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Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephalyNARA Subscribed
Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic changes in the cytoskeleton are essential for this process, which is, inter alia, controlled by the dedicator of cytokinesis 4 ( DOCK4 ) through the activation of RAC1 . Here, we clinically describe 7...
Test–retest reliability of arterial spin labelling for cerebral blood flow in older adults with small vessel diseaseNARA Subscribed
Cerebral small vessel disease (SVD) is common in older people and is associated with lacunar stroke, white matter hyperintensities (WMH) and vascular cognitive impairment. Cerebral blood flow (CBF) is reduced in SVD, particularly within white matter. Here we quantified test–retest reliability in CBF measurements using pseudo-continuous arterial spin labelling (pCASL) in older adults with clinical and radiological evidence of S...
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