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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
INDEXED IN: Scopus WOS CrossRef
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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
INDEXED IN: Scopus WOS CrossRef
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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
INDEXED IN: Scopus WOS CrossRef: 39
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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
INDEXED IN: Scopus WOS CrossRef: 2
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TITLE: Identification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndrome
AUTHORS: Nogueira, C; Marques, JS; Nesti, C; Azevedo, L; Di Lullo, M; Meschini, MC; Orlacchio, A; Santorelli, FM; Vilarinho, L;
PUBLISHED: 2013, SOURCE: Molecular Genetics and Metabolism
INDEXED IN: Scopus