Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
CSF proteomics in autosomal dominant Alzheimer's disease highlights parallels with sporadic disease.
van der Ende EL et al.
Brain : a Journal of Neurology, 2023
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.
Guyon A et al.
Plos One, 2020
Modeling Alzheimer's Disease by Induced Pluripotent Stem Cells Carrying APP D678H Mutation.
Chang KH et al.
Molecular Neurobiology, 2019
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Bi C et al.
Aging and Disease, 2019
Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.
Xu TH et al.
Cell Discovery, 2016
Neuropathology and biochemistry of Aβ and its aggregates in Alzheimer's disease.
Thal DR et al.
Acta Neuropathologica, 2015
Differential regulation of amyloid precursor protein sorting with pathological mutations results in a distinct effect on amyloid-β production.
Lin YC et al.
Journal of Neurochemistry, 2014
A novel APP mutation (D678H) in a Taiwanese patient exhibiting dementia and cerebral microvasculopathy.
Lan MY et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2014
Early onset Alzheimer's disease and oxidative stress.
Meraz-Ríos MA et al.
Oxidative Medicine and Cellular Longevity, 2014
Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
Kamp JA et al.
Reviews in the Neurosciences, 2014
Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.
Weggen S et al.
Alzheimer's Research & Therapy, 2012
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
Theuns J et al.
Human Mutation, 2006
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
Wakutani Y et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC et al.
Neurology, 2003
Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease.
Kowalska A
Folia Neuropathologica, 2003
Sequence variants of DLC1 in colorectal and ovarian tumours.
Wilson PJ et al.
Human Mutation, 2000