Broad phenotype of cysteine-altering NOTCH3 variants in UK Biobank: CADASIL to nonpenetrance

OBJECTIVE: To determine the small vessel disease spectrum associated with cysteine-altering NOTCH3 variants in community-dwelling individuals by analyzing the clinical and neuroimaging features of UK Biobank participants harboring such variants. METHODS: The exome and genome sequencing datasets of t...

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Bibliografske podrobnosti
izdano v:Neurology
Main Authors: Rutten, Julie W., Hack, Remco J., Duering, Marco, Gravesteijn, Gido, Dauwerse, Johannes G., Overzier, Maurice, van den Akker, Erik B., Slagboom, Eline, Holstege, Henne, Nho, Kwangsik, Saykin, Andrew, Dichgans, Martin, Malik, Rainer, Lesnik Oberstein, Saskia A.J.
Format: Artigo
Jezik:Inglês
Izdano: Lippincott Williams & Wilkins 2020
Teme:
Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7682826/
https://ncbi.nlm.nih.gov/pubmed/32732295
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000010525
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