(Q35752480)

English

Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms

scientific article published on 8 March 2007

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Europe PubMed Central

PubMed publication ID

10 August 2017

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Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms (English)

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Europe PubMed Central

PubMed publication ID

10 August 2017

single-nucleotide polymorphism

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based on heuristic

inferred from title

progressive supranuclear palsy

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inferred from title

Dennis W. Dickson

26

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10 August 2017

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Paul Tuite

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Irene Litvan

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Matthew J. Farrer

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Matthew J Farrer

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Ryan J Uitti

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10 August 2017

Zbigniew K Wszolek

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Zbigniew K Wszolek

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10 August 2017

Charles H Adler

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Charles Adler

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10 August 2017

Donald Brian Calne

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Donald B Calne

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Eileen H Bigio

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Neill R Graff-Radford

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Neill Graff-Radford

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10 August 2017

Stacey Melquist

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Stacey Melquist

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Matt Baker

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Lawrence I. Golbe

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Lawrence I Golbe

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10 August 2017

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Sarah Lincoln

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David W Craig

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Matthew J Huentelman

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10 August 2017

Richard Crook

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John V Pearson

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10 August 2017

Victoria L Zismann

7

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10 August 2017

Jennifer Gass

8

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10 August 2017

Jennifer Adamson

9

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10 August 2017

Szabolcs Szelinger

10

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10 August 2017

Jason Corneveaux

11

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10 August 2017

Ashley Cannon

12

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10 August 2017

Keith D Coon

13

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10 August 2017

Richard J Caselli

22

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Mike Hutton

27

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10 August 2017

Dietrich A Stephan

28

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publication date

8 March 2007

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10 August 2017

American Journal of Human Genetics

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10 August 2017

80

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10 August 2017

4

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10 August 2017

769-778

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10 August 2017

The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Identification of the genetic basis for complex disorders by use of pooling-based genomewide single-nucleotide-polymorphism association studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Haplotype-specific expression of exon 10 at the human MAPT locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

The DDB1-CUL4ADDB2 ubiquitin ligase is deficient in xeroderma pigmentosum group E and targets histone H2A at UV-damaged DNA sites

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

High-resolution whole-genome association study of Parkinson disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Identification of disease causing loci using an array-based genotyping approach on pooled DNA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

UV-induced ubiquitylation of XPC protein mediated by UV-DDB-ubiquitin ligase complex.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Silhouette scores for assessment of SNP genotype clusters

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

A common inversion under selection in Europeans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Update on progressive supranuclear palsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Tau haplotypes regulate transcription and are associated with Parkinson's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Human DDB2 splicing variants are dominant negative inhibitors of UV-damaged DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Diagnostic accuracy of progressive supranuclear palsy in the Society for Progressive Supranuclear Palsy brain bank

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

PROGRESSIVE SUPRANUCLEAR PALSY. A HETEROGENEOUS DEGENERATION INVOLVING THE BRAIN STEM, BASAL GANGLIA AND CEREBELLUM WITH VERTICAL GAZE AND PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Association testing by DNA pooling: an effective initial screen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Score tests for association between traits and haplotypes when linkage phase is ambiguous

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Familial atypical progressive supranuclear palsy associated with homozigosity for the delN296 mutation in the tau gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Clinical genetics of familial progressive supranuclear palsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

The tau gene A0 polymorphism in progressive supranuclear palsy and related neurodegenerative diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Mice deficient in lysosomal acid phosphatase develop lysosomal storage in the kidney and central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Clinical research criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome): report of the NINDS-SPSP international workshop

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau 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=1852701

2 October 2017

Validity and reliability of the preliminary NINDS neuropathologic criteria for progressive supranuclear palsy and related disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Preliminary NINDS neuropathologic criteria for Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Human lysosomal acid phosphatase: cloning, expression and chromosomal assignment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

2 October 2017

Genomewide association, Parkinson disease, and PARK10

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

12 July 2018

Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

12 July 2018

Considerations for genomewide association studies in Parkinson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

12 July 2018

Microglial activation parallels system degeneration in progressive supranuclear palsy and corticobasal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

12 July 2018

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

12 July 2018

Acid phosphatase activity in senile plaques and cerebrospinal fluid of patients with Alzheimer's disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

12 July 2018

Neurofibrillary tangles in Niemann-Pick disease type C.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

12 July 2018

A case-control association study of the 12 single-nucleotide polymorphisms implicated in Parkinson disease by a recent genome scan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

No evidence for association with Parkinson disease for 13 single-nucleotide polymorphisms identified by whole-genome association screening.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Cancer in xeroderma pigmentosum and related disorders of DNA repair

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

The structure of the tau haplotype in controls and in progressive supranuclear palsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Progressive supranuclear palsy and Parkinson's disease in a family with a new mutation in the tau gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Tau gene delN296 mutation, Parkinson's disease, and atypical supranuclear palsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Autophagy regulates the processing of amino terminal huntingtin fragments

1 reference

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25 September 2018

α-Synuclein Is Degraded by Both Autophagy and the Proteasome

1 reference

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25 September 2018

Preclinical cognitive decline in late middle-aged asymptomatic apolipoprotein E-e4/4 homozygotes: a replication study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Genetic evidence for the involvement of tau in progressive supranuclear palsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Accuracy of clinical criteria for the diagnosis of progressive supranuclear palsy (Steele-Richardson-Olszewski syndrome).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

25 September 2018

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1852701

6 December 2018

The tau H2 haplotype is almost exclusively Caucasian in origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Neurofibrillary tangles in Niemann-Pick disease type C

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Significant Changes in the Tau A0 and A3 Alleles in Progressive Supranuclear Palsy and Improved Genotyping by Silver Detection

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Progressive supranuclear palsy as a disease phenotype caused by the S305S tau gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apolipoprotein E and intellectual achievement

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

1 reference

https://pubmed.ncbi.nlm.nih.gov/17357082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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Europe PubMed Central

PubMed publication ID

10 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

10 August 2017

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