(Q30993864)

28 June 2017

A new family with frontotemporal dementia with intronic 10+3 splice site mutation in the tau gene: neuropathology and molecular effects (English)

1 reference

28 June 2017

frontotemporal dementia

1 reference

Neumann M

1

1 reference

28 June 2017

Mittelbronn M

2

1 reference

28 June 2017

Simon P

3

1 reference

28 June 2017

Vanmassenhove B

4

1 reference

28 June 2017

de Silva R

5

1 reference

28 June 2017

Lees A

6

1 reference

28 June 2017

Klapp J

7

1 reference

28 June 2017

Meyermann R

8

1 reference

28 June 2017

Kretzschmar HA

9

1 reference

28 June 2017

1 August 2005

1 reference

Neuropathology and Applied Neurobiology

28 June 2017

1 reference

28 June 2017

31

1 reference

28 June 2017

362-373

1 reference

28 June 2017

4

1 reference

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

28 June 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Familial frontotemporal dementia with ubiquitin-positive inclusions is linked to chromosome 17q21-22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Tau negative frontal lobe dementia at 17q21: significant finemapping of the candidate region to a 4.8 cM interval.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Multiple isoforms of human microtubule-associated protein tau: sequences and localization in neurofibrillary tangles of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Identification of a novel microtubule binding and assembly domain in the developmentally regulated inter-repeat region of tau.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Mutations in the tau gene that cause an increase in three repeat tau and frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Late-onset frontotemporal dementia with a novel exon 1 (Arg5His) tau gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Tau gene mutation K257T causes a tauopathy similar to Pick's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

A novel tau mutation in exon 9 (1260V) causes a four-repeat tauopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Frontotemporal dementia with Pick-type histology associated with Q336R mutation in the tau gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Pick's disease associated with the novel Tau gene mutation K369I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Familial multiple-system tauopathy with presenile dementia is localized to chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

Tau gene mutation in familial progressive subcortical gliosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2990.2005.00629.X

10.1111/J.1365-2990.2005.00629.X

21 January 2018

Identifiers

DOI

1 reference

28 June 2017

1 reference