The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation

INTRODUCTION: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, leading to toxic NOTCH3 protein accumulation in the small- to medium sized arterioles. The accumulation is s...

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Vydáno v:Acta Neuropathol Commun
Hlavní autoři: Rutten, Julie W., Klever, Roselin R., Hegeman, Ingrid M., Poole, Dana S., Dauwerse, Hans G., Broos, Ludo A. M., Breukel, Cor, Aartsma-Rus, Annemieke M., Verbeek, J. Sjef, van der Weerd, Louise, van Duinen, Sjoerd G., van den Maagdenberg, Arn M. J. M., Lesnik Oberstein, Saskia A. J.
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4696336/
https://ncbi.nlm.nih.gov/pubmed/26715087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40478-015-0268-1
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