(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

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

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

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

0 references

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

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

William S Brooks

3

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

4

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

Peter R Schofield

9

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

author name string

P M Stanford

1

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

C E Storey

5

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

H Creasey

6

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

J G Morris

7

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

M J Fulham

8

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

language of work or name

0 references

publication date

1 May 2000

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

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

123 ( Pt 5)

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

880-893

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

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

Identifiers

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q42487006&oldid=1697832998"