(Q42487006)

English

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.

scientific article published on May 2000

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775534%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775534%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

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progressive supranuclear palsy

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

Glenda Halliday

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775534%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

William S Brooks

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775534%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10775534%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Peter R Schofield

9

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Europe PubMed Central

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6 November 2019

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P M Stanford

1

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6 November 2019

C E Storey

5

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6 November 2019

H Creasey

6

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Europe PubMed Central

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6 November 2019

J G Morris

7

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6 November 2019

M J Fulham

8

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6 November 2019

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1 May 2000

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6 November 2019

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Europe PubMed Central

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6 November 2019

123 ( Pt 5)

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6 November 2019

880-893

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6 November 2019

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Dystonia in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Staging of Alzheimer's disease-related neurofibrillary changes

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Genetic evidence for the involvement of tau in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

The clinical and pathological spectrum of Steele-Richardson-Olszewski syndrome (progressive supranuclear palsy): a reappraisal

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Familial progressive supranuclear palsy. Description of a pedigree and review of the literature

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Neuropathologic overlap of progressive supranuclear palsy, Pick's disease and corticobasal degeneration

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Conference Participants

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Tau mutations cause frontotemporal dementias

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Tau gene mutation in familial progressive subcortical gliosis

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

5' splice site mutations in tau associated with the inherited dementia FTDP-17 affect a stem-loop structure that regulates alternative splicing of exon 10.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Simplified neuropathological diagnosis of dementia with Lewy bodies

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Mutation-specific functional impairments in distinct tau isoforms of hereditary FTDP-17.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

A distinct familial presenile dementia with a novel missense mutation in the tau gene

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Tau-positive glial inclusions in progressive supranuclear palsy, corticobasal degeneration and Pick's disease

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Clinical and genetic aspects of progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

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/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Tau pathology in a family with dementia and a P301L mutation in tau.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

From genotype to phenotype: a clinical pathological, and biochemical investigation of frontotemporal dementia and parkinsonism (FTDP-17) caused by the P301L tau mutation

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

The neuropsychological pattern of corticobasal degeneration: comparison with progressive supranuclear palsy and Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Autosomal dominant dementia with widespread neurofibrillary tangles.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration").

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Clinical genetics of familial progressive supranuclear palsy.

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

The neuropathology of chromosome 17-linked dementia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Mutation in the tau gene in familial multiple system tauopathy with presenile dementia

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

The significance of cortical pathology in progressive supranuclear palsy. Clinico-pathological data in 10 cases

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

Hereditary frontotemporal dementia is linked to chromosome 17q21?q22: A genetic and clinicopathological study of three dutch families

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2F123.5.880

21 January 2018

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