(Q34732361)

4 August 2017

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion (English)

1 reference

amyotrophic lateral sclerosis

4 August 2017

0 references

author

Pietro Fratta

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Sarah Mizielinska

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Anny Devoy

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Kin Y Mok

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Selina Wray

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Alan Pittman

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Alan Renton

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Elizabeth M. C. Fisher

30

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

24

Bryan J Traynor

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

5

Tammaryn Lashley

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

25

Mary G Sweeney

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

author name string

James M Polke

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jia Newcombe

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Mark Poulter

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jon Beck

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Elisavet Preza

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Katie Sidle

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Robin Howard

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Andrea Malaspina

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Richard W Orrell

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Jan Clarke

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Ching-Hua Lu

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Toby Collins

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Maryam Shoaii

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Tina Nanji

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Gary Adamson

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Tamas Revesz

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Henry Houlden

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Simon Mead

28

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

Adrian M Isaacs

29

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

publication date

1 August 2014

1 reference

4 August 2017

Neurobiology of Aging

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

volume

36

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

page(s)

546.e1-7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

31 May 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

The C9ORF72 expansion mutation: gene structure, phenotypic and diagnostic issues.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

C9ORF72 repeat expansions in cases with previously identified pathogenic mutations

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Progressive amnestic dementia, hippocampal sclerosis, and mutation in C9ORF72.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

C9orf72 hexanucleotide repeat expansions in clinical Alzheimer disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

C9ORF72 expansion in a family with bipolar disorder

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Frontotemporal dementia in a Brazilian kindred with the c9orf72 mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

The cranial dura mater: a review of its history, embryology, and anatomy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Microsatellite repeat instability and neurological disease

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Embryology of the spine and associated congenital abnormalities.

7 July 2018

1 reference

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Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

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.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4270445

C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25179228

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.NEUROBIOLAGING.2014.07.037

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json

31 May 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25179228%20AND%20SRC:MED&resulttype=core&format=json