6 documents found, page 1 of 1
A KIF5A Motor Domain Pathogenic Variant Associated with Spastic Paraplegia Type...
Jesus, Tiago; Paula, André; Carvalho, Vanessa; Correia Guedes, LeonorSpastic paraplegia type 10 is an autosomal dominant disease caused by KIF5A gene pathogenic variants. It commonly presents as pure spastic paraplegia but occasionally appears associated with polyneuropathy, cognitive impairment, parkinsonism, cerebellar ataxia, retinitis pigmentosa or deafness. The gene KIF5A codifies the kinesin-1 heavy chain, a protein with three main parts (globular motor domain, alfa-helica...
Cognitive impairment in neurodegenerative diseases: A trans-diagnostic approach...
Morais, Ricardo Félix; Pires, Ricardo; Jesus, Tiago; Baptista de Lemos Guerra de Oliveira, Raquel Maria; Duro, Diana; Lima, Marisa; Baldeiras, InêsIntroduction: Neurodegenerative disorders, such as Alzheimer’s disease (AD) and frontotemporal dementia (bvFTD), reflect a spectrum of cognitive impairments unified by cognitive decline. Traditional diagnostic approaches often overlook shared landscapes of these disorders. A transdiagnostic approach, cutting across conventional boundaries, may improve understanding of shared mechanisms. This study uses lesion-s...
Evaluation of the Thermofluidic Performance of Climatic Chambers: Numerical and...
Ramezani, Bahareh; Tadeu, António; Jesus, Tiago; Brett, Michael; Mendes, JoelClimatic chambers are highly important in research and industrial applications and are used to examine manufactured samples, specimens, or components in controlled environment conditions. Despite the growing industrial demand for climatic chambers, only a few published studies have specifically concentrated on performance analysis and functional improvements through numerical and experimental studies. In this s...
CENTRO DE MEMÓRIAS DO BARCO RABELO E DO RIO DOURO
Jesus, TiagoA água traduz-se num elemento determinante no desenvolvimento urbano, uma vez que foi um fator que influenciou significativamente a criação de várias cidades. As waterfronts nascem de uma conexão da cidade com a água e, durante o século XX tornou-se um tema de debate político de grande importância devido ao aumento exponencial de abandono de margens, o que levava à criação de Vazios Urbanos. Após se perceber a ...
Transcriptome profiling of two Iberian freshwater fish exposed to thermal stress
Jesus, Tiago; Grosso, Ana Rita; Almeida-Val, Vera Maria Fonseca; Coelho, Maria ManuelaThe congeneric freshwater fish Squalius carolitertii and S. torgalensis inhabit different Iberian regions with distinct climates; Atlantic in the North and Mediterranean in the South, respectively. While northern regions present mild temperatures, fish in southern regions often experience harsh temperatures and droughts. Previous work with two hsp70 genes suggested that S. torgalensis is better adapted to harsh...
Integrating medical patient data with family trees to improve the quality of in...
Sousa, Eliana; Jesus, Tiago; Neves, Lina; Costa, Mónica; Ribeiro, Fernando Reinaldo; Metrôlho, J.C.M.M.; Correia, Ricardo CruzThe way patient information is presented has been proven to have an important impact on patient care. This paper presents a software component to be integrated in a virtual patient record used in a Portuguese hospital. This component supports genetic oncology consultations and aims to help the physician needs to visualize the patient's family tree in order to diagnose hereditary cancers in both patient and pati...