A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer’s Disease Increases Aβ42/Aβ40 ratio

The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers

(2018) David Wallon et al.   JOURNAL OF ALZHEIMERS DISEASE

Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer’s Disease

(2018) Ning Tang et al.   JOURNAL OF ALZHEIMERS DISEASE

Neurons derived from sporadic Alzheimer’s disease iPSCs reveal elevated TAU hyperphosphorylation, increased amyloid levels, and GSK3B activation

(2017) Anna Ochalek et al.   Alzheimers Research & Therapy

Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants

(2016) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The amyloid hypothesis of Alzheimer's disease at 25 years

(2016) Dennis J Selkoe et al.   EMBO Molecular Medicine

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences

(2016) Yat-Fung Shea et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

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

CSF Aβ42/Aβ40 and Aβ42/Aβ38 ratios: better diagnostic markers of Alzheimer disease

(2016) Shorena Janelidze et al.   Annals of Clinical and Translational Neurology

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

Trafficking and Proteolytic Processing of APP

(2013) C. Haass et al.   Cold Spring Harbor Perspectives in Medicine

Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells

(2012) Mason A. Israel et al.   NATURE

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

(2012) Sheng Jin et al.   Alzheimers Research & Therapy

Mechanisms of AD neurodegeneration may be independent of Aβ and its derivatives

(2010) Nikolaos K. Robakis   NEUROBIOLOGY OF AGING

Presenilin 1 gene mutation (M139I) in a patient with an early-onset Alzheimer’s disease: clinical characteristics and genetic identification

(2010) Hee-Jin Kim et al.   NEUROLOGICAL SCIENCES

Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation

(2010) John M. Ringman et al.   NEUROSCIENCE LETTERS

Amyloid-β protein dimers isolated directly from Alzheimer's brains impair synaptic plasticity and memory

(2008) Ganesh M Shankar et al.   NATURE MEDICINE

APOE  4 allele predicts faster cognitive decline in mild Alzheimer disease

(2008) S. Cosentino et al.   NEUROLOGY