A novel PSEN1 mutation (K239N) associated with Alzheimer’s disease with wide range age of onset and slow progression
Author:
Publisher
Wiley
Subject
Clinical Neurology,Neurology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1468-1331.2010.02949.x/fullpdf
Reference7 articles.
1. Alzheimer Disease & Frontotemporal Dementia Mutation Database http://www.molgen.ua.ac.be/admutacions/
2. Clinical phenotypic heterogeneity of Alzheimer’s disease associated with mutations of the presenilin-1 gene;Larner;J Neurol,2006
3. Variant Alzheimer’s disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations;Houlden;Ann Neurol,2000
4. Emotional reactions to predictive testing in alzheimer′s disease and other inherited dementias;Molinuevo;Am J Alzheimers Dis Other Demen,2005
5. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease;Cruts;Hum Mol Genet,1998
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1. A novel mutation in PSEN1 (p.T119I) in an Argentine family with early- and late-onset Alzheimer's disease;Neurobiology of Aging;2020-01
2. Resistance to autosomal dominant Alzheimer’s disease in an APOE3 Christchurch homozygote: a case report;Nature Medicine;2019-11
3. Reduced penetrance of the PSEN1 H163Y autosomal dominant Alzheimer mutation: a 22-year follow-up study;Alzheimer's Research & Therapy;2018-05-10
4. Investigation;Dementia in Clinical Practice: A Neurological Perspective;2018
5. Widespread white matter and conduction defects in PSEN1-related spastic paraparesis;Neurobiology of Aging;2016-11
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