31
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
33
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
34
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
35
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
36
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
37
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
INDEXED IN: Scopus WOS CrossRef
38
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
INDEXED IN: Scopus WOS DBLP CrossRef
39
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
INDEXED IN: WOS CrossRef
40
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
INDEXED IN: WOS CrossRef
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