There is a need for early, objective markers of Alzheimer's disease (AD)‐related synapse dysfunction in adults with Down syndrome (DS). The presynaptic protein β‐synuclein is elevated in the blood of adults with DS. This study evaluates the positioning of these changes relative to changes in pathophysiological blood bi...
Alba Cervantes González, A. Morcillo-Nieto, Sara Serrano et al.· Alzheimer's & Dementia· 0 citations
Serial biomarker assessment provided stronger prognostic information than baseline measurements alone in clinically stable patients with chronic HF, and longitudinal increases in circulating amyloid-β peptides associated with cognitive decline, structural brain changes, and mortality.
J. Traub, Anna Frey, G. Homola et al.· ESC Heart Failure· 0 citations
Findings provide strong genetic and functional evidence for a disease-causing role of NEK1 kinase disruption in NEK1-ALS and provide immediate diagnostic and therapeutic implications, particularly for the functional interpretation of missense variants of uncertain significance and the development of targeted treatment...
David Brenner, Anna Ponomarenko, Iris Petrut et al.· Acta Neuropathologica Commun...· 1 citation
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