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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Publié dans:Neurology
Auteurs principaux: 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
Langue:Inglês
Publié: Lippincott Williams & Wilkins 2020
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Article
Accès en ligne: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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