Encontrados 6 documentos, a visualizar página 1 de 1
Neurometabolic profiles of autism spectrum disorder patients with genetic varia...
Vilela, Joana; Pereira, Andreia C.; Violante, Inês R.; Mouga, Susana; Rasga, Célia; Santos, João Xavier; Martiniano, Hugo; Marques, Ana RitaAutism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by impaired social interaction, and restricted and repetitive patterns of behavior. ASD presents as a clinical spectrum, with variable levels of severity and multiple co-occurring conditions. The etiology of ASD may involve hundreds of genes and there is evidence that neurotransmitter and synaptic (NS) pathways are implicated. Proton...
Motor Cortex Excitation/Inhibition Imbalance in Young Adults With Autism Spectr...
Bernardino, Inês; Dionísio, Ana; Violante, Inês R.; Monteiro, Raquel; Castelo-Branco, MiguelExcitatory/inhibitory imbalance has been suggested as a neurobiological substrate of the cognitive symptomatology in Autism Spectrum Disorder (ASD). Studies using magnetic resonance spectroscopy (MRS) attempted to characterize GABA and Glutamate brain levels in ASD. However mixed findings have been reported. Here, we characterize both neurochemical and physiological aspects of GABA system in ASD by implementing...
The neurometabolic profiles of GABA and Glutamate as revealed by proton magneti...
d'Almeida, Otília C.; Violante, Inês R.; Quendera, Bruno; Moreno, Carolina; Gomes, Leonor; Castelo-Branco, MiguelGlucose metabolism is pivotal for energy and neurotransmitter synthesis and homeostasis, particularly in Glutamate and GABA systems. In turn, the stringent control of inhibitory/excitatory tonus is known to be relevant in neuropsychiatric conditions. Glutamatergic neurotransmission dominates excitatory synaptic functions and is involved in plasticity and excitotoxicity. GABAergic neurochemistry underlies inhibi...
Testing the excitation/inhibition imbalance hypothesis in a mouse model of the ...
Gonçalves, Joana; Violante, Inês R.; Sereno, José; Leitão, Ricardo A.; Cai, Ying; Abrunhosa, Antero; Silva, Ana Paula; Silva, Alcino J.Background: Excitation/inhibition (E/I) imbalance remains a widely discussed hypothesis in autism spectrum disorders (ASD). The presence of such an imbalance may potentially define a therapeutic target for the treatment of cognitive disabilities related to this pathology. Consequently, the study of monogenic disorders related to autism, such as neurofibromatosis type 1 (NF1), represents a promising approach to ...
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1:...
Violante, Inês R.; Ribeiro, Maria J.; Silva, Eduardo D.; Castelo-Branco, MiguelNeurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural abnormalities in patients with NF1. Previous studies have reported contradictory findings and have focused only on volumetric measurements. Here, we investigated the volumes of subc...
Abnormal brain activation in neurofibromatosis type 1: a link between visual pr...
Violante, Inês R.; Ribeiro, Maria J.; Cunha, Gil; Bernardino, Inês; Duarte, João V.; Ramos, Fabiana; Saraiva, Jorge; Silva, EduardoNeurofibromatosis type 1 (NF1) is one of the most common single gene disorders affecting the human nervous system with a high incidence of cognitive deficits, particularly visuospatial. Nevertheless, neurophysiological alterations in low-level visual processing that could be relevant to explain the cognitive phenotype are poorly understood. Here we used functional magnetic resonance imaging (fMRI) to study earl...