(Q48413505)

11 February 2018

title

Clinical and neuropathological findings in a patient with familial Alzheimer disease showing a mutation in the PSEN1 gene (English)

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11 February 2018

early-onset autosomal dominant Alzheimer disease

main subject

Alzheimer's disease

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Atsushi Niwa

1

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11 February 2018

Ko Matsuo

2

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11 February 2018

Akihiro Shindo

3

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11 February 2018

Kenichiro Yata

4

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11 February 2018

Taizo Shiraishi

5

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11 February 2018

Hidekazu Tomimoto

6

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11 February 2018

publication date

12 August 2012

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11 February 2018

published in

Neuropathology

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11 February 2018

volume

33

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11 February 2018

issue

2

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11 February 2018

page(s)

199-203

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11 February 2018

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

A familial Alzheimer's disease locus on chromosome 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Variable phenotype of Alzheimer's disease with spastic paraparesis.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Alzheimer's disease with spastic paresis and cotton wool type plaques

21 January 2018

1 reference

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Variability and heterogeneity in Alzheimer's disease with cotton wool plaques: a clinicopathological study of four autopsy cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Brain pathology in three subjects from the same pedigree with presenilin-1 (PSEN1) P264L mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis

21 January 2018

1 reference

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Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees

21 January 2018

1 reference

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PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Two types of sporadic cerebral amyloid angiopathy.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

The genetics and molecular pathology of Alzheimer's disease: roles of amyloid and the presenilins

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Microvasculature changes and cerebral amyloid angiopathy in Alzheimer's disease and their potential impact on therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

Relative paucity of tau accumulation in the small areas with abundant Abeta42-positive capillary amyloid angiopathy within a given cortical region in the brain of patients with Alzheimer pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1440-1789.2012.01340.X

10.1111/J.1440-1789.2012.01340.X

21 January 2018

Identifiers

DOI

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11 February 2018

1 reference

11 February 2018