Ana Sofia Temudo Duarte António
AuthID: R-000-X91
1
TITLE: Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
AUTHORS: Sanchis Juan, Alba; Megy, Karyn; Stephens, Jonathan; Ricaurte, Camila Armirola; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E.; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J.; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C.; Gleadall, Nicholas; Duarte, Sofia T.; Hedrera Fernandez, Antonio; Vogt, Julie; Ambegaonkar, Gautam; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 8
AUTHORS: Sanchis Juan, Alba; Megy, Karyn; Stephens, Jonathan; Ricaurte, Camila Armirola; Dewhurst, Eleanor; Low, Kayyi; French, Courtney E.; Grozeva, Detelina; Stirrups, Kathleen; Erwood, Marie; McTague, Amy; Penkett, Christopher J.; Shamardina, Olga; Tuna, Salih; Daugherty, Louise C.; Gleadall, Nicholas; Duarte, Sofia T.; Hedrera Fernandez, Antonio; Vogt, Julie; Ambegaonkar, Gautam; ...More
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 110, ISSUE: 8
INDEXED IN: 
Scopus 
WOS
Scopus WOS2
TITLE: Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
AUTHORS: Robert Behne; Julian Teinert; Miriam Wimmer; Angelica D'Amore; Alexandra K Davies; Joseph M Scarrott; Kathrin Eberhardt; Barbara Brechmann; Ivy Pin Fang Chen; Elizabeth D Buttermore; Lee Barrett; Sean Dwyer; Teresa Chen; Jennifer Hirst; Antje Wiesener; Devorah Segal; Andrea Martinuzzi; Sofia T Duarte; James T Bennett; Thomas Bourinaris; ...More
PUBLISHED: 2020, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 29, ISSUE: 2
AUTHORS: Robert Behne; Julian Teinert; Miriam Wimmer; Angelica D'Amore; Alexandra K Davies; Joseph M Scarrott; Kathrin Eberhardt; Barbara Brechmann; Ivy Pin Fang Chen; Elizabeth D Buttermore; Lee Barrett; Sean Dwyer; Teresa Chen; Jennifer Hirst; Antje Wiesener; Devorah Segal; Andrea Martinuzzi; Sofia T Duarte; James T Bennett; Thomas Bourinaris; ...More
PUBLISHED: 2020, SOURCE: HUMAN MOLECULAR GENETICS, VOLUME: 29, ISSUE: 2
INDEXED IN: Scopus WOS
Scopus WOS3
TITLE: Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
AUTHORS: Alba Sanchis Juan; Marcia A Hasenahuer; James A Baker; Amy McTague; Katy Barwick; Manju A Kurian; Sofia T Duarte; Keren J Carss; Janet Thornton; Lucy L Raymond;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 8, ISSUE: 7
AUTHORS: Alba Sanchis Juan; Marcia A Hasenahuer; James A Baker; Amy McTague; Katy Barwick; Manju A Kurian; Sofia T Duarte; Keren J Carss; Janet Thornton; Lucy L Raymond;
PUBLISHED: 2020, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 8, ISSUE: 7
INDEXED IN: Scopus WOS
Scopus WOS4
TITLE: Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling Full Text
AUTHORS: Miranda Lourenco, C; Duarte, ST; Palminha, C; Gaspar, C; Rodrigues, TM; Magalhaes Cardoso, T; Rei, N; Colino Oliveira, M; Gomes, R; Ferreira, S; Rosa, J; Xapelli, S; Armstrong, J; Garcia Cazorla, A; Correia de Sa, P ; Sebastiao, AM; Diogenes, MJ;
PUBLISHED: 2020, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 145
AUTHORS: Miranda Lourenco, C; Duarte, ST; Palminha, C; Gaspar, C; Rodrigues, TM; Magalhaes Cardoso, T; Rei, N; Colino Oliveira, M; Gomes, R; Ferreira, S; Rosa, J; Xapelli, S; Armstrong, J; Garcia Cazorla, A; Correia de Sa, P ; Sebastiao, AM; Diogenes, MJ;
PUBLISHED: 2020, SOURCE: NEUROBIOLOGY OF DISEASE, VOLUME: 145
5
TITLE: De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures
