Familial frontotemporal dementia and parkinsonism with a novel mutation at an intron 10+11-splice site in the tau gene. (Q49291811)

19 February 2018

title

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

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19 February 2018

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frontotemporal dementia

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based on heuristic

inferred from title

parkinsonian syndrome

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6

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author name string

Miyamoto K

1

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Kowalska A

2

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Hasegawa M

3

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Tabira T

4

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Takahashi K

5

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Akiguchi I

7

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Ikemoto A

8

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publication date

1 July 2001

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19 February 2018

published in

Annals of Neurology

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19 February 2018

volume

50

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issue

1

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19 February 2018

page(s)

117-120

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

cites work

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Tau gene mutation G389R causes a tauopathy with abundant pick body-like inclusions and axonal deposits.

21 January 2018

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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

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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene

21 January 2018

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Frontotemporal dementia with novel tau pathology and a Glu342Valtau mutation

21 January 2018

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A novel mutation at position +12 in the intron following exon 10 of the tau gene in familial frontotemporal dementia (FTD-Kumamoto)

21 January 2018

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FTDP-17 mutations N279K and S305N in tau produce increased splicing of exon 10

21 January 2018

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Founders and CAG repeats: cause or effect?

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.1083

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19 February 2018

PubMed ID

11456301

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19 February 2018