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Research article

First published 2011-7-8

A Novel Pathogenic PSEN1 Mutation in a Family with Alzheimer's Disease: Phenotypical and Neuropathological Features

Maura Gallo, Norina Marcello, Sabrina A.M. Curcio [...]

Journal of Alzheimer’s Disease

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Research article

First published 2026

Differential effects of PSEN1 mutations (p.P117L with ataxia and p.P264L without ataxia) in early-onset Alzheimer's disease

Pengbo Gao, Ben Chen, Danyan Xu [...]

Journal of Alzheimer’s Disease

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Brief report

First published 2013-9-9

Role of TOMM40 rs10524523 Polymorphism in Onset of Alzheimer's Disease Caused by the PSEN1 M146L Mutation

Livia Bernardi, Maura Gallo, Maria Anfossi [...]

Journal of Alzheimer’s Disease

Free access

Research article

First published 2009-2

Clinical Picture of a Patient With a Novel PSEN1 Mutation (L424V)

A. Robles, M.J. Sobrido, M. García-Murias [...]

American Journal of Alzheimer's Disease & Other Dementias®

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Research article

First published 2012-6-4

PSEN1 Mutation Carriers Present Lower Cerebrospinal Fluid Amyoid-β 42 Levels than Sporadic Early-Onset Alzheimer's Disease Patients but no Differences in Neuronal Injury Biomarkers

Mircea Balasa, Didac Vidal-Piñeiro, Albert Lladó [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2022-12-06

Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation

Sylwia Libard, Vilmantas Giedraitis, Lena Kilander [...]

Journal of Alzheimer’s Disease

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Brief report

First published 2014-7-16

A Novel PSEN1 Mutation in a Patient with Sporadic Early-Onset Alzheimer's Disease and Prominent Cerebellar Ataxia

Silvia Testi, Silvio Peluso, Gian Maria Fabrizi [...]

Journal of Alzheimer’s Disease

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Brief report

First published 2022-01-04

Very Early-Onset Alzheimer’s Disease in the Third Decade of Life with de novo PSEN1 Mutations

Ke-Liang Chen, Pei-Xi Li, Yi-Min Sun [...]

Journal of Alzheimer’s Disease

Open access

Research article

First published 2013-3-29

Genetic Influences on Atrophy Patterns in Familial Alzheimer's Disease: A Comparison of APP and PSEN1 Mutations

Rachael I. Scahill, Gerard R. Ridgway, Jonathan W. Bartlett [...]

Journal of Alzheimer’s Disease

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Brief report

First published 2019-07-02

Frontal Variant of Alzheimer’s Disease: A Report of a Novel PSEN1 Mutation

Fiammetta Monacelli, Lucia Martella, Maria Nives Parodi [...]

Journal of Alzheimer’s Disease

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