(Q44444462)

3 December 2017

title

Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study (English)

1 reference

3 December 2017

Early‐onset Alzheimer's disease with presenilin‐1 M139V mutation: clinical, neuropsychological and neuropathological study (English)

1 reference

https://api.crossref.org/works/10.1046/J.1468-1331.2003.00597.X

3 January 2024

0 references

1 reference

early-onset Alzheimer's disease

1 reference

1 reference

https://api.crossref.org/works/10.1046/J.1468-1331.2003.00597.X

3 January 2024

author name string

A. J. Larner

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12752408

3 January 2024

D. G. du Plessis

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A12752408

3 January 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12752408

3 January 2024

publication date

1 May 2003

1 reference

full work available at URL

3 December 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046%2Fj.1468-1331.2003.00597.x

1 reference

https://api.crossref.org/works/10.1046/J.1468-1331.2003.00597.X

https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1468-1331.2003.00597.x

3 January 2024

1 reference

https://api.crossref.org/works/10.1046/J.1468-1331.2003.00597.X

European Journal of Neurology

3 January 2024

published in

1 reference

3 December 2017

volume

10

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3 December 2017

issue

3

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3 December 2017

page(s)

319-323

1 reference

Neuropathological stageing of Alzheimer-related changes

3 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2003.00597.X

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

21 January 2018

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High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2003.00597.X

Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene. Pedigree but not mutation specific age at onset provides evidence for a further genetic factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2003.00597.X

The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1468-1331.2003.00597.X

A 50-year perspective of a family with chromosome-14-linked Alzheimer's disease

21 January 2018

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Early-onset Alzheimer's disease due to mutations of the presenilin-1 gene on chromosome 14: a 7-year follow-up of a patient with a mutation at codon 139.

21 January 2018

1 reference

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Autopsy-confirmed familial early-onset Alzheimer disease caused by the l153V presenilin 1 mutation

21 January 2018

1 reference

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The Consortium to Establish a Registry for Alzheimer's Disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease

21 January 2018

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

21 January 2018

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Variable phenotype of Alzheimer's disease with spastic paraparesis.

21 January 2018

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Variant Alzheimer disease with spastic paraparesis: neuropathological phenotype

21 January 2018

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Novel presenilin-1 mutation with widespread cortical amyloid deposition but limited cerebral amyloid angiopathy

21 January 2018

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

21 January 2018

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Mutation analysis of presenillin 1 gene in Alzheimer's disease.

3 January 2024

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Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

3 January 2024

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De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

3 January 2024

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

3 January 2024

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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

3 January 2024

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

3 January 2024

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The Cerebellum in Alzheimer's Disease

3 January 2024

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The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology

3 January 2024

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

3 January 2024

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Consensus Recommendations for the Postmortem Diagnosis of Alzheimer’s Disease

3 January 2024

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Missense mutations of the PS-1/S182 gene in German early-onset Alzheimer's disease patients.

3 January 2024

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Neuropsychological profiles of familial Alzheimer's disease associated with mutations in the presenilin 1 and amyloid precursor protein genes

3 January 2024

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https://api.crossref.org/works/10.1046/J.1468-1331.2003.00597.X

3 January 2024

Identifiers

1 reference

3 December 2017

1 reference