Search Results - "Duarte, Sofia T"

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking by 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

“…Abstract Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1),…”
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Loss of hierarchical imprinting regulation at the Prader-Willi/Angelman syndrome locus in human iPSCs by 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

“…Abstract The human chr15q11-q13 imprinted cluster is linked to several disorders, including Prader-Willi (PWS) and Angelman (AS) syndromes. Recently, disease…”
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Impairment of adenosinergic system in Rett syndrome: Novel therapeutic target to boost BDNF signalling by 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

“…Rett syndrome (RTT; OMIM#312750) is mainly caused by mutations in the X-linked MECP2 gene (methyl-CpG-binding protein 2 gene; OMIM*300005), which leads to…”
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Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells by 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

“…Standardization of culture methods for human pluripotent stem cell (PSC) neural differentiation can greatly contribute to the development of novel clinical…”
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Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate by 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

“…Background Cys‐loop receptors control neuronal excitability in the brain and their dysfunction results in numerous neurological disorders. Recently, six…”
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Adenosine A1 Receptor Suppresses Tonic GABAA Receptor Currents in Hippocampal Pyramidal Cells and in a Defined Subpopulation of Interneurons by Rombo, Diogo M, Dias, Raquel B, Duarte, Sofia T, Ribeiro, Joaquim A, Lamsa, Karri P, Sebastião, Ana M

“…Adenosine is an endogenous neuromodulator that decreases excitability of hippocampal circuits activating membrane-bound metabotropic A1 receptor (A1R). The…”
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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders by 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.

“…Despite significant progress in unraveling the genetic causes of neurodevelopmental disorders (NDDs), a substantial proportion of individuals with NDDs remain…”
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Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms by Duarte, Sofia T., Oliveira, Jorge, Santos, Rośrio, Pereira, Pedro, Barroso, Cândida, Conceição, Isabel, Evangelista, Teresinha

“…Introduction: Ryanodine receptor gene (RYR1) mutations have been associated with central core disease (CCD), multiminicore/minicore/multicore disease (MmD),…”
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Atypical phenotype in two patients with LAMA2 mutations by 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

“…Abstract Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with…”
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AP4S1 splice-site mutation in a case of spastic paraplegia type 52 with polymicrogyria by Carmona, Susana, Marecos, Clara, Amorim, Marta, Ferreira, Ana C, Conceição, Carla, Brás, José, Duarte, Sofia T, Guerreiro, Rita

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Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission by Duarte, Sofia T., Ortez, Carlos, Pérez, Ana, Artuch, Rafael, García-Cazorla, Angels

“…In a few rare diseases, specialised studies in cerebrospinal fluid (CSF) are required to identify the underlying metabolic disorder. We aimed to explore the…”
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Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency by 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

“…17β-hydroxysteroid dehydrogenase 10 (HSD10) deficiency is a rare X-linked inborn error of isoleucine catabolism. Although this protein has been genetically…”
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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 by Rombo, Diogo M., Dias, Raquel B., Duarte, Sofia T., Ribeiro, Joaquim A., Lamsa, Karri P., Sebastião, Ana M.

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Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders by 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

“…Aim To determine the prevalence of dopaminergic abnormalities in 1388 children with neurological disorders, and to analyse their clinical, neuroradiological,…”
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GNAO1 : un nuevo gen a considerar en la distonía temprana de la infancia by Marecos, Clara, Duarte, Sofia T., Alonso, Isabel, Calado, Eulália, Moreira Lopes, Ana

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Comunicación neuronal y metabolismo sináptico en epilepsia infantil by García Cazorla, Àngels, Cortès Saladelafont, Elisenda, Duarte, Sofia T.

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