(Q46034754)

18 December 2017

title

Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration. (English)

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18 December 2017

author

Stuart Pickering-Brown

8

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18 December 2017

Julie Snowden

object named as

Julie S Snowden

5

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David Neary

6

object named as

David Neary

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18 December 2017

author name string

Roberto Colombo

1

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18 December 2017

Daniela Tavian

2

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18 December 2017

Matthew C Baker

3

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18 December 2017

Anna M T Richardson

4

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18 December 2017

David M A Mann

7

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18 December 2017

publication date

14 April 2009

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18 December 2017

published in

Neurogenetics

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18 December 2017

volume

10

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18 December 2017

issue

4

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18 December 2017

page(s)

313-318

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18 December 2017

https://scigraph.springernature.com/pub.10.1007/s10048-009-0189-x

exact match

0 references

cites work

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1007%2FS10048-009-0189-X

Early-onset, rapidly progressive familial tauopathy with R406W mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-009-0189-X

Familial aggregation in frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-009-0189-X

Clinical features of frontotemporal dementia due to the intronic tau 10(+16) mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-009-0189-X

Neuropathologic variation in frontotemporal dementia due to the intronic tau 10(+16) mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10048-009-0189-X

High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence

21 January 2018

1 reference

12 December 2020

Inherited frontotemporal dementia in nine British families associated with intronic mutations in the tau gene.

1 reference

12 December 2020

A family with autosomal dominant, non-Alzheimer's presenile dementia.

1 reference

12 December 2020

Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation

1 reference

12 December 2020

Estimating the age of rare disease mutations: the example of Triple-A syndrome.

1 reference

12 December 2020

Immunotherapy targeting pathological tau protein in Alzheimer's disease and related tauopathies.

1 reference

12 December 2020

Contrasting genotypes of the tau gene in two phenotypically distinct patients with P301L mutation of frontotemporal dementia and parkinsonism linked to chromosome 17.

1 reference

12 December 2020

Dementia of frontal lobe type: neuropathology and immunohistochemistry.

1 reference

12 December 2020

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

1 reference

12 December 2020

Tauopathies: classification and clinical update on neurodegenerative diseases associated with microtubule-associated protein tau

1 reference

12 December 2020

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

12 December 2020

Pathogenic missense MAPT mutations differentially modulate tau aggregation propensity at nucleation and extension steps

1 reference

12 December 2020

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

1 reference

12 December 2020

Mechanism of tau-induced neurodegeneration in Alzheimer disease and related tauopathies

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies

1 reference

12 December 2020

The genetic clock and the age of the founder effect in growing populations: a lesson from French Canadians and Ashkenazim

1 reference

12 December 2020

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

1 reference

12 December 2020

Tau gene mutation in familial progressive subcortical gliosis

1 reference

12 December 2020

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

1 reference

12 December 2020

Neurodegenerative tauopathies

1 reference

12 December 2020

A high-resolution recombination map of the human genome

1 reference

12 December 2020

Measuring the strength of associations between HLA antigens and diseases

1 reference

12 December 2020

Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

1 reference

12 December 2020

Familial early-onset dementia with tau intron 10 + 16 mutation with clinical features similar to those of Alzheimer disease.

1 reference

12 December 2020

Tau oligomerization: a role for tau aggregation intermediates linked to neurodegeneration

1 reference

12 December 2020

The role of tau (MAPT) in frontotemporal dementia and related tauopathies

1 reference

12 December 2020

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

12 December 2020

Therapeutic strategies for Alzheimer's disease

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12 December 2020

10.1007/S10048-009-0189-X

Identifiers

DOI

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18 December 2017

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18 December 2017