AUTHORS: Yoko Ito; Keren J Carss; Sofia T Duarte; Taila Hartley; Boris Keren; Manju A Kurian; Isabelle Marey; Perinne Charles; Carla Mendonca; Caroline Nava; Rolph Pfundt; Alba Sanchis Juan; Hans van Bokhoven; Anthony van Essen; Conny van Ravenswaaij Arts; Kym M Boycott; Kristin D Kernohan; Sarah Dyack; Lucy L Raymond;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 1
AUTHORS: Yoko Ito; Keren J Carss; Sofia T Duarte; Taila Hartley; Boris Keren; Manju A Kurian; Isabelle Marey; Perinne Charles; Carla Mendonca; Caroline Nava; Rolph Pfundt; Alba Sanchis Juan; Hans van Bokhoven; Anthony van Essen; Conny van Ravenswaaij Arts; Kym M Boycott; Kristin D Kernohan; Sarah Dyack; Lucy L Raymond;
PUBLISHED: 2018, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 103, ISSUE: 1
INDEXED IN: WOS
WOS6
TITLE: Assessing the information about drug-drug interactions in Portuguese summaries of product characteristics of non-prescription medicines: Preliminary results Full Text
AUTHORS: Mara Pereira Guerreiro; Ana Duarte; Carla Nunes;
PUBLISHED: 2017, SOURCE: JOURNAL OF PHARMACY AND PHARMACOLOGY, VOLUME: 69
AUTHORS: Mara Pereira Guerreiro; Ana Duarte; Carla Nunes;
PUBLISHED: 2017, SOURCE: JOURNAL OF PHARMACY AND PHARMACOLOGY, VOLUME: 69
INDEXED IN: WOS
WOS7
TITLE: Adenosine A(1) Receptor Suppresses Tonic GABA(A) Receptor Currents in Hippocampal Pyramidal Cells and in a Defined Subpopulation of Interneurons
AUTHORS: Diogo M Rombo; Raquel B Dias; Sofia T Duarte; Joaquim A Ribeiro; Karri P Lamsa; Ana M Sebastiao;
PUBLISHED: 2016, SOURCE: CEREBRAL CORTEX, VOLUME: 26, ISSUE: 3
AUTHORS: Diogo M Rombo; Raquel B Dias; Sofia T Duarte; Joaquim A Ribeiro; Karri P Lamsa; Ana M Sebastiao;
PUBLISHED: 2016, SOURCE: CEREBRAL CORTEX, VOLUME: 26, ISSUE: 3
8
TITLE: INTERSTITIAL LUNG DISEASE IN SCLERODERMA PORTUGUESE PATIENTS
AUTHORS: Sousa, SI; Duarte, A; Cordeiro, I; Teixeira, L; Canas da Silva, JC; Cordeiro, A; Santos, MJ;
PUBLISHED: 2016, SOURCE: Annual European Congress of Rheumatology (EULAR) in ANNALS OF THE RHEUMATIC DISEASES, VOLUME: 75
AUTHORS: Sousa, SI; Duarte, A; Cordeiro, I; Teixeira, L; Canas da Silva, JC; Cordeiro, A; Santos, MJ;
PUBLISHED: 2016, SOURCE: Annual European Congress of Rheumatology (EULAR) in ANNALS OF THE RHEUMATIC DISEASES, VOLUME: 75
INDEXED IN: WOS
WOS9
TITLE: Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency Full Text
AUTHORS: Ortez, C; Duarte, ST; Ormazabal, A; Serrano, M; Perez, A; Pons, R; Pineda, M; Yapici, Z; Fernandez Alvarez, E; Domingo Jimenez, R; De Castro, P; Artuch, R; Garcia Cazorla, A;
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 114, ISSUE: 1
AUTHORS: Ortez, C; Duarte, ST; Ormazabal, A; Serrano, M; Perez, A; Pons, R; Pineda, M; Yapici, Z; Fernandez Alvarez, E; Domingo Jimenez, R; De Castro, P; Artuch, R; Garcia Cazorla, A;
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 114, ISSUE: 1
10
TITLE: Molecular detection of haemotropic Mycoplasma species in urban and rural cats from Portugal Full Text
AUTHORS: Ana Duarte; Vania Marques; Jose Henrique D Duarte Correia; Isabel Neto; Berta São Braz ; Claudia Rodrigues; Telma Martins; Ricardo Rosado; Joaquim Pedro Ferreira; Margarida Santos Reis; Luis Tavares;
PUBLISHED: 2015, SOURCE: JOURNAL OF FELINE MEDICINE AND SURGERY, VOLUME: 17, ISSUE: 6
AUTHORS: Ana Duarte; Vania Marques; Jose Henrique D Duarte Correia; Isabel Neto; Berta São Braz ; Claudia Rodrigues; Telma Martins; Ricardo Rosado; Joaquim Pedro Ferreira; Margarida Santos Reis; Luis Tavares;
PUBLISHED: 2015, SOURCE: JOURNAL OF FELINE MEDICINE AND SURGERY, VOLUME: 17, ISSUE: 6
