients with the cblC defect Full Text
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
AUTHORS: Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Guelden Goekcay; Stephanie Gruenewald; Johannes Haeberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins ; Karl O Schwab; Sarah C Gruenert; ...More
PUBLISHED: 2014, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 37, ISSUE: 5
24
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
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
25
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
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
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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
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
27
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
AUTHORS: Celia Nogueira; Paula Garcia; Luisa Diogo; Carla Valongo; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: MITOCHONDRION, VOLUME: 13, ISSUE: 6
INDEXED IN: 
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WOS CrossRef28
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
AUTHORS: Ligia S Almeida; Esmeralda Martins; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2013, SOURCE: MITOCHONDRION, VOLUME: 13, ISSUE: 6
INDEXED IN: WOS CrossRef
WOS CrossRef29
TITLE: Mitochondria proteome profiling: A comparative analysis between gel- and gel-free approaches Full Text
AUTHORS: Rita Ferreira ; Hugo Rocha; Vanessa Almeida; Ana I Padrao; Catia Santa; Laura Vilarinho; Francisco Amado ; Rui Vitorino ;
PUBLISHED: 2013, SOURCE: TALANTA, VOLUME: 115
AUTHORS: Rita Ferreira ; Hugo Rocha; Vanessa Almeida; Ana I Padrao; Catia Santa; Laura Vilarinho; Francisco Amado ; Rui Vitorino ;
PUBLISHED: 2013, SOURCE: TALANTA, VOLUME: 115
30
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
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
