(Q36424866)

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Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort

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scholarly article

1 reference

Europe PubMed Central

14 August 2017

Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort (English)

1 reference

Europe PubMed Central

14 August 2017

Alzheimer's disease

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Bruno A Benitez

object named as

Bruno A Benitez

5

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Cristina Razquin

object named as

Cristina Razquin

6

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Carlos Cruchaga

object named as

Carlos Cruchaga

9

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object named as

Pau Pastor

2

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object named as

Alison Goate

7

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object named as

Sheng Chih Jin

1

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3

object named as

Breanna Cooper

1 reference

Europe PubMed Central

14 August 2017

author name string

Sebastian Cervantes

4

1 reference

Europe PubMed Central

14 August 2017

Ibero-American Alzheimer Disease Genetics Group Researchers

8

1 reference

Europe PubMed Central

14 August 2017

language of work or name

0 references

publication date

20 August 2012

1 reference

Europe PubMed Central

14 August 2017

Alzheimers Research & Therapy

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Europe PubMed Central

14 August 2017

4

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Europe PubMed Central

14 August 2017

34

1 reference

Europe PubMed Central

14 August 2017

4

1 reference

Europe PubMed Central

14 August 2017

https://scigraph.springernature.com/pub.10.1186/alzrt137

0 references

The MAPT p.A152T variant is a risk factor associated with tauopathies with atypical clinical and neuropathological features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

National Institute on Aging-Alzheimer's Association guidelines for the neuropathologic assessment 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=3506948

30 September 2017

Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Association of TMEM106B gene polymorphism with age at onset in granulin mutation carriers and plasma granulin protein levels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

High-throughput discovery of rare insertions and deletions in large cohorts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

2009 Alzheimer's disease facts and figures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

HDDD2 is a familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions caused by a missense mutation in the signal peptide of progranulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Characteristics of frontotemporal dementia patients with a Progranulin mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Alzheimer Disease in the US Population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

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=3506948

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=3506948

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=3506948

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

30 September 2017

Structure of the bovine tau gene: alternatively spliced transcripts generate a protein family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

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=3506948

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=3506948

30 September 2017

Progranulin plasma levels in the diagnosis of frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

28 June 2018

Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

28 June 2018

Structure and novel exons of the human tau gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

28 June 2018

Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Frequency of mutations in the presenilin and amyloid precursor protein genes in early-onset Alzheimer disease in Spain.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Progranulin plasma levels as potential biomarker for the identification of GRN deletion carriers. A case with atypical onset as clinical amnestic Mild Cognitive Impairment converted to Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

A novel deletion in progranulin gene is associated with FTDP-17 and CBS.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Neuropathologic heterogeneity in HDDD1: a familial frontotemporal lobar degeneration with ubiquitin-positive inclusions and progranulin mutation.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Increased risk for frontotemporal dementia through interaction between tau polymorphisms and apolipoprotein E epsilon4.

1 reference

https://api.crossref.org/works/10.1186%2FALZRT137

21 January 2018

Genetic variation in APOE cluster region and Alzheimer's disease risk.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

21 September 2018

The Effect of MAPT H1 and APOE ε4 on Transition from Mild Cognitive Impairment to Dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3506948

4 December 2018

A large pedigree with early-onset Alzheimer's disease: clinical, neuropathologic, and genetic characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/22906081

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/22906081

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/ALZRT137

1 reference

Europe PubMed Central

14 August 2017

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1 reference

Europe PubMed Central

14 August 2017

1 reference

Europe PubMed Central

14 August 2017

ResearchGate publication ID

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