Zobrazeno 1 - 10
of 143
pro vyhledávání: '"Guiomar, Oliveira"'
Autor:
Louise Gallagher, Michael Absoud, Miguel Castelo-Branco, Tony Charman, Maja Hempel, Richard Delorme, Guiomar Oliveira, Roberta Battini, Sven Bölte, Claire S Leblond, Thomas Bourgeron, Alexandra Lautarescu, Mercedes Serrano, Federico Vigevano, Christian P Schaaf, Bethany Oakley, Julian Tillmann, Pierre Violland, Declan G M Murphy, Sarah Douglas, Paolo Bonanni, Grainne McAlonan, Roberta Milone, Josefina Castro-Fornieles, Madeleine Bloomfield, Síofra Heraty, Roderik Plas, Anjuli Ghosh, Katrien Van den Bosch, Eliza Eaton, Ana Blázquez Hinojosa, Nadia Bolshakova, Jacqueline Borg, Sara Calderoni, Rosa Calvo Escalona, Pilar Caro, Freddy Cliquet, Alberto Danieli, Maurizio Elia, Nuno Madeira, Ciara J Molloy, Susana Mouga, Virginia Montiel, Ana Pina Rodrigues, Kristiina Tammimies, Charlotte Tye, Beatrice Mazzone, Cara O’Neill, Julie Pender, Verena Romero, Christopher Chatham
Publikováno v:
BMJ Open, Vol 14, Iss 6 (2024)
Introduction Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed
Externí odkaz:
https://doaj.org/article/815fdc95324e48c4ab0f1f29dd80968c
Autor:
Ana Dionísio, Ana Espírito, Andreia C. Pereira, Susana Mouga, Otília C. d’Almeida, Guiomar Oliveira, Miguel Castelo-Branco
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-10 (2024)
Abstract Autism spectrum disorder (ASD) is a neurodevelopmental condition which compromises various cognitive and behavioural domains. The understanding of the pathophysiology and molecular neurobiology of ASD is still an open critical research quest
Externí odkaz:
https://doaj.org/article/c9c7e4a258a6437a9df2ba7d713bfa81
Autor:
Zeinab Asgarian, Marcio Guiomar Oliveira, Agata Stryjewska, Ioannis Maragkos, Anna Noren Rubin, Lorenza Magno, Vassilis Pachnis, Mohammadmersad Ghorbani, Scott Wayne Hiebert, Myrto Denaxa, Nicoletta Kessaris
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-15 (2022)
There is a large diversity of inhibitory interneurons in the mammalian cerebral cortex. How this emerges during embryogenesis remains unclear. Here, the authors identify MTG8 as a co-factor of LHX6 and a new regulator of cortical interneuron developm
Externí odkaz:
https://doaj.org/article/00979fa66fb446ab972a14461acf5a6a
Autor:
Célia Rasga, João Xavier Santos, Cátia Café, Alexandra Oliveira, Frederico Duque, Manuel Posada, Ana Nunes, Guiomar Oliveira, Astrid Moura Vicente
Publikováno v:
Frontiers in Psychiatry, Vol 14 (2023)
IntroductionAccurate prevalence estimates for Autism Spectrum Disorder (ASD) are fundamental to adequately program medical and educational resources for children. However, estimates vary globally and across Europe, and it is therefore wise to conduct
Externí odkaz:
https://doaj.org/article/adc00bdba20a4535b18d2d9d3ecaff36
Autor:
Ana Moura-Figueiredo, Joana Amaral, Guiomar Oliveira, Núria Madureira, Miguel Félix, Cândida Cancelinha
Publikováno v:
Portuguese Journal of Pediatrics, Vol 54, Iss 3 (2023)
Introduction: In home mechanical ventilated (HMV) children, treatment is not based on cure, but rather on preventing morbidity and mortality and promoting their well-being. This study aimed to evaluate the different dimensions of quality of life (QoL
Externí odkaz:
https://doaj.org/article/239735a3da864e849b6c2852210d7b0b
Autor:
Juliana Roda, Teresa Teixeira, Iris AI Silva, Teresa Reis Silva, Ricardo Ferreira, Margarida D. Amaral, Guiomar Oliveira
Publikováno v:
Jornal de Pediatria, Vol 98, Iss 2, Pp 212-217 (2022)
Objectives: Cystic fibrosis (CF) is a severe autosomal recessive disease that results from mutations in a gene encoding the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) protein, a chloride channel. This study aims to characterize the cl
Externí odkaz:
https://doaj.org/article/62b5a45aa16b4142b4241695d8ff66da
Autor:
Joana Vilela, Hugo Martiniano, Ana Rita Marques, João Xavier Santos, Muhammad Asif, Célia Rasga, Guiomar Oliveira, Astrid Moura Vicente
Publikováno v:
Biomedicines, Vol 11, Iss 11, p 2971 (2023)
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by communication deficits and repetitive behavioral patterns. Hundreds of candidate genes have been implicated in ASD, including neurotransmission and synaptic (NS) genes;
Externí odkaz:
https://doaj.org/article/8492c3e91fe24c3fbc61a96560a41b2e
Autor:
Susana Mouga, Isabel Catarina Duarte, Cátia Café, Daniela Sousa, Frederico Duque, Guiomar Oliveira, Miguel Castelo-Branco
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background The concomitant role of the Central Executive, the Saliency and the Social Cognition networks in autism spectrum disorder (ASD) in demanding ecological tasks remains unanswered. We addressed this question using a novel task-based
Externí odkaz:
https://doaj.org/article/13f71539f29f403792157d91c4b9b178
Autor:
Teresa Sousa, Helena Catarina Pereira, Daniela Sousa, Joana Crisóstomo, Marta Teixeira, Diana Sousa, Ana Ferreira, Joana Amaral, Frederico Duque, Guiomar Oliveira, Kerstin Krauel, Carolin Breitling, Alexander Prehn, Michael Siniatchkin, Miguel Castelo-Branco
Publikováno v:
Brain Stimulation, Vol 16, Iss 1, Pp 337-338 (2023)
Externí odkaz:
https://doaj.org/article/cf809517c0cf440397101abc9c05f0cf
Autor:
Joana Vilela, Hugo Martiniano, Ana Rita Marques, João Xavier Santos, Célia Rasga, Guiomar Oliveira, Astrid Moura Vicente
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 15 (2022)
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder with heterogeneous clinical presentation, variable severity, and multiple comorbidities. A complex underlying genetic architecture matches the clinical heterogeneity, and evidence indica
Externí odkaz:
https://doaj.org/article/b2ec72d7ed224cd79da47cc8cbdaa7f8