(Q38806182)

6 September 2017

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series (English)

1 reference

6 September 2017

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Rita Guerreiro

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Martin Rossor

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

5

Tammaryn Lashley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

13

Janice Holton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

author name string

Natalie S Ryan

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Philip S J Weston

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Yuying Liang

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Gary Adamson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Janna Kenny

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Jon Beck

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Lucia Chavez-Gutierrez

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Bart de Strooper

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Tamas Revesz

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Simon Mead

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

Nick C Fox

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

publication date

21 October 2016

1 reference

6 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

issue

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

page(s)

1326-1335

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

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

3 June 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Correlating familial Alzheimer's disease gene mutations with clinical phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Posterior cortical atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Early onset familial Alzheimer's disease: Mutation frequency in 31 families.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Staging of Alzheimer disease-associated neurofibrillary pathology using paraffin sections and immunocytochemistry

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Structure of a presenilin family intramembrane aspartate protease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

The presenilin 1 P264L mutation presenting as non-fluent/agrammatic primary progressive aphasia

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

A presenilin 1 R278I mutation presenting with language impairment.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

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://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Spontaneous ARIA (amyloid-related imaging abnormalities) and cerebral amyloid angiopathy related inflammation in presenilin 1-associated familial Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Familial Alzheimer's disease. A pedigree with a mis-sense mutation in the amyloid precursor protein gene (amyloid precursor protein 717 valine-->glycine).

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

The French Series of Autosomal Dominant Early Onset Alzheimer's Disease Cases: Mutation Spectrum and Cerebrospinal Fluid Biomarkers

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

The mechanism of γ-Secretase dysfunction in familial Alzheimer disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Qualitative changes in human γ-secretase underlie familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

An atomic structure of human γ-secretase

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Cooperative roles of hydrophilic loop 1 and the C-terminus of presenilin 1 in the substrate-gating mechanism of γ-secretase.

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Lewy body pathology in familial Alzheimer disease: evidence for disease- and mutation-specific pathologic phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Phenylpiperidine-type γ-secretase modulators target the transmembrane domain 1 of presenilin 1

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Allosteric regulation of γ-secretase activity by a phenylimidazole-type γ-secretase modulator

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

Familial Alzheimer's disease and inherited prion disease in the UK are poorly ascertained

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

The importance of dementia support groups

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930193-4

7 January 2021

10.1016/S1474-4422(16)30193-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27777022%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference