Publications by authors named "Duber Gomez-Fonseca"

Article Synopsis
  • Amyloid-beta 42 (Aβ42) and phosphorylated tau (pTau) levels in cerebrospinal fluid (CSF) offer better insight into Alzheimer's disease (AD) than just clinical diagnosis.
  • The European Alzheimer & Dementia Biobank (EADB) analyzed data from 31 cohorts with over 13,000 individuals, identifying new genetic associations such as CR1 for Aβ42 and BIN1 for pTau, alongside novel associations with GMNC and C16orf95.
  • Analysis of all AD risk loci revealed four biological categories linked to Aβ42 and pTau, suggesting multiple pathways in AD's development, with further studies indicating GMNC and C16orf95 also relate to brain ventricular volume.
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Background: The SOMAscan assay has an advantage over immunoassay-based methods because it measures a large number of proteins in a cost-effective manner. However, the performance of this technology compared to the routinely used immunoassay techniques needs to be evaluated.

Objective: We performed comparative analyses of SOMAscan and immunoassay-based protein measurements for five cerebrospinal fluid (CSF) proteins associated with Alzheimer's disease (AD) and neurodegeneration: NfL, Neurogranin, sTREM2, VILIP-1, and SNAP-25.

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Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis.

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