(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

1 reference

title

Hereditary frontotemporal dementia caused by Tau gene mutations (English)

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

main subject

dementia

0 references

frontotemporal dementia

1 reference

1

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

Maria Grazia Spillantini

series ordinal

2

object named as

Maria Grazia Spillantini

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

publication date

1 January 2007

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

30 December 2019

volume

17

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

issue

1

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

page(s)

63-73

1 reference

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

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

30 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Molecular genetic characterisation of frontotemporal dementia on chromosome 3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Epidemiology and genetics of frontotemporal dementia/Pick's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

A novel presenilin 1 mutation associated with Pick's disease but not beta-amyloid plaques.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Familial frontotemporal dementia associated with the novel MAPT mutation T427M.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Tau protein and neurodegeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Tau gene mutation in familial progressive subcortical gliosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

Chromosome 3 linked frontotemporal dementia (FTD-3).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.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.1750-3639.2007.00052.X

Untangling tau-related dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Clinicopathological correlates in frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Familial progressive subcortical gliosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

The microtubule binding domain of tau protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Neurodegenerative tauopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

Clinical characteristics of a family with chromosome 17-linked disinhibition-dementia-parkinsonism-amyotrophy complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

The genetic and pathological classification of familial frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

An English kindred with a novel recessive tauopathy and respiratory failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Tau is a candidate gene for chromosome 17 frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

The prevalence of frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Autosomal dominant dementia with widespread neurofibrillary tangles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

A new mutation of the tau gene, G303V, in early-onset familial progressive supranuclear palsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.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.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.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.1750-3639.2007.00052.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.1750-3639.2007.00052.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.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Clinical and genetic studies of families with the tau N279K mutation (FTDP-17).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Structure of tau exon 10 splicing regulatory element RNA and destabilization by mutations of frontotemporal dementia and parkinsonism linked to chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

Mutation screening of the MAPT and STH genes in Polish patients with clinically diagnosed frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

A family with a tau P301L mutation presenting with parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1750-3639.2007.00052.X

10.1111/J.1750-3639.2007.00052.X

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