Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
21
TITLE: Mitochondrial encephalopathy: First portuguese report of a VARS2 causative variant
AUTHORS: Pereira, S; Adrião, M; Sampaio, M; Basto, MA; Rodrigues, E; Vilarinho, L; Teles, EL; Alonso, I; Leão, M;
PUBLISHED: 2018, SOURCE: JIMD Reports, VOLUME: 42
AUTHORS: Pereira, S; Adrião, M; Sampaio, M; Basto, MA; Rodrigues, E; Vilarinho, L; Teles, EL; Alonso, I; Leão, M;
PUBLISHED: 2018, SOURCE: JIMD Reports, VOLUME: 42
INDEXED IN: 
Scopus
Scopus22
TITLE: Molecular picture of cobalamin C/D defects before and after newborn screening era
AUTHORS: Nogueira, C; Marcao, A; Rocha, H; Sousa, C; Fonseca, H; Valongo, C; Vilarinho, L;
PUBLISHED: 2017, SOURCE: JOURNAL OF MEDICAL SCREENING, VOLUME: 24, ISSUE: 1
AUTHORS: Nogueira, C; Marcao, A; Rocha, H; Sousa, C; Fonseca, H; Valongo, C; Vilarinho, L;
PUBLISHED: 2017, SOURCE: JOURNAL OF MEDICAL SCREENING, VOLUME: 24, ISSUE: 1
INDEXED IN: Scopus 
WOS
Scopus WOS23
TITLE: LPIN1 deficiency: A novel mutation associated with different phenotypes in the same family
AUTHORS: Nunes, D; Nogueira, C; Lopes, A; Chaves, P ; Rodrigues, E; Cardoso, T; Leao L Teles; Vilarinho, L;
PUBLISHED: 2016, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 9
AUTHORS: Nunes, D; Nogueira, C; Lopes, A; Chaves, P ; Rodrigues, E; Cardoso, T; Leao L Teles; Vilarinho, L;
PUBLISHED: 2016, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 9
24
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
25
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
26
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
27
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
28
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
29
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
30
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: WOS 
CrossRef
WOS CrossRef