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
39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf
Conformational Models of APP Processing by Gamma Secretase Based on Analysis of Pathogenic Mutations.
Kim M et al.
International Journal of Molecular Sciences, 2021
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 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
Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.
Wang C et al.
Cell Reports, 2018
Low Florbetapir PET Uptake and Normal Aβ1-42 Cerebrospinal Fluid in an APP Ala713Thr Mutation Carrier.
Lombardi G et al.
Journal of Alzheimer's Disease : Jad, 2017
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
A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Harris SE et al.
Bmc Genetics, 2007
17601350 (PubMed )
Supplement: 1471-2156-8-43-S1.doc
A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
Rossi G et al.
Neurology, 2004
Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
Arango D et al.
American Journal of Medical Genetics, 2001
Failure to find linkage between schizophrenia and genetic markers on chromosome 21.
Asherson P et al.
American Journal of Medical Genetics, 1993
Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia.
Jones CT et al.
Nature Genetics, 1992
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