A Pathogenic Variant p.Phe177Val in PSEN1 Causes Early-Onset Alzheimer’s Disease in a Chinese Family

PSEN1, PSEN2 , and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease

(2020) Longfei Jia et al.   Alzheimers & Dementia

Mutation profile of APP, PSEN1, and PSEN2 in Chinese familial Alzheimer's disease

(2019) Ying Gao et al.   NEUROBIOLOGY OF AGING

A cross-sectional study of inpatients with late stage of dementia in Southeast China and the associations between biochemical parameters and apolipoprotein E genotypes

(2018) Bin Jiang et al.   Clinical Interventions in Aging

Mutation screening in Chinese patients with familial Alzheimer's disease by whole-exome sequencing

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Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4D

(2017) Li-Xi Li et al.   HUMAN MUTATION

Decreased gene expression of CD2AP in Chinese patients with sporadic Alzheimer's disease

(2017) Qing-Qing Tao et al.   NEUROBIOLOGY OF AGING

Loss of stability and hydrophobicity of presenilin 1 mutations causing Alzheimer's disease

(2016) Arun Kumar Somavarapu et al.   JOURNAL OF NEUROCHEMISTRY

Neurological manifestations of autosomal dominant familial Alzheimer’s disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS)

(2016) Mengxuan Tang et al.   LANCET NEUROLOGY

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer’s disease: a case series

(2016) Natalie S Ryan et al.   LANCET NEUROLOGY

Seizures in dominantly inherited Alzheimer disease

(2016) Aline Zarea et al.   NEUROLOGY

Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase

(2016) Linfeng Sun et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

An atomic structure of human γ-secretase

(2015) Xiao-chen Bai et al.   NATURE

Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life

(2013) Lucrezia Hausner et al.   Alzheimers & Dementia

The Genetics of Alzheimer Disease

(2013) R. E. Tanzi   Cold Spring Harbor Perspectives in Medicine

Review Article: Genetics of Alzheimer Disease

(2010) Lynn M. Bekris et al.   JOURNAL OF GERIATRIC PSYCHIATRY AND NEUROLOGY

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

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