Associated Papers
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Dominantly inherited Alzheimer's disease in Latin America: Genetic heterogeneity and clinical phenotypes.
Llibre-Guerra JJ et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
A pathogenic PSEN1 Trp165Cys mutation associated with early-onset Alzheimer's disease.
Van Giau V et al.
Bmc Neurology, 2019
Longitudinal measurement of serum neurofilament light in presymptomatic familial Alzheimer's disease.
Weston PSJ et al.
Alzheimer's Research & Therapy, 2019
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Serum neurofilament light in familial Alzheimer disease: A marker of early neurodegeneration.
Weston PSJ et al.
Neurology, 2017
Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia.
Park J et al.
Neurobiology of Aging, 2017
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Magnetic resonance imaging evidence for presymptomatic change in thalamus and caudate in familial Alzheimer's disease.
Ryan NS et al.
Brain : a Journal of Neurology, 2013
Carbon-11-Pittsburgh compound B positron emission tomography imaging of amyloid deposition in presenilin 1 mutation carriers.
Knight WD et al.
Brain : a Journal of Neurology, 2011
Linear patterns of Alzheimer's disease mutations along alpha-helices of presenilins as a tool for PS-1 model construction.
Jozwiak K et al.
Journal of Neurochemistry, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Early onset familial Alzheimer's disease: Mutation frequency in 31 families.
Janssen JC et al.
Neurology, 2003
A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
Athan ES et al.
Jama, 2001
Presenilin mutations line up along transmembrane alpha-helices.
Hardy J et al.
Neuroscience Letters, 2001
Presenilin structure, function and role in Alzheimer disease.
Fraser PE et al.
Biochimica Et Biophysica Acta, 2000
DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.
Aldudo J et al.
Human Mutation, 1999
A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.
Ramirez-Dueñas MG et al.
Annales De Genetique, 1998
Genetics of dementia: insights from Latin America.
Ramos C et al.
Dementia & Neuropsychologia, 0