Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
41
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
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
42
TITLE: Identification and Functional Analyses of CBS Alleles in Spanish and Argentinian Homocystinuric Patients Full Text
AUTHORS: Monica Cozar; Roser Urreizti; Laura Vilarinho; Carola Grosso; Raquel D Dodelson de Kremer; Carla G Asteggiano; Jaime Dalmau; Ana M Maria Garcia; Maria A Antonia Vilaseca; Daniel Grinberg; Susana Balcells;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 7
AUTHORS: Monica Cozar; Roser Urreizti; Laura Vilarinho; Carola Grosso; Raquel D Dodelson de Kremer; Carla G Asteggiano; Jaime Dalmau; Ana M Maria Garcia; Maria A Antonia Vilaseca; Daniel Grinberg; Susana Balcells;
PUBLISHED: 2011, SOURCE: HUMAN MUTATION, VOLUME: 32, ISSUE: 7
43
TITLE: Infantile-Onset Disorders of Mitochondrial Replication and Protein Synthesis
AUTHORS: Celia Nogueira; Rosalba Carrozzo; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2011, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 26, ISSUE: 7
AUTHORS: Celia Nogueira; Rosalba Carrozzo; Laura Vilarinho; Filippo M Santorelli;
PUBLISHED: 2011, SOURCE: JOURNAL OF CHILD NEUROLOGY, VOLUME: 26, ISSUE: 7
44
TITLE: Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new cases Full Text
AUTHORS: Esmeralda Martins ; Luis Cardoso, ML; Esmeralda Rodrigues; Clara Barbot ; Altina Ramos; Michael J Bennett; Elisa Leao Teles; Laura Vilarinho;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34, ISSUE: 3
AUTHORS: Esmeralda Martins ; Luis Cardoso, ML; Esmeralda Rodrigues; Clara Barbot ; Altina Ramos; Michael J Bennett; Elisa Leao Teles; Laura Vilarinho;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34, ISSUE: 3
45
TITLE: Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1 Full Text
AUTHORS: Mariana Ferreira; Alessandra Torraco; Teresa Rizza; Fabiana Fattori; Maria Chiara Meschini; Cinzia Castana; Nancy E Go; Frank E Nargang; Margarida Duarte ; Fiorella Piemonte; Carlo Dionisi Vici; Arnaldo Videira ; Laura Vilarinho; Filippo M Santorelli; Rosalba Carrozzo; Enrico Bertini;
PUBLISHED: 2011, SOURCE: NEUROGENETICS, VOLUME: 12, ISSUE: 1
AUTHORS: Mariana Ferreira; Alessandra Torraco; Teresa Rizza; Fabiana Fattori; Maria Chiara Meschini; Cinzia Castana; Nancy E Go; Frank E Nargang; Margarida Duarte ; Fiorella Piemonte; Carlo Dionisi Vici; Arnaldo Videira ; Laura Vilarinho; Filippo M Santorelli; Rosalba Carrozzo; Enrico Bertini;
PUBLISHED: 2011, SOURCE: NEUROGENETICS, VOLUME: 12, ISSUE: 1
46
TITLE: Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database Full Text
AUTHORS: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons;
PUBLISHED: 2011, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, ISSUE: 1
AUTHORS: Ofir T Betsalel; Efraim H Rosenberg; Ligia S Almeida; Tjitske Kleefstra; Charles E Schwartz; Vassili Valayannopoulos; Omar Abdul Rahman; Nicola Poplawski; Laura Vilarinho; Philipp Wolf; Johan T den Dunnen; Cornelis Jakobs; Gajja S Salomons;
PUBLISHED: 2011, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 19, ISSUE: 1
47
TITLE: <i>PAH</i> mutational spectrum: still expanding Full Text
AUTHORS: Laura Vilarinho; Sofia Esteves; Elisabete Ramos ; António Amorim; Luisa Azevedo;
PUBLISHED: 2011, SOURCE: Open Journal of Genetics, VOLUME: 01, ISSUE: 02
AUTHORS: Laura Vilarinho; Sofia Esteves; Elisabete Ramos ; António Amorim; Luisa Azevedo;
PUBLISHED: 2011, SOURCE: Open Journal of Genetics, VOLUME: 01, ISSUE: 02
48
TITLE: Incidence of maple syrup urine disease in Portugal Full Text
AUTHORS: Sofia Quental ; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2010, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 100, ISSUE: 4
AUTHORS: Sofia Quental ; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2010, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 100, ISSUE: 4
49
TITLE: De Barsy syndrome and ATP6V0A2-CDG Full Text
AUTHORS: Elisa Leao Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
AUTHORS: Elisa Leao Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2010, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 18, ISSUE: 5
INDEXED IN: 
Scopus 
WOS
Scopus WOS50
TITLE: Cardiomyopathy and Kidney Disease in a Patient with Maternally Inherited Diabetes and Deafness Caused by the 3243A > G Mutation of Mitochondrial DNA
AUTHORS: Olga Azevedo; Laura Vilarinho; Filipa Almeida; Francisco Ferreira; Joana Guardado; Mariana Ferreira; Antonio Lourenco; Rosa Medeiros; Joao Almeida;
PUBLISHED: 2010, SOURCE: CARDIOLOGY, VOLUME: 115, ISSUE: 1
AUTHORS: Olga Azevedo; Laura Vilarinho; Filipa Almeida; Francisco Ferreira; Joana Guardado; Mariana Ferreira; Antonio Lourenco; Rosa Medeiros; Joao Almeida;
PUBLISHED: 2010, SOURCE: CARDIOLOGY, VOLUME: 115, ISSUE: 1
