(Q33771562)

29 July 2017

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

1 reference

29 July 2017

0 references

Isabel Santana

28

0 references

Jordi Clarimón

Jordi Clarimón

33

0 references

Jordi Pérez-Tur

Jordi Pérez-Tur

20

0 references

José Luis Molinuevo

José L Molinuevo

18

0 references

Pau Pastor

Pau Pastor

19

0 references

Catarina R. Oliveira

Catarina Resende Oliveira

22

0 references

Ekaterina Rogaeva

24

Ekaterina Rogaeva

1 reference

29 July 2017

32

John Hardy

1 reference

29 July 2017

31

Andrew Singleton

1 reference

29 July 2017

1

Rita Joao Guerreiro

1 reference

29 July 2017

Miquel Baquero

2

1 reference

29 July 2017

Rafael Blesa

3

1 reference

29 July 2017

Mercè Boada

4

1 reference

29 July 2017

Jose Miguel Brás

5

1 reference

29 July 2017

Maria J Bullido

6

1 reference

29 July 2017

Ana Calado

7

1 reference

29 July 2017

Richard Crook

8

1 reference

29 July 2017

Carla Ferreira

9

1 reference

29 July 2017

Ana Frank

10

1 reference

29 July 2017

Teresa Gómez-Isla

11

1 reference

29 July 2017

Isabel Hernández

12

1 reference

29 July 2017

Alberto Lleó

13

1 reference

29 July 2017

Alvaro Machado

14

1 reference

29 July 2017

Pablo Martínez-Lage

15

1 reference

29 July 2017

José Masdeu

16

1 reference

29 July 2017

Laura Molina-Porcel

17

1 reference

29 July 2017

Rute Relvas

21

1 reference

29 July 2017

Maria Helena Ribeiro

23

1 reference

29 July 2017

Alfredo Sa

25

1 reference

29 July 2017

Lluís Samaranch

26

1 reference

29 July 2017

Raquel Sánchez-Valle

27

1 reference

29 July 2017

Lluís Tàrraga

29

1 reference

29 July 2017

Fernando Valdivieso

30

1 reference

29 July 2017

30 July 2008

1 reference

29 July 2017

Neurobiology of Aging

1 reference

29 July 2017

31

1 reference

29 July 2017

725-731

1 reference

29 July 2017

5

1 reference

Frontotemporal dementia-like phenotypes associated with presenilin-1 mutations

29 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Disease-specific accumulation of mutant ubiquitin as a marker for proteasomal dysfunction in the brain

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Distinct mechanisms by mutant presenilin 1 and 2 leading to increased intracellular levels of amyloid beta-protein 42 in Chinese hamster ovary cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

A human genome diversity cell line panel

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

New frontiers in Alzheimer's disease genetics

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Neuropathological stageing of Alzheimer-related changes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

New V272A presenilin 1 mutation with very early onset subcortical dementia and parkinsonism.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

A novel mutation (Thr116Ile) in the presenilin 1 gene in a patient with early-onset Alzheimer's disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Human wild presenilin-1 mimics the effect of the mutant presenilin-1 on the processing of Alzheimer's amyloid precursor protein in PC12D cells

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

Presenilin mutations line up along transmembrane alpha-helices.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2850052

DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations

30 October 2018

1 reference

12 December 2020

Reporting and interpretation of genetic variants in cases and controls

1 reference

12 December 2020

Molecular genetics of Alzheimer’s disease

1 reference

12 December 2020

A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)

1 reference

12 December 2020

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

1 reference

12 December 2020

10.1016/J.NEUROBIOLAGING.2008.06.012

Identifiers

DOI

1 reference

29 July 2017

1 reference

29 July 2017

1 reference