Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72 (Q34500097)

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English	Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72	scientific article

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scholarly article

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21 March 2020

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72 (English)

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21 March 2020

motor neuron disease

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frontotemporal lobar degeneration

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based on heuristic

inferred from title

Stuart Pickering-Brown

13

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21 March 2020

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21 March 2020

Andrew Robinson

3

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21 March 2020

Jennifer C Thompson

4

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21 March 2020

Bradley N. Smith

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21 March 2020

Christopher Shaw

9

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21 March 2020

author name string

Yvonne S Davidson

1

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21 March 2020

Jenny Harris

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21 March 2020

Safa Al-Saraj

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21 March 2020

Sara Rollinson

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21 March 2020

Masami Masuda-Suzukake

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21 March 2020

Masato Hasegawa

12

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21 March 2020

David M Mann

15

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21 March 2020

publication date

20 June 2014

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21 March 2020

Acta Neuropathologica Communications

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21 March 2020

2

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21 March 2020

70

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21 March 2020

https://scigraph.springernature.com/pub.10.1186/2051-5960-2-70

0 references

Frontotemporal dementia and its subtypes: a genome-wide association study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

TMEM106B is a genetic modifier of frontotemporal lobar degeneration with C9orf72 hexanucleotide repeat expansions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Pathological assessments for the presence of hexanucleotide repeat expansions in C9ORF72 in Alzheimer's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Expanded GGGGCC repeat RNA associated with amyotrophic lateral sclerosis and frontotemporal dementia causes neurodegeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Autosomal dominant frontotemporal lobar degeneration due to the C9ORF72 hexanucleotide repeat expansion: late-onset psychotic clinical presentation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Screening for C9ORF72 repeat expansion in FTLD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Neuroimaging signatures of frontotemporal dementia genetics: C9ORF72, tau, progranulin and sporadics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

A harmonized classification system for FTLD-TDP pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

TMEM106B is associated with frontotemporal lobar degeneration in a clinically diagnosed patient cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Rab GTPases regulating phagosome maturation are differentially recruited to mycobacterial phagosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Sortilin-mediated endocytosis determines levels of the frontotemporal dementia protein, progranulin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Frontotemporal lobar degeneration: clinical and pathological relationships

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Rab38 and Rab32 control post-Golgi trafficking of melanogenic enzymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

7 July 2018

A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study.

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Dipeptide repeat protein pathology in C9ORF72 mutation cases: clinico-pathological correlations

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

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/10.1186%2F2051-5960-2-70

21 January 2018

Apolipoprotein E4 in the temporal variant of frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Familial aggregation in frontotemporal dementia.

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Preferential deposition of amyloid beta protein (Abeta) in the form Abeta40 in Alzheimer's disease is associated with a gene dosage effect of the apolipoprotein E E4 allele.

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Patterns of cerebral amyloid angiopathy define histopathological phenotypes in Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Sensitivity and specificity of FTDC criteria for behavioral variant frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Mixed tau, TDP-43 and p62 pathology in FTLD associated with a C9ORF72 repeat expansion and p.Ala239Thr MAPT (tau) variant.

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

C9orf72 G4C2 repeat expansions in Alzheimer's disease and mild cognitive impairment.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

27 October 2018

El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis. Subcommittee on Motor Neuron Diseases/Amyotrophic Lateral Sclerosis of the World Federation of Neurology Research Group on Neuromuscular Diseases a

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229740

27 October 2018

The effects of APOE and tau gene variability on risk of frontotemporal dementia

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

1 reference

https://api.crossref.org/works/10.1186%2F2051-5960-2-70

21 January 2018

Apolipoprotein E genotyping by one-stage PCR

1 reference

https://pubmed.ncbi.nlm.nih.gov/24950788

12 December 2020

based on heuristic

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

https://pubmed.ncbi.nlm.nih.gov/24950788

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/2051-5960-2-70

1 reference

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21 March 2020

Dimensions Publication ID

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1 reference

Europe PubMed Central

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21 March 2020

1 reference

Europe PubMed Central

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21 March 2020

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