Screening of amyloid precursor protein gene mutation (APP 717 Val → Ile) in Swedisch families with Alzheimer's disease-Reference-Cited by-同舟云学术

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Screening of amyloid precursor protein gene mutation (APP 717 Val → Ile) in Swedisch families with Alzheimer's disease

Published:1993-06 Issue:2 Volume:6 Page:151-156
ISSN:0936-3076
Container-title:Journal of Neural Transmission - Parkinson's Disease and Dementia Section
language:en
Short-container-title:J Neural Transm Gen Sect

Author:

Almqvist E.,Lake S.,Axelman K.,Johansson K.,Winblad B.

Publisher

Springer Science and Business Media LLC

Subject

Biological Psychiatry,Psychiatry and Mental health,Clinical Neurology,Neurology,Clinical Neurology,General Neuroscience

Link

http://link.springer.com/content/pdf/10.1007/BF02261009.pdf

Reference21 articles.

1. Chartier-Harlin M-C, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, Mullan M (1991a) Early-onset Alzheimer's disease caused by mutations at codon 717 of the β-amyloid precursor protein gene. Nature 353: 844–846

2. Chartier-Harlin M-C, Crawford F, Hamandi K, Mullan M, Goate A, Hardy J, Backhovens H, Martin J-J, Van Broeckhoven C (1991b) Screening for the β-amyloid precursor protein mutation (APP717: Val → Ile) in extended pedigrees with early onset Alzheimer's disease. Neurosci Lett 129: 134–135

3. Crawford F, Hardy J, Mullan M, Goate A, Hughes D, Fidani L, Roques P, Rossor M, Chartier-Harlin M-C (1991) Sequencing of exons 16 and 17 of the β-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the β-amyloid sequence. Neurosci Lett 133: 1–2

4. Fidani L, Rooke K, Chartier-Harlin M-C, Hughes D, Tanzi R, Mullan M, Roques P, Rossor M, Hardy J, Goate A (1992) Screening for mutations in the open reading frame and promoter of the β-amyloid precursor protein gene in familial Alzheimer's disease: identification of a further family with APP717 Val → Ile. Hum Mol Genet 1: 165–168

5. Goate A, Chartier-Harlin M-C, Mullan M, Brown J, Crawford F, Fidani L, Giuffra L, Haynes A, Irving M, James L, Mant R, Newton P, Rooke K, Roques P, Talbot C, Pericak-Vance M, Roses A, Williamson R, Rossor M, Owen M, Hardy J (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature 349: 704–706

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1. Genetic Phenotypes of Alzheimer’s Disease: Mechanisms and Potential Therapy;Phenomics;2023-04-03

2. Gene × environment interaction by a longitudinal epigenome-wide association study (LEWAS) overcomes limitations of genome-wide association study (GWAS);Epigenomics;2012-12

3. Animal Models of Amyloid/PS-1 Pathology;Animal Models for Neurodegenerative Disease;2011-05-24

4. Screening for amyloid beta precursor protein codon 665, and 717 mutations in Finnish patients with Alzheimer's disease;Neuroscience Letters;1996-02

5. Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: Evidence for early up-regulation of the endosomal-lysosomal system;Neuron;1995-03

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