The paper identifies TIMP2 as a blood protein associated with improved cognitive performance in humans using polygenic scores derived from protein quantitative trait loci data.

medRxiv · Jul 23, 2024 · PreprintGenetic & Genomic Medicine

Lipid-regulatory mechanisms drive cerebrovascular disease in asymptomatic individuals at low risk for late-life dementia

Patricia Genius, Blanca Rodríguez‐Fernández, Carolina Minguillón, Anna Brugulat‐Serrat, Jordi Huguet, Manel Esteller, Carole H. Sudre, Marta Cortés‐Canteli, Catarina Tristão‐Pereira, Inés García‐Lunar, Arcadi Navarro, Juan Domingo Gispert, Natàlia Vilor‐Tejedor, ALFA study

The paper identifies lipid-related genetic mechanisms contributing to white matter hyperintensities in middle-aged individuals at low risk for late-life dementia.

medRxiv · May 8, 2024 · PreprintGenetic & Genomic Medicine

Compositional structural brain signatures capture Alzheimer's genetic risk on brain structure along the disease continuum

Patricia Genius, M. Luz Calle, Blanca Rodríguez‐Fernández, Carolina Minguillón, Raffaele Cacciaglia, Diego Garrido-Martín, Manel Esteller, Arcadi Navarro, Juan Domingo Gispert, Natàlia Vilor‐Tejedor, Alzheimer’s Disease Neuroimaging Initiative, ALFA study

The paper identifies brain structure signatures linked to Alzheimer's genetic risk across disease stages using compositional data analysis.

medRxiv · May 8, 2024 · PreprintGenetic & Genomic Medicine

Genetic characterization of the ALFA study: Uncovering genetic profiles in the Alzheimer's continuum.

Natàlia Vilor‐Tejedor, Patricia Genius, Blanca Rodríguez‐Fernández, Carolina Minguillón, Iman Sadeghi, Armand González‐Escalante, Marta Crous‐Bou, Marc Suárez‐Calvet, Oriol Grau‐Rivera, Anna Brugulat‐Serrat, Gonzalo Sánchez‐Benavides, Manel Esteller, Karine Fauria, José Luís Molinuevo, Arcadi Navarro, , for the ALFA study

The paper characterizes the genetic profiles of ALFA participants, showing high AD genetic risk and similarity to clinical groups along the AD continuum.

Alzheimer s & Dementia · Dec 13, 2023Peer-reviewedGenetic & Genomic Medicine

Distinct effects of amyloid and tau deposition on eigenvector centrality during hippocampal down-regulation: a real-time fMRI virtual reality closed-loop neurofeedback study with CSF biomarkers

Stavros Skouras, Jordi Torner, Patrik Andersson, Yury Koush, Carles Falcón, Carolina Minguillón, Karine Fauria, Francesc Alpiste, Kaj Blenow, Henrik Zetterberg, Juan Domingo Gispert, José Luís Molinuevo, for the ALFA Study

The paper investigates how amyloid and tau levels in CSF affect eigenvector centrality during hippocampal down-regulation using real-time fMRI neurofeedback.

bioRxiv · May 31, 2019 · PreprintNeuroscience

The effect of APOE genotype and streamline density volume, on hippocampal CA1 down-regulation: a real-time fMRI virtual reality neurofeedback study

Stavros Skouras, Jordi Torner, Patrik Anderson, Yury Koush, Carles Falcón, Carolina Minguillón, Karine Fauria, Francesc Alpiste, Juan Domingo Gispert, José Luís Molinuevo, the ALFA Study

This study links APOE genotype and hippocampal structure to neurofeedback performance in preclinical Alzheimer's disease risk individuals.

bioRxiv · May 21, 2019 · PreprintNeuroscience