Sage Journals: Discover world-class research

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Review article

First published 2013-10-10

Presenilin-1 Mutations in Alzheimer's Disease: An Update on Genotype-Phenotype Relationships

A.J. Larner

Journal of Alzheimer’s Disease

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Research article

First published 2005

One novel presenilin-1 gene mutation in a Chinese pedigree of familial Alzheimer's disease

Jianping Jia, Erhe Xu, Yankun Shao [...]

Journal of Alzheimer’s Disease

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Research article

First published 2010-1-28

Clinical-Genetic Correlations in Familial Alzheimer's Disease Caused by Presenilin 1 Mutations

Estrella Gómez-Tortosa, Sagrario Barquero, Manuel Barón [...]

Journal of Alzheimer’s Disease

Free access

Research article

First published 2003-5

Neuropsychological stydy of familial Alzheimer's disease caused by mutation E280A in the presenilin 1 gene

Juan Carlos Arango Lasprilla, Jaime Iglesias, Francisco Lopera

American Journal of Alzheimer's Disease & Other Dementias®

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Brief report

First published 2009

CSF Studies Facilitate DNA Diagnosis in Familial Alzheimer's Disease Due to a Presenilin-1 Mutation

Susanne T. de Bot, H.P.H. Kremer, Dennis Dooijes [...]

Journal of Alzheimer’s Disease

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Research article

First published 2004

A novel highly pathogenic Alzheimer presenilin-1 mutation in codon 117 (Pro117Ser): Comparison of clinical,neuropathological and cell culture phenotypes of Pro117Leu and Pro117Ser mutations

Wieslaw K. Dowjat, Izabela Kuchna, Thomas Wisniewski [...]

Journal of Alzheimer’s Disease

Open access

Brief report

First published 2014-1-7

A Novel p.Leu(381)Phe Mutation in Presenilin 1 is Associated with Very Early Onset and Unusually Fast Progressing Dementia as well as Lysosomal Inclusions Typically Seen in Kufs Disease

Natalia Dolzhanskaya, Michael A. Gonzalez, Fiorella Sperziani [...]

Journal of Alzheimer’s Disease

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Research article

First published 2000-4-1

DNA Damage does not Correlate with Amyloid-ß-Plaques and Neurofibrillary Tangles in Familial Alzheimer's Disease Presenilin-1 [E280A] Mutation *

C. Velez-Pardo, F. Lopera, M. Jimenez Del Rio

Journal of Alzheimer’s Disease

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Research article

First published 2026-3

A novel presenilin 1 nucleotide mutation (M139I) and its pathological function in a Chinese family with early-onset Alzheimer’s disease

Xuening Li, Yameng Zhang, Xinyan Shi [...]

Journal of Alzheimer’s Disease

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Research article

First published 2004

Pathological and clinical heterogeneity of presenilin 1 gene mutations

Manuel Menéndez

Journal of Alzheimer’s Disease

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