(Q47548592)

3 February 2018

title

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability (English)

1 reference

3 February 2018

0 references

0 references

0 references

frontotemporal dementia

1 reference

3

Dieter Edbauer

1 reference

3 February 2018

Malcolm Proudfoot

1

1 reference

3 February 2018

Nick J Gutowski

2

1 reference

3 February 2018

David A Hilton

4

1 reference

3 February 2018

Mark Stephens

5

1 reference

3 February 2018

Julia Rankin

6

1 reference

3 February 2018

Ian R A Mackenzie

7

1 reference

3 February 2018

publication date

21 January 2014

1 reference

3 February 2018

published in

Acta Neuropathologica

1 reference

3 February 2018

volume

127

1 reference

3 February 2018

issue

3

1 reference

3 February 2018

page(s)

451-458

1 reference

3 February 2018

https://scigraph.springernature.com/pub.10.1007/s00401-014-1245-7

exact match

0 references

cites work

TDP-43 immunoreactivity in hippocampal sclerosis and Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Multiparametric MRI study of ALS stratified for the C9orf72 genotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

Stages of pTDP-43 pathology in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

The RNA-binding motif 45 (RBM45) protein accumulates in inclusion bodies in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

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/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

Familial frontotemporal dementia and amyotrophic lateral sclerosis associated with the C9ORF72 hexanucleotide repeat.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

A harmonized classification system for FTLD-TDP pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

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%2FS00401-014-1245-7

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%2FS00401-014-1245-7

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%2FS00401-014-1245-7

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%2FS00401-014-1245-7

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%2FS00401-014-1245-7

ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Neuropsychological function in nondemented carriers of presenilin-1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Increased frequency of learning disability in patients with primary progressive aphasia and their first-degree relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Frontotemporal dementia due to C9ORF72 mutations: clinical and imaging features

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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/10.1007%2FS00401-014-1245-7

TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Pathophysiological insights into ALS with C9ORF72 expansions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

Wild-type human TDP-43 expression causes TDP-43 phosphorylation, mitochondrial aggregation, motor deficits, and early mortality in transgenic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

Non-ATG-initiated translation directed by microsatellite expansions

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

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%2FS00401-014-1245-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-014-1245-7

10.1007/S00401-014-1245-7

21 January 2018

Identifiers

DOI

1 reference

3 February 2018

PubMed ID

24445903

1 reference

3 February 2018