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S. Engelborghs

Researcher at University of Antwerp

Publications -  48
Citations -  4370

S. Engelborghs is an academic researcher from University of Antwerp. The author has contributed to research in topics: Dementia & Stroke. The author has an hindex of 28, co-authored 48 publications receiving 4009 citations.

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Genetic contribution of FUS to frontotemporal lobar degeneration

TL;DR: In a first analysis of FUS in patients with frontotemporal lobar degeneration (FTLD), a novel FUS missense mutation, M254V, is identified in 1 patient with pure FTLD, suggesting that G-insertions/deletions within this G-rich region may be tolerated.
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A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

TL;DR: A novel PS1 mutation is reported in a patient with Pick‐type tauopathy in the absence of extracellular β‐amyloid deposits and is predicted to substitute Gly→Val at codon position 183 (Gly183Val) and to affect the splice signal at the junction of the sixth exon and intron.
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Alzheimer risk associated with a copy number variation in the complement receptor 1 increasing C3b/C4b binding sites.

TL;DR: The data showed that the common AD risk association may well be explained by the presence of CR1-S increasing the number of C3b/C4b and cofactor activity sites and AD risk with 30% in CR2-S carriers, and how precisely the different functional role of CR 1-S in the immune complement cascade contributes to AD pathogenesis will need additional functional studies.