Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome (Q34804085)

4 August 2017

0 references

Novel L284R MAPT mutation in a family with an autosomal dominant progressive supranuclear palsy syndrome (English)

1 reference

progressive supranuclear palsy

4 August 2017

1 reference

3

Jana Vandrovcova

1 reference

4 August 2017

Jonathan D Rohrer

1

0 references

Martin Rossor

object named as

Martin N Rossor

series ordinal

6

0 references

John Hodges

series ordinal

4

object named as

John Hodges

1 reference

4 August 2017

Dominic Paviour

2

1 reference

PubMed ID

20838030

4 August 2017

Rohan de Silva

series ordinal

5

1 reference

4 August 2017

14 September 2010

1 reference

Neurodegenerative Diseases

4 August 2017

1 reference

4 August 2017

8

1 reference

4 August 2017

3

1 reference

4 August 2017

149-152

1 reference

The heritability and genetics of frontotemporal lobar degeneration.

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

Familial aggregation of parkinsonism in progressive supranuclear palsy.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

Progressive supranuclear palsy: pathology and genetics

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

Hereditary frontotemporal dementia caused by Tau gene mutations.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

Regulation of tau isoform expression and dementia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

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.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

Tau is a candidate gene for chromosome 17 frontotemporal dementia

8 July 2018

1 reference

An R5L tau mutation in a subject with a progressive supranuclear palsy phenotype.

21 January 2018

1 reference

Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3078284

Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20838030

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20838030

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1159/000319454

1 reference

4 August 2017

1 reference

4 August 2017

1 reference

PubMed ID

20838030