(Q36317683)

English

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

scientific article

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scholarly article

1 reference

Europe PubMed Central

13 August 2017

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 (English)

1 reference

Europe PubMed Central

13 August 2017

Alzheimer's disease

0 references

author name string

Harvey RJ

1

1 reference

Europe PubMed Central

13 August 2017

Ellison D

2

1 reference

Europe PubMed Central

13 August 2017

Hardy J

3

1 reference

Europe PubMed Central

13 August 2017

Hutton M

4

1 reference

Europe PubMed Central

13 August 2017

Roques PK

5

1 reference

Europe PubMed Central

13 August 2017

Collinge J

6

1 reference

Europe PubMed Central

13 August 2017

Fox NC

7

1 reference

Europe PubMed Central

13 August 2017

Rossor MN

8

1 reference

Europe PubMed Central

13 August 2017

language of work or name

0 references

publication date

1 January 1998

1 reference

Europe PubMed Central

13 August 2017

Journal of Neurology, Neurosurgery and Psychiatry

1 reference

Europe PubMed Central

13 August 2017

64

1 reference

Europe PubMed Central

13 August 2017

44-49

1 reference

Europe PubMed Central

13 August 2017

1

1 reference

Europe PubMed Central

13 August 2017

The presenilin genes: a new gene family involved in Alzheimer disease pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

Molecular pathology of Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

Phenotype of chromosome 14-linked familial Alzheimer's disease in a large kindred

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

Alzheimer's disease: implications of genetic studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

A yeast artificial chromosome contig from human chromosome 14q24 spanning the Alzheimer's disease locus AD3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

“Mini-mental state”

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

30 September 2017

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

Complete analysis of the presenilin 1 gene in early onset Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

Beta A4 protein deposition in familial Alzheimer's disease with the mutation in codon 717 of the beta A4 amyloid precursor protein gene and sporadic Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

Chromosome 14 linked familial Alzheimer's disease. A clinico-pathological study of a single pedigree.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

Familial Alzheimer disease: a large, multigeneration German kindred.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

Familial Alzheimer's disease with the amyloid precursor protein position 717 mutation and sporadic Alzheimer's disease have the same cytoskeletal pathology.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

29 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

22 September 2018

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

22 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

22 September 2018

Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

22 September 2018

Familial Alzheimer's chromosome 14 mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

22 September 2018

Presenilins and Alzheimer disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

22 September 2018

A new clinical scale for the staging of dementia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

22 September 2018

Transmission and age-at-onset patterns in familial Alzheimer's disease: evidence for heterogeneity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2169918

22 September 2018

Misserise mutation of S182 gene in Italian families with early-onset Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9436726

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutation of S182 gene in Japanese familial Alzheimer's disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9436726

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterogeneity in dementia of the Alzheimer type: evidence of subgroups

1 reference

https://pubmed.ncbi.nlm.nih.gov/9436726

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JNNP.64.1.44

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

1 reference

Europe PubMed Central

13 August 2017

ResearchGate publication ID

0 references

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