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Article
Decreased retinal vascular density is associated with cognitive impairment in CADASIL: an optical coherence tomography angiography study
This study aimed to assess alterations in retinal vascular density in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) patients using optical coherence tomog...
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Article
Diffusion prepared pseudo-continuous arterial spin labeling reveals blood–brain barrier dysfunction in patients with CADASIL
Diffusion prepared pseudo-continuous arterial spin labeling (DP-pCASL) is a newly proposed MRI method to noninvasively measure the function of the blood–brain barrier (BBB). We aim to investigate whether the w...
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Article
Open AccessBrain MRI correlations with disease burden and biomarkers in Fabry disease
To quantitatively evaluate cerebral small vessel disease (CSVD) in brain magnetic resonance imaging (MRI) and its correlation with disease burden and markers in Fabry disease, a rare X-linked lysosomal storage...
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Article
Clinical, muscle imaging, and genetic characteristics of dystrophinopathies with deep-intronic DMD variants
Phenotypic heterogeneity within or between families with a same deep-intronic splice-altering variant in the DMD gene has never been systematically analyzed. This study aimed to determine the phenotypic and genet...
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Article
Open AccessReport of cold agglutinins in a patient with acute ischemic stroke
Studies on the role of cold agglutinins in the pathogenesis of acute ischemic stroke are scarce. We present a case of an elderly man with acute cerebral infarction probably due to cold agglutinin disease.
