Title |
SORL1 variants across Alzheimer’s disease European American cohorts
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Published in |
European Journal of Human Genetics, September 2016
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DOI | 10.1038/ejhg.2016.122 |
Pubmed ID | |
Authors |
Maria Victoria Fernández, Kathleen Black, David Carrell, Ben Saef, John Budde, Yuetiva Deming, Bill Howells, Jorge L Del-Aguila, Shengmei Ma, Catherine Bi, Joanne Norton, Rachel Chasse, John Morris, Alison Goate, Carlos Cruchaga |
Abstract |
The accumulation of the toxic Aβ peptide in Alzheimer's disease (AD) largely relies upon an efficient recycling of amyloid precursor protein (APP). Recent genetic association studies have described rare variants in SORL1 with putative pathogenic consequences in the recycling of APP. In this work, we examine the presence of rare coding variants in SORL1 in three different European American cohorts: early-onset, late-onset AD (LOAD) and familial LOAD.European Journal of Human Genetics advance online publication, 21 September 2016; doi:10.1038/ejhg.2016.122. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 1 | 2% |
Unknown | 42 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 7 | 16% |
Student > Bachelor | 7 | 16% |
Student > Ph. D. Student | 4 | 9% |
Student > Master | 4 | 9% |
Professor > Associate Professor | 3 | 7% |
Other | 7 | 16% |
Unknown | 11 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 8 | 19% |
Neuroscience | 8 | 19% |
Biochemistry, Genetics and Molecular Biology | 6 | 14% |
Medicine and Dentistry | 5 | 12% |
Mathematics | 1 | 2% |
Other | 4 | 9% |
Unknown | 11 | 26% |