Hereditary frontotemporal dementia caused by Tau gene mutations. (Q34627056)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17493040%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

review article

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title

Hereditary frontotemporal dementia caused by Tau gene mutations (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17493040%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

main subject

dementia

0 references

frontotemporal dementia

1 reference

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30 December 2019

Maria Grazia Spillantini

series ordinal

object named as

Maria Grazia Spillantini

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30 December 2019

publication date

1 January 2007

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30 December 2019

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30 December 2019

volume

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30 December 2019

issue

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30 December 2019

page(s)

63-73

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

30 December 2019

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

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A clinical pathological comparison of three families with frontotemporal dementia and identical mutations in the tau gene (P301L)

21 January 2018

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Hereditary Pick's disease with the G272V tau mutation shows predominant three-repeat tau pathology

21 January 2018

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

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Straight and paired helical filaments in Alzheimer disease have a common structural unit

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

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

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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

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Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism

21 January 2018

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Clinic-based cases with frontotemporal dementia show increased cerebrospinal fluid tau and high apolipoprotein E epsilon4 frequency, but no tau gene mutations

21 January 2018

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Early and pre-symptomatic neuropsychological dysfunction in the PPND family with the N279K tau mutation

21 January 2018

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Characterization of two pathological tau protein, variants in Alzheimer brain cortices.

21 January 2018

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

21 January 2018

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Dementia and neurodevelopmental predisposition: cognitive dysfunction in presymptomatic subjects precedes dementia by decades in frontotemporal dementia

21 January 2018

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Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

21 January 2018

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Tau protein and neurodegeneration

21 January 2018

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

21 January 2018

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Tau proteins of Alzheimer paired helical filaments: abnormal phosphorylation of all six brain isoforms

21 January 2018

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Assembly of microtubule-associated protein tau into Alzheimer-like filaments induced by sulphated glycosaminoglycans

21 January 2018

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Tau gene mutation in familial progressive subcortical gliosis

21 January 2018

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

21 January 2018

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Chromosome 3 linked frontotemporal dementia (FTD-3).

21 January 2018

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

21 January 2018

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

21 January 2018

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Untangling tau-related dementia

21 January 2018

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Clinicopathological correlates in frontotemporal dementia

21 January 2018

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The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy

21 January 2018

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

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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Large-scale, multicenter study of cerebrospinal fluid tau protein phosphorylated at serine 199 for the antemortem diagnosis of Alzheimer's disease

21 January 2018

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Repeat motifs of tau bind to the insides of microtubules in the absence of taxol

21 January 2018

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

21 January 2018

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Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N.

21 January 2018

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Familial progressive subcortical gliosis.

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation

21 January 2018

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21 January 2018

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21 January 2018

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A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

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An English kindred with a novel recessive tauopathy and respiratory failure

21 January 2018

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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

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

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

21 January 2018

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Mutations in progranulin explain atypical phenotypes with variants in MAPT.

21 January 2018

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Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

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

21 January 2018

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

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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The prevalence of frontotemporal dementia

21 January 2018

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21 January 2018

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

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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Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations

21 January 2018

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Early-onset, rapidly progressive familial tauopathy with R406W mutation

21 January 2018

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

21 January 2018

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

21 January 2018

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Tau pathology in two Dutch families with mutations in the microtubule-binding region of tau

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

21 January 2018

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Familial presenile dementia with psychosis associated with cortical neurofibrillary tangles and degeneration of the amygdala

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein

21 January 2018

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Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration

21 January 2018

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Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3).

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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Mutations in tau reduce its microtubule binding properties in intact cells and affect its phosphorylation

21 January 2018

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A family with a tau P301L mutation presenting with parkinsonism

21 January 2018

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21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17493040%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17493040%20AND%20SRC:MED&resulttype=core&format=json