Characterization of pathogenic SORL1 genetic variants for association with Alzheimer’s disease: a clinical interpretation strategy
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/ejhg201787.pdf
Reference41 articles.
1. Alzheimer's Association: 2016 Alzheimer's disease facts and figures. Alzheimers Dement 2016; 12: 459–509.
2. Gatz M, Reynolds CA, Fratiglioni L et al: Role of genes and environments for explaining Alzheimer disease. Arch Gen Psychiatry 2006; 63: 168–174.
3. Pottier C, Hannequin D, Coutant S et al: High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease. Mol Psychiatry 2012; 17: 875–879.
4. Vardarajan BN, Zhang Y, Lee JH et al: Coding mutations in SORL1 and Alzheimer disease. Ann Neurol 2015; 77: 215–227.
5. Nicolas G, Charbonnier C, Wallon D et al: SORL1 rare variants: a major risk factor for familial early-onset Alzheimer's disease. Mol Psychiatry 2015; 21: 831–836.
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