The genetics of frontotemporal dementia (Q81651132)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

The genetics of frontotemporal dementia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

main subject

frontotemporal dementia

1 reference

inferred from title

author

Stuart Pickering-Brown

series ordinal

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Michael Hutton

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

publication date

1 January 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

Handbook of clinical neurology / edited by P.J. Vinken and G.W. Bruyn

10 January 2020

published in

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

383-392

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

Association of an extended haplotype in the tau gene with progressive supranuclear palsy

10 January 2020

cites work

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Prevalence of TAU mutations in an Italian clinical series of familial frontotemporal patients

1 reference

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7 January 2021

Chromosome 17 and hereditary dementia: linkage studies in three non-Alzheimer families and kindreds with late-onset FAD.

1 reference

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7 January 2021

Familial non-specific dementia maps to chromosome 3

1 reference

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7 January 2021

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Inheritance of frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Neurodegenerative diseases with cytoskeletal pathology: A biochemical classification

1 reference

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7 January 2021

Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Determinants of 4-repeat tau expression. Coordination between enhancing and inhibitory splicing sequences for exon 10 inclusion

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Overexpression of tau protein inhibits kinesin-dependent trafficking of vesicles, mitochondria, and endoplasmic reticulum: implications for Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Allele ε4 of Apolipoprotein E Shows a Dose Effect on Age at Onset of Pick Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Mapping of a disease locus for familial rapidly progressive frontotemporal dementia to chromosome 17q12-21

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

The apolipoprotein E epsilon4 allele is not a significant risk factor for frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Progress in hereditary tauopathies: a mutation in the Tau gene (G389R) causes a Pick disease-like syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein-E genotyping in Alzheimer's disease and frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Chromosome 3 linked frontotemporal dementia (FTD-3).

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Tau proteins with FTDP-17 mutations have a reduced ability to promote microtubule assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein E polymorphism in patients with different neurodegenerative disorders.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Frequency oftau mutations in three series of non-Alzheimer's degenerative dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Tau haplotype frequency in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Increased risk for frontotemporal dementia through interaction between tau polymorphisms and apolipoprotein E epsilon4.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Aberrant splicing of tau pre-mRNA caused by intronic mutations associated with the inherited dementia frontotemporal dementia with parkinsonism linked to chromosome 17.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Clinical and molecular studies in a unique family with autosomal dominant limb-girdle muscular dystrophy and Paget disease of bone

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

The microtubule binding domain of tau protein.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein E epsilon2 may be a risk factor for sporadic frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Hereditary dysphasic disinhibition dementia: a frontotemporal dementia linked to 17q21-22.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Functional implications for the microtubule-associated protein tau: localization in oligodendrocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

The relationship between extramotor ubiquitin-immunoreactive neuronal inclusions and dementia in motor neuron disease

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

A family with tau-negative frontotemporal dementia and neuronal intranuclear inclusions linked to chromosome 17

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Molecular classification of the dementias

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

The apolipoprotein E epsilon4 allele frequency is normal in fronto-temporal dementia, but correlates with age at onset of disease

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

The genetic and pathological classification of familial frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Accelerated filament formation from tau protein with specific FTDP-17 missense mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Classification and description of frontotemporal dementias.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Cognitive change in motor neurone disease/amyotrophic lateral sclerosis (MND/ALS).

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Polymorphisms in the tau gene in sporadic frontotemporal dementia and other neurodegenerative disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein E allelic frequencies in patients with lobar atrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein E epsilon4 allele has no effect on age at onset or duration of disease in cases of frontotemporal dementia with pick- or microvacuolar-type histology.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

The structure of the tau haplotype in controls and in progressive supranuclear palsy

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Tau is a candidate gene for chromosome 17 frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Phenotypic correlations in FTDP-17.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein E polymorphism in German patients with frontotemporal degeneration

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein E genotype in diverse neurodegenerative disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Differences in tau and apolipoprotein E polymorphism frequencies in sporadic frontotemporal lobar degeneration syndromes

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Possible association of the tau H1/H1 genotype with primary progressive aphasia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Tau protein pathology in neurodegenerative diseases

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

The apolipoprotein E epsilon4 allele selectively increases the risk of frontotemporal lobar degeneration in males.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein E gene and sporadic frontal lobe dementia.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Familial aggregation in frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Apolipoprotein E gene in frontotemporal dementia: an association study and meta-analysis

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

17q-linked frontotemporal dementia-amyotrophic lateral sclerosis without tau mutations with tau and alpha-synuclein inclusions

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Frontotemporal dementia with ubiquitinated cytoplasmic and intranuclear inclusions.

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

Dementia of frontal type and dementias with subcortical gliosis

1 reference

https://api.crossref.org/works/10.1016%2FS0072-9752%2807%2901236-5

7 January 2021

10.1016/S0072-9752(07)01236-5

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18631762%20AND%20SRC:MED&resulttype=core&format=json