SORL1 mutations in early- and late-onset Alzheimer disease

OBJECTIVE: To characterize the clinical and molecular effect of mutations in the sortilin-related receptor (SORL1) gene. METHODS: We performed whole-exome sequencing in early-onset Alzheimer disease (EOAD) and late-onset Alzheimer disease (LOAD) families followed by functional studies of select vari...

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Vydáno v:Neurol Genet
Hlavní autoři: Cuccaro, Michael L., Carney, Regina M., Zhang, Yalun, Bohm, Christopher, Kunkle, Brian W., Vardarajan, Badri N., Whitehead, Patrice L., Cukier, Holly N., Mayeux, Richard, St. George-Hyslop, Peter, Pericak-Vance, Margaret A.
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5082932/
https://ncbi.nlm.nih.gov/pubmed/27822510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000116
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