(Q37121525)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

title

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

main subject

dementia

0 references

frontotemporal dementia

1 reference

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Jonathan D Rohrer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Davina J Hensman Moss

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Adrian Waite

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Mang Ching Lai

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Elizabeth M. C. Fisher

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Jason D. Warren

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

4

Tammaryn Lashley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

18

John Collinge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

author name string

Mark Poulter

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

James M Polke

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Jon Beck

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Natalie Ryan

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Sarah Mizielinska

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Tania F Gendron

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Tamas Revesz

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Adrian M Isaacs

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Simon Mead

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

Leonard Petrucelli

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

publication date

2 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

published in

Acta Neuropathologica

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

volume

126

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

page(s)

401-409

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 2.0 Generic

4 March 2020

copyright license

start time

2 July 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1007/s00401-013-1147-0

0 references

cites work

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=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

TREM2 Variants in Alzheimer's Disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Variant of TREM2 Associated with the Risk of Alzheimer's Disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Partial loss of ataxin-1 function contributes to transcriptional dysregulation in spinocerebellar ataxia type 1 pathogenesis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

The two faces of protein misfolding: gain- and loss-of-function in neurodegenerative diseases

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Homozygosity for Asn86Ser mutation in the CuZn-superoxide dismutase gene produces a severe clinical phenotype in a juvenile onset case of familial amyotrophic lateral sclerosis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Homozygosity for CCTG mutation in myotonic dystrophy type 2.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Molecular and clinical study of two myotonic dystrophy homozygotes

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

Natural history of amyotrophic lateral sclerosis in a database population Validation of a scoring system and a model for survival prediction

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753468

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

3 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00401-013-1147-0

Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23818065

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Marked reduction of the Cu/Zn superoxide dismutase polypeptide in a case of familial amyotrophic lateral sclerosis with the homozygous mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23818065

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00401-013-1147-0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json

4 March 2020

PubMed publication ID

23818065

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23818065%20AND%20SRC:MED&resulttype=core&format=json