(Q38172839)

30 August 2017

title

The neuropathology associated with repeat expansions in the C9ORF72 gene (English)

1 reference

30 August 2017

3

Manuela Neumann

1 reference

30 August 2017

Ian R A Mackenzie

1

1 reference

30 August 2017

Petra Frick

series ordinal

2

1 reference

30 August 2017

publication date

20 December 2013

1 reference

30 August 2017

published in

Acta Neuropathologica

1 reference

30 August 2017

volume

127

1 reference

30 August 2017

issue

3

1 reference

30 August 2017

page(s)

347-357

1 reference

https://scigraph.springernature.com/pub.10.1007/s00401-013-1232-4

30 August 2017

exact match

0 references

cites work

Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Phosphorylated TDP-43 in Alzheimer's disease and dementia with Lewy bodies.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Reduced C9orf72 gene expression in c9FTD/ALS is caused by histone trimethylation, an epigenetic event detectable in blood

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

RNA-mediated toxicity in neurodegenerative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

The multiple roles of TDP-43 in pre-mRNA processing and gene expression regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Motor neuron dysfunction in frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Repeat-associated non-ATG (RAN) translation in neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Understanding the role of TDP-43 and FUS/TLS in ALS and beyond.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Ubiquitinated pathological lesions in frontotemporal lobar degeneration contain the TAR DNA-binding protein, TDP-43.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Mechanisms of disease in frontotemporal lobar degeneration: gain of function versus loss of function effects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Corticospinal tract degeneration associated with TDP-43 type C pathology and semantic dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Are amyotrophic lateral sclerosis patients cognitively normal?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

The neuropathology of frontotemporal lobar degeneration caused by mutations in the progranulin gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Nomenclature for neuropathologic subtypes of frontotemporal lobar degeneration: consensus recommendations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

A harmonized classification system for FTLD-TDP pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

TDP-43 in the ubiquitin pathology of frontotemporal dementia with VCP gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Phosphorylation of S409/410 of TDP-43 is a consistent feature in all sporadic and familial forms of TDP-43 proteinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Prevalence and patterns of cognitive impairment in sporadic ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Amyloid deposits: protection against toxic protein species?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Cellular toxicity of expanded RNA repeats: focus on RNA foci

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

Non-ATG-initiated translation directed by microsatellite expansions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-013-1232-4

10.1007/S00401-013-1232-4

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

30 August 2017

1050918602

0 references

1 reference