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
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
Genetics of intracerebral hemorrhage.
Kimball TN et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025
Biological function of Aβ peptides revealed by analysis of membrane-association properties: Implications for Azheimer's disease pathogenesis.
Kim M et al.
Biochemical and Biophysical Research Communications, 2024
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 2023
Interaction of Proteins Involved in Neuronal Proteinopathies.
Kulichikhin KY et al.
Life (basel, Switzerland), 2023
Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.
Abondio P et al.
International Journal of Molecular Sciences, 2022
Main features of hereditary cerebral amyloid angiopathies: A systematic review.
Biffi A
Cerebral Circulation - Cognition and Behavior, 2022
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Hereditary cerebral amyloid angiopathy, Piedmont-type mutation.
Kozberg MG et al.
Neurology. Genetics, 2020
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Bi C et al.
Aging and Disease, 2019
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.
Tcw J et al.
Cold Spring Harbor Perspectives in Medicine, 2017
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
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
Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
Kamp JA et al.
Reviews in the Neurosciences, 2014
Hereditary and sporadic beta-amyloidoses.
Di Fede G et al.
Frontiers in Bioscience (landmark Edition), 2013
Good gene, bad gene: new APP variant may be both.
Di Fede G et al.
Progress in Neurobiology, 2012
APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.
Moro ML et al.
Acta Neuropathologica, 2012
APOE and AβPP gene variation in cortical and cerebrovascular amyloid-β pathology and Alzheimer's disease: a population-based analysis.
Peuralinna T et al.
Journal of Alzheimer's Disease : Jad, 2011
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.
Giaccone G et al.
Acta Neuropathologica, 2010
Hereditary and sporadic forms of abeta-cerebrovascular amyloidosis and relevant transgenic mouse models.
Kumar-Singh S
International Journal of Molecular Sciences, 2009
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 2009
Cerebral amyloid angiopathy: pathogenetic mechanisms and link to dense amyloid plaques.
Kumar-Singh S
Genes, Brain, and Behavior, 2008
Phenotype associated with APP duplication in five families.
Cabrejo L et al.
Brain : a Journal of Neurology, 2006
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
Theuns J et al.
Human Mutation, 2006
[Recurrent intraparenchimal haemorrhages in a patient with cerebral amyloidotic angiopathy: description of one autopsy case].
Gallo C et al.
Pathologica, 2006
Dominant form of vanishing white matter-like leukoencephalopathy.
Labauge P et al.
Annals of Neurology, 2005
A novel AbetaPP mutation exclusively associated with cerebral amyloid angiopathy.
Obici L et al.
Annals of Neurology, 2005
[Dominant forms of Alzheimer's disease: from genotype to phenotype].
Hannequin D et al.
Revue Neurologique, 2001