Misprocessing of amyloid precursor protein (APP) is one of the major causes of Alzheimer's disease. APP comprises a large extracellular region, a single transmembrane helix and a short cytoplasmic tail containing an NPxY motif (normally referred to as the YENPTY motif). Talins are synaptic scaffold proteins that connect the cytoskeletal machinery to the plasma membrane via binding NPxY motifs in the cytoplasmic tail of integrins.
View Article and Find Full Text PDFThis study aimed to evaluate clinical utility of 2D-markerless motion analysis (2DMMA) from a single camera during a reaching-sideways-task in individuals with dyskinetic cerebral palsy (DCP) by determining (1) concurrent validity by correlating 2DMMA against marker-based 3D-motion analysis (3DMA) and (2) construct validity by assessing differences in 2DMMA features between DCP and typically developing (TD) peers. 2DMMA key points were tracked from frontal videos of a single camera by DeepLabCut and accuracy was assessed against human labelling. Shoulder, elbow and wrist angles were calculated from 2DMMA and 3DMA (as gold standard) and correlated to assess concurrent validity.
View Article and Find Full Text PDFFrontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 cases and 3,153 controls, and meta-analysis with the Dementia-seq cohort, compiled from 26 institutions/brain banks in the United States, Europe and Australia. We confirm as the strongest overall FTLD-TDP risk factor and identify as a novel FTLD-TDP risk factor.
View Article and Find Full Text PDFIntroduction: Trunk motion during walking acts as a biomarker for decreased mobility and can differ between sexes. Knowing how age and sex affect trunk motion and energy conservation can help clinicians decide when and in whom to intervene with physiotherapy to prolong functional mobility.
Methods: A large sample of 138 able-bodied males and females in the age-categories 20-39 years, 40-59 years, 60-69 years, 70-79 years, and 80-89 years received a full-body 3D gait analysis.
Introduction: Spatiotemporal gait parameters, e.g., gait stride length, are measurements that are classically derived from instrumented gait analysis.
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