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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Publicado no: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.
Formato: Artigo
Idioma:Inglês
Publicado em: Lippincott Williams & Wilkins 2020
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Article
Acesso em linha: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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