Browsing by Author "Garcia Prat, Marina"

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Lifetime stressful events associated with Alzheimer's Pathologies, neuroinflammation and brain structure in a risk enriched cohort

Palpatzis, Eleni; Akinci, Muge; Aguilar Dominguez, Pablo; Garcia Prat, Marina; Blennow, Kaj; Zetterberg, Henrik; Carboni, Margherita; Kollmorgen, Gwendlyn; Wild, Norbert; Fauria, Karine; Falcón, Carles; Gispert López, Juan Domingo; Suárez-Calvet, Marc; Grau-Rivera, Oriol; Sánchez Benavides, Gonzalo; Arenaza Urquijo, Eider M.; ALFA Study (Wiley, 2024)

Objective: Along with the known effects of stress on brain structure and inflammatory processes, increasing evidence suggest a role of chronic stress in the pathogenesis of Alzheimer's disease (AD). We investigated the ...
LRBA deficiency in a patient with a novel homozygous mutation due to chromosome 4 segmental uniparental isodisomy

Soler-Palacín, Pere; Garcia Prat, Marina; Martín-Nalda, Andrea; Franco-Jarava, Clara; Rivière, Jacques G.; Plaja, Alberto; Bezdan, Daniela; Bosio, Mattia; Martínez-Gallo, Mónica; Ossowski, Stephan; Colobran, Roger (Frontiers, 2018)

LRBA deficiency was first described in 2012 as an autosomal recessive disorder caused by biallelic mutations in the LRBA gene (OMIM #614700). It was initially characterized as producing early-onset hypogammaglobulinemia, ...

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