3 documents found, page 1 of 1
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...
Martins, M; Oliveira, AR; Martins, S; Vieira, JP; Perdigão, P; Fernandes, AR; de Almeida, LP; Palma, PJ; Sequeira, DB; Santos, JM; Duque, F; Oliveira, GDisruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...
Fine Particulate Matter and Gaseous Compounds in Kitchens and Outdoor Air of Di...
Alves, C; Vicente, A; Oliveira, AR; Candeias, C; Vicente, E; Nunes, T; Cerqueira, M; Evtyugina, M; Rocha, F; Almeida, SMPassive diffusion tubes for volatile organic compounds (VOCs) and carbonyls and low volume particulate matter (PM2.5) samplers were used simultaneously in kitchens and outdoor air of four dwellings. PM2.5 filters were analysed for their carbonaceous content (organic and elemental carbon, OC and EC) by a thermo-optical technique and for polycyclic aromatic hydrocarbon (PAHs) and plasticisers by GC-MS. The morpho...
Regional White Matter Atrophy Correlates with Spike Activity in Encephalopathy ...
Oliveira, AR; Nunes, RG; Figueiredo, P; Dias, AI; Leal, AEncephalopathy related to Status Epilepticus during slow Sleep (ESES) is an age-related, epileptic syndrome, which associates cognitive/behavioral disturbances with a peculiar pattern of spike activity. One promising line of research is the study of ESES in cases of early thalamic lesions. We studied 7 ESES patients with unilateral thalamic lesions using magnetic resonance imaging to assess regional white matte...