Correlating familial Alzheimer’s disease gene mutations with clinical phenotype

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Amyloid Angiopathy and Variability in Amyloid β Deposition Is Determined by Mutation Position in Presenilin-1-Linked Alzheimer’s Disease

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Lewy Body Pathology in Familial Alzheimer Disease: Evidence for Disease- and Mutation-Specific Pathologic Phenotype

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Dementia with prominent frontotemporal features associated with L113P presenilin 1 mutation

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Novel Presenilin 1 Mutation (S170F) Causing Alzheimer Disease With Lewy Bodies in the Third Decade of Life

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The Cerebellum in Alzheimer's Disease

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Clinical and Neuropathological Features of the Arctic APP Gene Mutation Causing Early-Onset Alzheimer Disease

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Genotype and phenotype in Alzheimer's disease

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Mutations in progranulin explain atypical phenotypes with variants in MAPT

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Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease

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Variant Alzheimer’s disease with spastic paraparesis

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A mutant PSEN1 causes dementia with lewy bodies and variant Alzheimer's disease

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A Pathogenic Presenilin-1 Deletion Causes Abberrant Aβ42 Production in the Absence of Congophilic Amyloid Plaques

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Early‐onset Alzheimer's disease in 2 large Belgian families

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A novel presenilin 1 mutation resulting in familial Alzheimerʼs disease with an onset age of 29 years

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Familial Frontotemporal Dementia Associated with a Novel Presenilin-1 Mutation

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Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: An update

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A novel PSEN2 mutation associated with a peculiar phenotype

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The Natural History of Alzheimer Disease

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Presenilin 1 Mutation in an African American Family Presenting With Atypical Alzheimer Dementia

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Association of a Presenilin 1 S170F Mutation With a Novel Alzheimer Disease Molecular Phenotype

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A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances

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A presenilin 1 R278I mutation presenting with language impairment

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A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies

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Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?

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A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy

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A Novel Italian Presenilin 2 Gene Mutation with Prevalent Behavioral Phenotype

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Ataxic variant of Alzheimer's disease caused by Pro117Ala PSEN1 mutation

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A Two Decade Contribution of Molecular Cell Biology to the Centennial of Alzheimer's Disease: Are We Progressing Toward Therapy?

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PSEN1 polymorphisms alter the rate of cognitive decline in sporadic Alzheimer's disease patients

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