Research
Find research shared by the Owlstown community.
Biallelic Expansion of an intronic Repeat in the RFC1 Gene is a common cause 1 of Late-Onset Ataxia 2
Publication · October 29, 2025
Genetic Effects on Human Microglia Transcriptome in Neuropsychiatric Diseases
Publication · October 29, 2025
Dysregulation of mitochondrial and proteolysosomal genes in Parkinson’s disease myeloid cells
Publication · October 29, 2025
New insights into the genetic etiology of Alzheimer’s disease and related dementias
Abstract
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-w...
Publication · October 29, 2025
Recent advances in research and care of familial hypercholesterolaemia.
Publication · October 29, 2025
Application of a Pilot Screening Program for Familial Hypercholesterolemia in a High-Complexity Hospital Center.
Abstract
One of the current challenges is the early identification of patients with Familial Hypercholesterolemia (FH) through clinical diagnosis and genetic analysis to initiate treatment and prevent the development of atherosclerotic disease.
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Publication · October 29, 2025
Sitosterolemia in Iberoamerican countries: 16 new cases and phenotype genotype analysis.
Publication · October 29, 2025
Understanding AI Trustworthiness: A Scoping Review of AIES & FAccT Articles
Publication · October 29, 2025
Teasing apart the impact of different forms of overlap on cross-linguistic structural priming
Publication · October 29, 2025
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