Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
31
TITLE: Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening Full Text
AUTHORS: Laura Vilarinho; Jorge Sales Marques; Hugo Rocha; Altina Ramos; Lurdes Lopes; Srinivas B Narayan; Michael J Bennett;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 106, ISSUE: 3
AUTHORS: Laura Vilarinho; Jorge Sales Marques; Hugo Rocha; Altina Ramos; Lurdes Lopes; Srinivas B Narayan; Michael J Bennett;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 106, ISSUE: 3
32
TITLE: A Rare Disease Patient Manager
AUTHORS: Pedro Lopes ; Rafael Mendonca; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosario Santos; Jose Luis Oliveira ;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology and Bioinformatics (PACBB) in 6TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS, VOLUME: 154
AUTHORS: Pedro Lopes ; Rafael Mendonca; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosario Santos; Jose Luis Oliveira ;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology and Bioinformatics (PACBB) in 6TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS, VOLUME: 154
33
TITLE: Adult onset intermittent rhabdomyolysis Full Text
AUTHORS: Antunes, AP; Nogueira, C; Rocha, H; Vilarinho, L; Evangelista, T;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 9-10
AUTHORS: Antunes, AP; Nogueira, C; Rocha, H; Vilarinho, L; Evangelista, T;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 9-10
INDEXED IN: 
WOS 
CrossRef
WOS CrossRef34
TITLE: Effect of morbid obesity in skeletal muscle and its association with insulin resistance Full Text
AUTHORS: Silvestre, AR; Machado, M; Vilarinho, L; Cortez Pinto, H; Evangelista, T;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 9-10
AUTHORS: Silvestre, AR; Machado, M; Vilarinho, L; Cortez Pinto, H; Evangelista, T;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 9-10
INDEXED IN: WOS CrossRef
WOS CrossRef35
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
36
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
37
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
38
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
39
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
40
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
