Disease-related mutations among Caribbean Hispanics with familial dementia (Q34311130)

1 August 2017

title

Disease-related mutations among Caribbean Hispanics with familial dementia (English)

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1 August 2017

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11

Richard Mayeux

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1 August 2017

4

Christiane Reitz

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1 August 2017

Joseph H Lee

1

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1 August 2017

Amanda Kahn

2

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1 August 2017

Rong Cheng

3

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1 August 2017

Badri Vardarajan

5

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1 August 2017

Rafael Lantigua

6

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1 August 2017

Martin Medrano

7

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1 August 2017

Ivonne Z Jiménez-Velázquez

8

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1 August 2017

Jennifer Williamson

9

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1 August 2017

Peter Nagy

10

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1 August 2017

publication date

4 June 2014

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Molecular genetics & genomic medicine

1 August 2017

published in

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1 August 2017

volume

2

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1 August 2017

issue

5

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1 August 2017

page(s)

430-437

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C9ORF72 repeat expansions and other FTD gene mutations in a clinical AD patient series from Mayo Clinic

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Locus-specific mutation databases for neurodegenerative brain diseases

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

PSEUDOMARKER: a powerful program for joint linkage and/or linkage disequilibrium analysis on mixtures of singletons and related individuals

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Rs5848 variant influences GRN mRNA levels in brain and peripheral mononuclear cells in patients with Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Molecular biology and genetics of Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

New frontiers in Alzheimer's disease genetics

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Predicting deleterious amino acid substitutions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Linkage analysis in the presence of errors IV: joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Presenilin mutations in Alzheimer's disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.

6 July 2018

1 reference

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

21 January 2018

1 reference

Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein.

21 January 2018

1 reference

Presenilins and Alzheimer disease

21 January 2018

1 reference

Familial early-onset dementia with tau intron 10 16 mutation with clinical features similar to those of Alzheimer disease

21 January 2018

1 reference

Genetics of early-onset Alzheimer dementia.

21 January 2018

1 reference

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe

21 January 2018

1 reference

Presenilin 1 Met146Leu variant due to an A --> T transversion in an early-onset familial Alzheimer's disease pedigree from Argentina.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4190878

A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25333068

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular genetics of Alzheimer's disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25333068

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25333068

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/MGG3.85

1 reference

1 August 2017

1 reference

1 August 2017

1 reference