(Q43622352)

25 November 2017

Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype (English)

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25 November 2017

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1 reference

Verkkoniemi A

1

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25 November 2017

Kalimo H

2

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25 November 2017

Paetau A

3

1 reference

25 November 2017

Somer M

4

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25 November 2017

Iwatsubo T

5

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25 November 2017

Hardy J

6

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25 November 2017

Haltia M

7

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25 November 2017

language of work or name

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1 May 2001

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Journal of Neuropathology & Experimental Neurology

25 November 2017

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25 November 2017

60

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25 November 2017

5

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25 November 2017

483-492

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

25 November 2017

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

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/10.1093%2FJNEN%2F60.5.483

Pathological changes in the brain of a patient with familial Alzheimer's disease having a missense mutation at codon 717 in the amyloid precursor protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the beta-amyloid precursor protein gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Familial and sporadic Alzheimer's disease: neuropathology cannot exclude a final common pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala-->Gly mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Chromosome 14-encoded Alzheimer's disease: genetic and clinicopathological description.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Clinical features of early-onset Alzheimer disease in a large kindred with an E280A presenilin-1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Alzheimer disease PS-1 exon 9 deletion defined.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Neuropathological stageing of Alzheimer-related changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Variable phenotype of Alzheimer's disease with spastic paraparesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Alzheimer's disease: a description of the structural lesions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Cytoskeletal pathology in familial cerebral amyloid angiopathy (British type) with non-neuritic amyloid plaque formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

A stop-codon mutation in the BRI gene associated with familial British dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Differences between vascular and plaque core amyloid in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Cell death or synaptic loss in Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Plaque-induced neurite abnormalities: implications for disruption of neural networks in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Primary motor cortex involvement in Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Cerebral amyloid angiopathy: incidence and complications in the aging brain. I. Cerebral hemorrhage.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Amyloid, the presenilins and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Monster plaques: what they tell us about Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F60.5.483

21 January 2018

Identifiers

DOI

10.1093/JNEN/60.5.483

1 reference

25 November 2017

1 reference