Laura Ferreira Teixeira Vilarinho
AuthID: R-002-GKT
51
TITLE: Pediatric Mitochondrial Respiratory Chain Disorders in the Centro Region of Portugal Full Text
AUTHORS: Luisa Diogo; Manuela Grazina ; Paula Garcia; Olinda Rebelo; Margarida Alte Veiga; Juan Cuevas; Laura Vilarinho; Isabel Tavares de Almeida ; Catarina Resende Oliveira ;
PUBLISHED: 2009, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 40, ISSUE: 5
AUTHORS: Luisa Diogo; Manuela Grazina ; Paula Garcia; Olinda Rebelo; Margarida Alte Veiga; Juan Cuevas; Laura Vilarinho; Isabel Tavares de Almeida ; Catarina Resende Oliveira ;
PUBLISHED: 2009, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 40, ISSUE: 5
52
TITLE: De Barsy syndrome and ATP6V0A2-CDG Full Text
AUTHORS: Elisa Leao-Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 5
AUTHORS: Elisa Leao-Teles; Dulce Quelhas; Laura Vilarinho; Jaak Jaeken;
PUBLISHED: 2009, SOURCE: Eur J Hum Genet - European Journal of Human Genetics, VOLUME: 18, ISSUE: 5
INDEXED IN: 
CrossRef
CrossRef53
TITLE: Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination Full Text
AUTHORS: Quental, S ; Martins, E ; Vilarinho, L; Amorim, Antonio ; Joao Prata, MJ ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
AUTHORS: Quental, S ; Martins, E ; Vilarinho, L; Amorim, Antonio ; Joao Prata, MJ ;
PUBLISHED: 2008, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 31, ISSUE: S2
54
TITLE: Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community Full Text
AUTHORS: Sofia Quental ; Sandra Macedo Ribeiro ; Raquel Matos; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Fatima Furtado; Isabel Lanca; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 2
AUTHORS: Sofia Quental ; Sandra Macedo Ribeiro ; Raquel Matos; Laura Vilarinho; Esmeralda Martins ; Elisa Leao Teles; Esmeralda Rodrigues; Luisa Diogo; Paula Garcia; Filomena Eusebio; Ana Gaspar; Silvia Sequeira; Fatima Furtado; Isabel Lanca; Amorim, Antonio ; Maria Joao Prata ;
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 94, ISSUE: 2
55
TITLE: Outcome of three cases of untreated maternal glutaric aciduria type I Full Text
AUTHORS: Paula Garcia; Esmeralda Martins ; Luisa Diogo; Hugo Rocha; Ana Marcao; Eurico Gaspar; Margarida Almeida; Catarina Vaz; Isabel Soares; Clara Barbot ; Laura Vilarinho;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 167, ISSUE: 5
AUTHORS: Paula Garcia; Esmeralda Martins ; Luisa Diogo; Hugo Rocha; Ana Marcao; Eurico Gaspar; Margarida Almeida; Catarina Vaz; Isabel Soares; Clara Barbot ; Laura Vilarinho;
PUBLISHED: 2008, SOURCE: EUROPEAN JOURNAL OF PEDIATRICS, VOLUME: 167, ISSUE: 5
56
TITLE: Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type Full Text
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
AUTHORS: Celia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins ; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luisa Diogo; Elisa Leao; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot ; Silvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; ...More
PUBLISHED: 2008, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 93, ISSUE: 4
57
TITLE: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2 Full Text
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
AUTHORS: Uwe Kornak; Ellen Reynders; Aikaterini Dimopoulou; Jeroen van Reeuwijk; Bjoern Fischer; Anna Rajab; Birgit Budde; Peter Nürnberg; Francois Foulquier; William B Dobyns; Dulce Quelhas; Laura Vilarinho; Elisa Leao-Teles; Marie Greally; Eva Seemanova; Martina Simandlova; Mustafa Salih; Arti Nanda; Lina Basel-Vanagaite; Hulya Kayserili; ...More
PUBLISHED: 2008, SOURCE: Nature Genetics, VOLUME: 40, ISSUE: 1
INDEXED IN: 
Scopus CrossRef
Scopus CrossRef58
TITLE: A new mtDNA-tRNA(Glu) mutation (14728T > C) presenting a late-onset mitochondrial encephalomyopathy Full Text
AUTHORS: Celia Nogueira; Joao Nunes; Teresinha Evangelista; Fabiana Fattori; Alessandra Tessa; Cristina Pereira; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: MITOCHONDRION, VOLUME: 7, ISSUE: 6
AUTHORS: Celia Nogueira; Joao Nunes; Teresinha Evangelista; Fabiana Fattori; Alessandra Tessa; Cristina Pereira; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: MITOCHONDRION, VOLUME: 7, ISSUE: 6
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TITLE: Congenital disorder of glycosylation type Ia: Searching for the origin of common mutations in PMM2. Origin(s) of PMM2 Gene Mutations Full Text
AUTHORS: Quelhas, D; Quental, R; Vilarinho, L; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2007, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 71, ISSUE: 3
AUTHORS: Quelhas, D; Quental, R; Vilarinho, L; Amorim, Antonio ; Azevedo, L ;
PUBLISHED: 2007, SOURCE: ANNALS OF HUMAN GENETICS, VOLUME: 71, ISSUE: 3
60
TITLE: Identification of a new mtDNA mutation (14724G > A) associated with mitochondrial leukoencephalopathy Full Text
AUTHORS: Cristina Pereira; Celia Nogueira; Clara Barbot ; Alessandra Tessa; Carla Soares; Fabiana Fattori; Antonio Guimaraes; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 354, ISSUE: 4
AUTHORS: Cristina Pereira; Celia Nogueira; Clara Barbot ; Alessandra Tessa; Carla Soares; Fabiana Fattori; Antonio Guimaraes; Filippo M Santorelli; Laura Vilarinho;
PUBLISHED: 2007, SOURCE: BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, VOLUME: 354, ISSUE: 4
