(Q36666933)

English

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

scientific article published on 21 February 2013

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

neurodegeneration

1 reference

based on heuristic

inferred from title

14

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Sarah J. Tabrizi

23

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Davina J Hensman Moss

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jonathan D Rohrer

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Colin J Mahoney

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

10

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

21

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

22

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jason D. Warren

26

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

16

object named as

John Hodges

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jonathan M Schott

20

object named as

Jonathan M Schott

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

John Anthony Hardy

25

object named as

John Hardy

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

1

object named as

Jon Beck

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

27

object named as

John Collinge

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

28

object named as

Simon Mead

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Adrian M Isaacs

24

object named as

Adrian M Isaacs

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

8

object named as

James Uphill

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

2

object named as

Mark Poulter

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

17

object named as

Katie Sidle

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

author name string

Gary Adamson

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Tracy Campbell

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Aaron Borg

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Richard W Orrell

12

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Andrea Malaspina

13

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Jeremy Brown

15

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

James M Polke

18

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

Henry Houlden

19

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

language of work or name

0 references

publication date

21 February 2013

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

American Journal of Human Genetics

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

92

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

345-353

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

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=3591848

30 September 2017

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=3591848

30 September 2017

Repeat expansion 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=3591848

30 September 2017

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=3591848

30 September 2017

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=3591848

30 September 2017

The risk to relatives of patients with sporadic amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

Chromosome 9 ALS and FTD locus is probably derived from a single founder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

The heritability and genetics of frontotemporal lobar degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

Incidence and lifetime risk of motor neuron disease in the United Kingdom: a population-based study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

Extreme clonality in lymphoblastoid cell lines with implications for allele specific expression analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

Sports and trauma in amyotrophic lateral sclerosis revisited

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

Expandable DNA repeats and human disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

Clonal evolution of lymphoblastoid cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

A high-resolution recombination map of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

30 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

20 September 2018

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

20 September 2018

C9orf72 repeat expansions in patients with ALS and FTD.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

20 September 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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

20 September 2018

Incidence of early-onset dementias in Cambridgeshire, United Kingdom.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

20 September 2018

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

20 September 2018

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3591848

20 September 2018

The incidence of frontotemporal lobar degeneration in Rochester, Minnesota, 1990 through 1994

1 reference

https://pubmed.ncbi.nlm.nih.gov/23434116

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Scottish Motor Neuron Disease Register: a prospective study of adult onset motor neuron disease in Scotland. Methodology, demography and clinical features of incident cases in 1989

1 reference

https://pubmed.ncbi.nlm.nih.gov/23434116

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2013.01.011

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23434116%20AND%20SRC:MED&resulttype=core&format=json

24 February 2020

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q36666933&oldid=2043599959"