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
Cryo-EM structures of cotton wool plaques' amyloid β and of tau filaments in dominantly inherited Alzheimer disease.
Hoq MR et al.
Acta Neuropathologica, 2024
Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias.
Aloisio S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Cryo-EM structures of amyloid-β filaments with the Arctic mutation (E22G) from human and mouse brains.
Yang Y et al.
Acta Neuropathologica, 2023
Presenilin-1 F105C mutation leads to tau accumulation in human neurons via the Akt/mTORC1 signaling pathway.
Chong CM et al.
Cell & Bioscience, 2022
Cryo-EM structures of amyloid-β 42 filaments from human brains.
Yang Y et al.
Science (new York, N.y.), 2022
PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.
Orozco-Barajas M et al.
Frontiers in Aging Neuroscience, 2022
Genetic Insights into Alzheimer's Disease.
Latimer CS et al.
Annual Review of Pathology, 2021
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q et al.
Molecular Genetics & Genomic Medicine, 2020
Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer's Disease.
Bagyinszky E et al.
Diagnostics (basel, Switzerland), 2020
PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.
Jia L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020
Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T).
Jo H et al.
Journal of Alzheimer's Disease : Jad, 2019
[Presenilin 1 p. F105L mutation was associated with a Chinese pedigree with early-onset familial Alzheimer's disease].
Wei K et al.
Zhonghua Yi Xue Za Zhi, 2018
Neuropathology and biochemistry of early onset familial Alzheimer's disease caused by presenilin-1 missense mutation Thr116Asn.
Sutovsky S et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2018
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
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.
Deng B et al.
Neurotoxicity Research, 2014
Mutational analysis in early-onset familial Alzheimer's disease in Mainland China.
Jiao B et al.
Neurobiology of Aging, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2010
Caspase-6 activation in familial alzheimer disease brains carrying amyloid precursor protein or presenilin i or presenilin II mutations.
Albrecht S et al.
Journal of Neuropathology and Experimental Neurology, 2009
Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.
Larner AJ et al.
Journal of Alzheimer's Disease : Jad, 2009
Histopathological and molecular heterogeneity among individuals with dementia associated with Presenilin mutations.
Maarouf CL et al.
Molecular Neurodegeneration, 2008
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.
Takao M et al.
Acta Neuropathologica, 2002
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
Finckh U et al.
American Journal of Human Genetics, 2000
High frequency of mutations in four different disease genes in early-onset dementia.
Finckh U et al.
Annals of the New York Academy of Sciences, 2000