3 documents found, page 1 of 1
Pathophysiology of Blood–Brain Barrier Permeability Throughout the Different St...
Bernardo-Castro, S; Sousa, JA; Brás, A; Cecília, C; Rodrigues, B; Almendra, L; Machado, C; Santo, G; Silva, F; Ferreira, L; Santana, IThe blood-brain barrier (BBB) is a dynamic interface responsible for maintaining the central nervous system homeostasis. Its unique characteristics allow protecting the brain from unwanted compounds, but its impairment is involved in a vast number of pathological conditions. Disruption of the BBB and increase in its permeability are key in the development of several neurological diseases and have been extensive...
Increased risk of melanoma in C9ORF72 repeat expansion carriers: A case-control...
Tábuas-Pereira, M; Almendra, L; Almeida, MR; Durães, J; Pinho, AR; Matos, A; Negrão, L; Geraldo, A; Santana, IINTRODUCTION: Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are considered part of the same pathological spectrum. There is an increased risk of ALS in patients who have had melanoma. The risk of FTLD in melanoma (or cancer) patients is unknown. We aimed to study if C9ORF72 expansion is linked to a higher prevalence of melanoma. METHODS: We selected patients with a diagnosis i...
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-...
Oliveira, J; Gruber, A; Cardoso, M; Taipa, R; Fineza, I; Gonçalves, A; Laner, A; Winder, TL; Schroeder, J; Rath, J; Oliveira, ME; Vieira, E; Sousa, APCongenital muscular dystrophy type 1A (MDC1A) is one of the main subtypes of early-onset muscle disease, caused by disease-associated variants in the laminin-α2 (LAMA2) gene. MDC1A usually presents as a severe neonatal hypotonia and failure to thrive. Muscle weakness compromises normal motor development, leading to the inability to sit unsupported or to walk independently. The phenotype associated with LAMA2 de...