Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat (Q37121678)

18 August 2017

Residual association at C9orf72 suggests an alternative amyotrophic lateral sclerosis-causing hexanucleotide repeat (English)

1 reference

amyotrophic lateral sclerosis

18 August 2017

0 references

author

Cathryn Lewis

16

1 reference

18 August 2017

Kirsten M Scott

8

0 references

Ione O.C. Woollacott

Ione Woollacott

2

0 references

Johnathan Cooper-Knock

Johnathan Cooper-Knock

4

0 references

Bradley N. Smith

Bradley Smith

7

0 references

Aleksey Shatunov

Aleksey Shatunov

3

0 references

Vladimir Buchman

Vladimir Buchman

5

0 references

Ammar Al-Chalabi

Ammar Al-Chalabi

20

0 references

Pamela Shaw

Pamela J Shaw

13

0 references

Christopher Shaw

Christopher E Shaw

18

0 references

Karen E Morrison

Karen E Morrison

14

0 references

P Nigel Leigh

17

P Nigel Leigh

1 reference

18 August 2017

11

Peter McGuffin

1 reference

18 August 2017

1

Ashley R Jones

1 reference

18 August 2017

10

Olubunmi Abel

1 reference

18 August 2017

6

William Sproviero

1 reference

18 August 2017

9

Rubika Balendra

1 reference

18 August 2017

12

Catherine M Ellis

1 reference

18 August 2017

Anne Farmer

15

1 reference

PMC publication ID

3753508

18 August 2017

John F Powell

19

1 reference

18 August 2017

12 April 2013

1 reference

18 August 2017

Neurobiology of Aging

1 reference

18 August 2017

34

1 reference

18 August 2017

9

1 reference

18 August 2017

2234.e1-7

1 reference

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

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

C9ORF72 hexanucleotide repeat expansions in patients with ALS from the Coriell Cell Repository

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

Mutations in the profilin 1 gene cause 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=3753508

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

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

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=3753508

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=3753508

The risk to relatives of patients with sporadic 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=3753508

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

Exome sequencing reveals VCP mutations as a cause of familial 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=3753508

An estimate of amyotrophic lateral sclerosis heritability using twin data.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association 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=3753508

Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association 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=3753508

Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for 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=3753508

Mutations of optineurin in 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=3753508

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic 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=3753508

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

Mutations in the FUS/TLS gene on chromosome 16 cause 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=3753508

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with 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=3753508

Mapping short DNA sequencing reads and calling variants using mapping quality scores

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

TARDBP mutations in individuals with sporadic and 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=3753508

TDP-43 mutations in familial and sporadic 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=3753508

TDP-43 A315T mutation in familial motor neuron 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=3753508

PLINK: a tool set for whole-genome association and population-based linkage analyses

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

Mutations in Cu/Zn superoxide dismutase gene are associated with 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=3753508

Evidence for an oligogenic basis of 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=3753508

Modelling the effects of penetrance and family size on rates of sporadic and familial disease

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

Epidemiology of ALS in Italy: a 10-year prospective population-based study.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

Quadruplex-forming properties of FRAXA (CGG) repeats interrupted by (AGG) triplets

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

Amyotrophic lateral sclerosis in an urban setting

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3753508

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

4 December 2018

1 reference

12 December 2020

Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis

1 reference

12 December 2020

Deletions of the heavy neurofilament subunit tail in amyotrophic lateral sclerosis

1 reference

12 December 2020

Familial aggregation in amyotrophic lateral sclerosis

1 reference

12 December 2020

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

1 reference

12 December 2020

ATXN-2 CAG repeat expansions are interrupted in ALS patients

1 reference

12 December 2020

10.1016/J.NEUROBIOLAGING.2013.03.003

Identifiers

DOI

1 reference

18 August 2017

1 reference

PMC publication ID

3753508

18 August 2017

PubMed publication ID

23587638

1 reference

PMC publication ID

3753508