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Behne, Robert, Teinert, Julian, Wimmer, Miriam, D’Amore, Angelica, Davies, Alexandra K, Scarrott, Joseph M, Eberhardt, Kathrin, Brechmann, Barbara, Chen, Ivy Pin-Fang, Buttermore, Elizabeth D, Barrett, Lee, Dwyer, Sean, Chen, Teresa, Hirst, Jennifer, Wiesener, Antje, Segal, Devorah, Martinuzzi, Andrea, Duarte, Sofia T, Bennett, James T, Bourinaris, Thomas, Houlden, Henry, Roubertie, Agathe, Santorelli, Filippo M, Robinson, Margaret, Azzouz, Mimoun, Lipton, Jonathan O, Borner, Georg H H, Sahin, Mustafa, Ebrahimi-Fakhari, Darius
Published in Human molecular genetics (15.01.2020)
Published in Human molecular genetics (15.01.2020)
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Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs
Pólvora-Brandão, Duarte, Joaquim, Mariana, Godinho, Inês, Aprile, Domenico, Álvaro, Ana Rita, Onofre, Isabel, Raposo, Ana Cláudia, Pereira de Almeida, Luís, Duarte, Sofia T, da Rocha, Simão T
Published in Human molecular genetics (01.12.2018)
Published in Human molecular genetics (01.12.2018)
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Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells
Fernandes, Tiago G, Duarte, Sofia T, Ghazvini, Mehrnaz, Gaspar, Cláudia, Santos, Diana C, Porteira, Ana R, Rodrigues, Gonçalo M C, Haupt, Simone, Rombo, Diogo M, Armstrong, Judith, Sebastião, Ana M, Gribnau, Joost, Garcia-Cazorla, Àngels, Brüstle, Oliver, Henrique, Domingos, Cabral, Joaquim M S, Diogo, Maria Margarida
Published in Biotechnology journal (01.10.2015)
Published in Biotechnology journal (01.10.2015)
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Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
Sanchis‐Juan, Alba, Hasenahuer, Marcia A., Baker, James A., McTague, Amy, Barwick, Katy, Kurian, Manju A., Duarte, Sofia T., Carss, Keren J., Thornton, Janet, Raymond, F. Lucy
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Adenosine A1 Receptor Suppresses Tonic GABAA Receptor Currents in Hippocampal Pyramidal Cells and in a Defined Subpopulation of Interneurons
Rombo, Diogo M, Dias, Raquel B, Duarte, Sofia T, Ribeiro, Joaquim A, Lamsa, Karri P, Sebastião, Ana M
Published in Cerebral cortex (New York, N.Y. 1991) (01.03.2016)
Published in Cerebral cortex (New York, N.Y. 1991) (01.03.2016)
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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders
Sanchis-Juan, Alba, Megy, Karyn, Stephens, Jonathan, Armirola Ricaurte, Camila, 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-Fernández, Antonio, Vogt, Julie, Ambegaonkar, Gautam, Chitre, Manali, Josifova, Dragana, Kurian, Manju A., Parker, Alasdair, Rankin, Julia, Reid, Evan, Wakeling, Emma, Wassmer, Evangeline, Woods, C. Geoffrey, Raymond, F. Lucy, Carss, Keren J.
