Ana Sofia Temudo Duarte António
AuthID: R-000-X91
11
TITLE: Atypical phenotype in two patients with LAMA2 mutations Full Text
AUTHORS: Joana Marques; Sofia T Duarte; Sonia Costa; Sandra Jacinto; Jorge Oliveira; Marcia E Oliveira; Rosario Santos; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Ana Rita Silvestre; Eulalia Calado; Teresinha Evangelista;
PUBLISHED: 2014, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 24, ISSUE: 5
AUTHORS: Joana Marques; Sofia T Duarte; Sonia Costa; Sandra Jacinto; Jorge Oliveira; Marcia E Oliveira; Rosario Santos; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Ana Rita Silvestre; Eulalia Calado; Teresinha Evangelista;
PUBLISHED: 2014, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 24, ISSUE: 5
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TITLE: Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome Full Text
AUTHORS: Sofia T Temudo Duarte; Judith Armstrong; Ana Roche; Carlos Ortez; Ana Perez; Maria D del Mar O'Callaghan; Antonina Pereira; Francesc Sanmarti; Aida Ormazabal; Rafael Artuch; Mercedes Pineda; Angels Garcia Cazorla;
PUBLISHED: 2013, SOURCE: PLOS ONE, VOLUME: 8, ISSUE: 7
AUTHORS: Sofia T Temudo Duarte; Judith Armstrong; Ana Roche; Carlos Ortez; Ana Perez; Maria D del Mar O'Callaghan; Antonina Pereira; Francesc Sanmarti; Aida Ormazabal; Rafael Artuch; Mercedes Pineda; Angels Garcia Cazorla;
PUBLISHED: 2013, SOURCE: PLOS ONE, VOLUME: 8, ISSUE: 7
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TITLE: DOMINANT AND RECESSIVE RYR1 MUTATIONS IN ADULTS WITH CORE LESIONS AND MILD MUSCLE SYMPTOMS Full Text
AUTHORS: Sofia T Duarte; Jorge Oliveira; Rosrio Santos; Pedro Pereira; Candida Barroso; Isabel Conceicao; Teresinha Evangelista;
PUBLISHED: 2011, SOURCE: MUSCLE & NERVE, VOLUME: 44, ISSUE: 1
AUTHORS: Sofia T Duarte; Jorge Oliveira; Rosrio Santos; Pedro Pereira; Candida Barroso; Isabel Conceicao; Teresinha Evangelista;
PUBLISHED: 2011, SOURCE: MUSCLE & NERVE, VOLUME: 44, ISSUE: 1
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TITLE: Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission Full Text
AUTHORS: Sofia T Duarte; Carlos Ortez; Ana Perez; Rafael Artuch; Angels Garcia Cazorla;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34, ISSUE: 2
AUTHORS: Sofia T Duarte; Carlos Ortez; Ana Perez; Rafael Artuch; Angels Garcia Cazorla;
PUBLISHED: 2011, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 34, ISSUE: 2
