A novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family-Reference-Cited by-同舟云学术

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A novel mutation in the PSEN2 gene (N141Y) associated with early-onset autosomal dominant Alzheimer's disease in a Chinese Han family

Published:2014-10 Issue:10 Volume:35 Page:2420.e1-2420.e5
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Niu Fusheng,Yu Shanshan,Zhang Zhenxin,Yi Xin,Ye Lili,Tang Wei,Qiu Changchun,Wen Hongbo,Sun Yujing,Gao Jing,Guo Yupu

Funder

Chinese National Science and Technology Project

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Clinical Neurology,Ageing,General Neuroscience

Reference15 articles.

1. Locus-specific mutation databases for neurodegenerative brain diseases;Cruts;Hum. Mutat.,2012

2. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP;Guerreiro;Neurobiol. Aging,2010

3. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2;Jayadev;Brain,2010

4. Candidate gene for the chromosome 1 familial Alzheimer' disease locus;Levy-Lahad;Science,1995

5. dbNSFP: a lightweight database of human nonsynonymous SNPs and their functional predictions;Liu;Hum. Mutat.,2011

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1. A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer’s Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis;International Journal of Molecular Sciences;2024-09-06

2. PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer’s Disease: Data from PUMCH Dementia Cohort;Journal of Alzheimer's Disease;2022-06-14

3. White matter hyperintensities and patterns of atrophy in early onset Alzheimer’s disease with causative gene mutations;Clinical Neurology and Neurosurgery;2021-04

4. Genetic Aspects of Early-Onset Alzheimer’s Disease;The Molecular Immunology of Neurological Diseases;2021

5. Gene mutations associated with early onset familial Alzheimer’s disease in China: An overview and current status;Molecular Genetics & Genomic Medicine;2020-08-06

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