Published in American journal of human genetics (03.08.2023)
Published in American journal of human genetics (03.08.2023)
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Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling
Miranda-Lourenço, Catarina, Duarte, Sofia T., Palminha, Cátia, Gaspar, Cláudia, Rodrigues, Tiago M., Magalhães-Cardoso, Teresa, Rei, Nádia, Colino-Oliveira, Mariana, Gomes, Rui, Ferreira, Sara, Rosa, Jéssica, Xapelli, Sara, Armstrong, Judith, García-Cazorla, Àngels, Correia-de-Sá, Paulo, Sebastião, Ana M., Diógenes, Maria José
Published in Neurobiology of disease (01.11.2020)
Published in Neurobiology of disease (01.11.2020)
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Atypical phenotype in two patients with LAMA2 mutations
Marques, Joana, Duarte, Sofia T, Costa, Sónia, Jacinto, Sandra, Oliveira, Jorge, Oliveira, Márcia E, Santos, Rosário, Bronze-da-Rocha, Elsa, Silvestre, Ana Rita, Calado, Eulália, Evangelista, Teresinha
Published in Neuromuscular disorders : NMD (01.05.2014)
Published in Neuromuscular disorders : NMD (01.05.2014)
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AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria
Carmona, Susana, Marecos, Clara, Amorim, Marta, Ferreira, Ana C, Conceição, Carla, Brás, José, Duarte, Sofia T, Guerreiro, Rita
Published in Neurology. Genetics (01.10.2018)
Published in Neurology. Genetics (01.10.2018)
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Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission
Duarte, Sofia T., Ortez, Carlos, Pérez, Ana, Artuch, Rafael, García-Cazorla, Angels
Published in Journal of inherited metabolic disease (01.04.2011)
Published in Journal of inherited metabolic disease (01.04.2011)
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Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency
Ortez, Carlos, Villar, Cristina, Fons, Carmen, Duarte, Sofía T., Pérez, Ana, García-Villoria, Judith, Ribes, Antonia, Ormazábal, Aida, Casado, Mercedes, Campistol, Jaume, Vilaseca, Maria Antonia, García-Cazorla, Angels
Published in Journal of Alzheimer's disease (01.01.2011)
Published in Journal of Alzheimer's disease (01.01.2011)
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Adenosine A 1 Receptor Suppresses Tonic GABA A Receptor Currents in Hippocampal Pyramidal Cells and in a Defined Subpopulation of Interneurons
Rombo, Diogo M., Dias, Raquel B., Duarte, Sofia T., Ribeiro, Joaquim A., Lamsa, Karri P., Sebastião, Ana M.
Published in Cerebral cortex (New York, N.Y. 1991) (01.03.2016)
Published in Cerebral cortex (New York, N.Y. 1991) (01.03.2016)
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Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders
Molero‐Luis, Marta, Serrano, Mercedes, Ormazábal, Aida, Pérez‐Dueñas, Belén, García‐Cazorla, Àngels, Pons, Roser, Artuch, Rafael, Amartino, Hernan, Arrabal, Luisa, Campistol, Jaume, Casado, Mercedes, Castro, Pedro Castro, Cormand, Bru, Dinopoulos, Argirios, Domingo, Rosario, Duarte, Sofia T, Fernández‐Álvarez, Emilio, Desviat, Lourdes R, Hegde, Anaita, López‐Laso, Eduardo, Montero, Raquel, Ortez, Carlos, Pérez, Belén, Pineda, Mercé, Sierra, Cristina, Szlago, Marina, Schenone, Andrea B., Ruiz, Ángeles, Sequeira, Sílvia, Tondo, Mireia, Yapici, Zuhal, Iniesta, Raquel
Published in Developmental medicine and child neurology (01.06.2013)
Published in Developmental medicine and child neurology (01.06.2013)
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Impairment of adenosinergic system in Rett syndrome: novel therapeutic target to boost BDNF signalling
Miranda Lourenço, Catarina, Duarte, Sofia T., Palminha, Cátia, Gaspar, Claudia, Rodrigues, Tiago M., Magalhães-Cardoso, Teresa, Henriques Rei, Nádia Raquel, Colino-Oliveira, Mariana, Gomes, Rui, Ferreira, Sara, Rosa, Jéssica, Xapelli, Sara, Armstrong, Judith, García-Cazorla, Àngels, Correia-de-Sá, Paulo, Sebastião, Ana M, de Oliveira Diógenes Nogueira, Maria José
Published in Neurobiology of disease (2020)
Published in Neurobiology of disease (2020)
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GNAO1 : un nuevo gen a considerar en la distonía temprana de la infancia
Marecos, Clara, Duarte, Sofia T., Alonso, Isabel, Calado, Eulália, Moreira Lopes, Ana
Published in Revista de neurologiá (2018)
Published in Revista de neurologiá (2018)
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Comunicación neuronal y metabolismo sináptico en epilepsia infantil
García Cazorla, Àngels, Cortès Saladelafont, Elisenda, Duarte, Sofia T.
Published in Revista de neurologiá (2015)
Published in Revista de neurologiá (2015)
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Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
Sanchis-Juan, Alba, Hasenahuer, Marcia A, Baker, James A, Mctague, Amy, Barwick, Katy, Kurian, Manju A, Duarte, Sofia T, Bioresource, Nihr, Thornton, Janet, Raymond, F Lucy
Published in bioRxiv (21.06.2019)
Published in bioRxiv (21.06.2019)
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