Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. (Q46745726)

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3 January 2020

title

Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation (English)

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3 January 2020

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4

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3 January 2020

author name string

S G Lindquist

1

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I E Holm

2

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M Schwartz

3

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J Stokholm

5

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M Batbayli

6

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G Waldemar

7

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J E Nielsen

8

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publication date

16 February 2008

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European Journal of Neurology

3 January 2020

published in

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volume

15

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issue

4

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page(s)

377-385

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Inheritance of frontotemporal dementia

3 January 2020

cites work

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

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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

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Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

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

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Guidelines for the molecular genetics predictive test in Huntington's disease

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Discrimination between Alzheimer dementia and controls by automated analysis of multicenter FDG PET.

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Metabolic reduction in the posterior cingulate cortex in very early Alzheimer's disease.

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The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy

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Familial presenile dementia with bitemporal atrophy.

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Autosomal dominant dementia with widespread neurofibrillary tangles.

21 January 2018

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Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe

21 January 2018

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FTDP-17 mutations compromise the ability of tau to regulate microtubule dynamics in cells

21 January 2018

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Neuropathologic, biochemical, and molecular characterization of the frontotemporal dementias

21 January 2018

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Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

21 January 2018

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An immunohistochemical study of cases of sporadic and inherited frontotemporal lobar degeneration using 3R- and 4R-specific tau monoclonal antibodies.

21 January 2018

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

21 January 2018

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Neuropathologic diagnostic and nosologic criteria for frontotemporal lobar degeneration: consensus of the Consortium for Frontotemporal Lobar Degeneration

21 January 2018

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Amyloid beta protein deposition in patients with frontotemporal lobar degeneration: relationship to age and apolipoprotein E genotype

21 January 2018

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

21 January 2018

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Comparison of extent of tau pathology in patients with frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17), frontotemporal lobar degeneration with Pick bodies and early onset Alzheimer's disease

21 January 2018

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10.1111/J.1468-1331.2008.02069.X

21 January 2018

Identifiers

DOI

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3 January 2020

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