Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations (Q35776901)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

title

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations (English)

1 reference

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21 January 2020

main subject

dementia

0 references

frontotemporal dementia

1 reference

inferred from title

author

Stuart Pickering-Brown

16

1 reference

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21 January 2020

Julie Snowden

1

1 reference

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21 January 2020

Jennifer C Thompson

3

1 reference

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21 January 2020

Cheryl L Stopford

5

1 reference

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21 January 2020

Alexander Gerhard

8

1 reference

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21 January 2020

Andrew Robinson

10

1 reference

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21 January 2020

14

David Neary

1 reference

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21 January 2020

author name string

Sara Rollinson

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Jennifer M Harris

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Anna M T Richardson

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Matthew Jones

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Yvonne S Davidson

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Linda Gibbons

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Quan Hu

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

Daniel DuPlessis

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

David M A Mann

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

language of work or name

English

0 references

publication date

2 February 2012

1 reference

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21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

volume

135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

page(s)

693-708

1 reference

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21 January 2020

issue

Pt 3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

21 January 2020

cites work

1 reference

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A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

12 July 2018

1 reference

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Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

12 July 2018

1 reference

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Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration

12 July 2018

1 reference

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The clinical diagnosis of early-onset dementias: diagnostic accuracy and clinicopathological relationships.

12 July 2018

1 reference

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Sensitivity of revised diagnostic criteria for the behavioural variant of frontotemporal dementia

12 July 2018

1 reference

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Cellular toxicity of expanded RNA repeats: focus on RNA foci

12 July 2018

1 reference

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A harmonized classification system for FTLD-TDP pathology

12 July 2018

1 reference

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Neuropathological background of phenotypical variability in frontotemporal dementia

12 July 2018

1 reference

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The most common type of FTLD-FUS (aFTLD-U) is associated with a distinct clinical form of frontotemporal dementia but is not related to mutations in the FUS gene

12 July 2018

1 reference

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Eating and hypothalamus changes in behavioral-variant frontotemporal dementia

12 July 2018

1 reference

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Motor neuron disease and frontotemporal dementia: One, two, or three diseases?

12 July 2018

1 reference

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Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

12 July 2018

1 reference

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Semantic dementia with lower motor neuron disease showing FTLD-TDP type 3 pathology (sensu Mackenzie).

12 July 2018

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Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

12 July 2018

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Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study

12 July 2018

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Neurobehavioral features in frontotemporal dementia with amyotrophic lateral sclerosis

12 July 2018

1 reference

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Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

12 July 2018

1 reference

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FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration

12 July 2018

1 reference

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Frequency of ubiquitin and FUS-positive, TDP-43-negative frontotemporal lobar degeneration

12 July 2018

1 reference

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Nomenclature and nosology for neuropathologic subtypes of frontotemporal lobar degeneration: an update

12 July 2018

1 reference

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Semantic dementia combined with motor neuron disease

12 July 2018

1 reference

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Clinical entity of frontotemporal dementia with motor neuron disease

12 July 2018

1 reference

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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

12 July 2018

1 reference

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The clinical spectrum of stereotypies in frontotemporal lobar degeneration

12 July 2018

1 reference

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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

12 July 2018

1 reference

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Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

12 July 2018

1 reference

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Delusion of pregnancy in frontotemporal lobar degeneration with motor neurone disease (FTLD/MND)

12 July 2018

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Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

12 July 2018

1 reference

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The syndromes of frontotemporal dysfunction in amyotrophic lateral sclerosis.

12 July 2018

1 reference

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An evidence-based review of the psychopathology of frontotemporal dementia: a report of the ANPA Committee on Research

12 July 2018

1 reference

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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

12 July 2018

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Psychotic symptoms in frontotemporal dementia: prevalence and review

12 July 2018

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Frequency and clinical characteristics of progranulin mutation carriers in the Manchester frontotemporal lobar degeneration cohort: comparison with patients with MAPT and no known mutations

12 July 2018

1 reference

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Cognitive impairment in amyotrophic lateral sclerosis

12 July 2018

1 reference

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

12 July 2018

1 reference

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Frontotemporal lobar degeneration: clinical and pathological relationships

12 July 2018

1 reference

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TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations

12 July 2018

1 reference

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Establishing subtypes of the continuum of frontal lobe impairment in amyotrophic lateral sclerosis

12 July 2018

1 reference

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

12 July 2018

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Heterogeneity of ubiquitin pathology in frontotemporal lobar degeneration: classification and relation to clinical phenotype

12 July 2018

1 reference

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Pathological heterogeneity of frontotemporal lobar degeneration with ubiquitin-positive inclusions delineated by ubiquitin immunohistochemistry and novel monoclonal antibodies

12 July 2018

1 reference

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

12 July 2018

1 reference

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Qualitative neuropsychological performance characteristics in frontotemporal dementia and Alzheimer's disease

12 July 2018

1 reference

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Distinct behavioural profiles in frontotemporal dementia and semantic dementia

12 July 2018

1 reference

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Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

12 July 2018

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

12 July 2018

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Inter-relation between "classic" motor neuron disease and frontotemporal dementia: neuropsychological and single photon emission computed tomography study

12 July 2018

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Frontal lobe dementia and motor neuron disease

12 July 2018

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

12 July 2018

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The case of a 48 year-old woman with bizarre and complex delusions.

12 July 2018

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Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis.

25 September 2018

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25 September 2018

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Variability in cognitive presentation of Alzheimer's disease.

25 September 2018

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Cognitive phenotypes in Alzheimer's disease and genetic risk.

25 September 2018

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Continuum of frontal lobe impairment in amyotrophic lateral sclerosis

25 September 2018

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Rapidly progressive aphasic dementia with motor neuron disease: a distinctive clinical entity.

25 September 2018

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The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

25 September 2018

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Behaviour in frontotemporal dementia, Alzheimer's disease and vascular dementia.

25 September 2018

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Selective impairment of verb processing associated with pathological changes in Brodmann areas 44 and 45 in the motor neurone disease-dementia-aphasia syndrome.

25 September 2018

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Psychotic symptoms in dementia associated with motor neuron disease: a pathophysiological hypothesis.

25 September 2018

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Tau is a candidate gene for chromosome 17 frontotemporal dementia

25 September 2018

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Rapidly progressive aphasic dementia and motor neuron disease.

25 September 2018

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Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

25 September 2018

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Crossref

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWR355

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

21 January 2018

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Pathological correlates of frontotemporal lobar degeneration in the elderly

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22300873

12 December 2020

inferred from PubMed ID database lookup

Neuropathologic features of frontotemporal lobar degeneration with ubiquitin-positive inclusions visualized with ubiquitin-binding protein p62 immunohistochemistry

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22300873

12 December 2020

inferred from PubMed ID database lookup

Ubiquitinated, p62 immunopositive cerebellar cortical neuronal inclusions are evident across the spectrum of TDP-43 proteinopathies but are only rarely additionally immunopositive for phosphorylation-dependent TDP-43

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22300873

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1093/BRAIN/AWR355

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json

21 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22300873%20AND%20SRC:MED&resulttype=core&format=json