(Q36466470)

14 August 2017

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

1 reference

amyotrophic lateral sclerosis

14 August 2017

1 reference

40

1 reference

14 August 2017

Jacqueline de Belleroche

38

Jacqueline de Belleroche

0 references

Kirsten M Scott

Kirsten M Scott

10

0 references

Younbok Lee

Younbok Lee

8

0 references

Simon Topp

Simon Topp

5

0 references

Janine Kirby

Janine Kirby

34

0 references

Bradley N. Smith

Bradley N Smith

1

0 references

Aleksey Shatunov

Aleksey Shatunov

3

0 references

Caroline Vance

Caroline Vance

4

0 references

Nicola Ticozzi

Nicola Ticozzi

28

0 references

Stephen J. Newhouse

Stephen Newhouse

2

0 references

Michael E. Weale

Michael E Weale

44

0 references

Cinzia Gellera

Cinzia Gellera

26

0 references

Ammar Al-Chalabi

Ammar Al-Chalabi

45

0 references

Claire Troakes

Claire Troakes

9

0 references

Vincenzo Silani

Vincenzo Silani

25

0 references

Simon Lovestone

Simon Lovestone

19

0 references

Pamela Shaw

Pamela J Shaw

33

0 references

Peter J Nestor

Peter J Nestor

22

0 references

Christopher Shaw

Christopher E Shaw

46

0 references

Karen E Morrison

Karen E Morrison

36

0 references

Michelle K Lupton

18

Michelle Lupton

1 reference

14 August 2017

32

Wim Robberecht

1 reference

14 August 2017

41

Peter M Andersen

1 reference

14 August 2017

30

Jan Veldink

1 reference

14 August 2017

11

Ashley Jones

1 reference

14 August 2017

42

John Landers

1 reference

14 August 2017

35

Hardev Pall

1 reference

14 August 2017

15

Safa Al-Sarraj

1 reference

14 August 2017

20

Peter C Sapp

1 reference

14 August 2017

23

Helenius J Schelhaas

1 reference

14 August 2017

Leonard H van den Berg

29

Leonard Van den Berg

1 reference

14 August 2017

31

Phillip Van Damme

1 reference

14 August 2017

J M B Vianney de Jong

39

J M B Vianney de Jong

1 reference

14 August 2017

43

Robert H Brown

1 reference

14 August 2017

Lauren Johnson

6

1 reference

14 August 2017

Jack Miller

7

1 reference

14 August 2017

Ian Gray

12

1 reference

14 August 2017

Jamie Wright

13

1 reference

14 August 2017

Tibor Hortobágyi

14

1 reference

14 August 2017

Boris Rogelj

16

1 reference

14 August 2017

John Powell

17

1 reference

14 August 2017

Markus Weber

21

1 reference

14 August 2017

Anneloor Alm Ten Asbroek

24

1 reference

14 August 2017

Franco Taroni

27

1 reference

14 August 2017

Alex Morris

37

1 reference

14 August 2017

13 June 2012

1 reference

European Journal of Human Genetics

14 August 2017

1 reference

14 August 2017

21

1 reference

14 August 2017

1

1 reference

14 August 2017

102-108

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2012.98

14 August 2017

0 references

cites work

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=3522204

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

The variant call format and VCFtools

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

A cancer-associated DNA polymerase delta variant modeled in yeast causes a catastrophic increase in genomic instability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Nuclease-deficient FEN-1 blocks Rad51/BRCA1-mediated repair and causes trinucleotide repeat instability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Y chromosome evidence for Anglo-Saxon mass migration

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Progress in the pathogenesis of amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Using linked markers to infer the age of a mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

An MND/ALS phenotype associated with C9orf72 repeat expansion: abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Frontotemporal lobar degeneration genome wide association study replication confirms a risk locus shared with amyotrophic lateral sclerosis

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

The overlap of amyotrophic lateral sclerosis and frontotemporal dementia

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

DMLE+: Bayesian linkage disequilibrium gene mapping.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3522204

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 September 2018

1 reference

12 December 2020

Inhibition of flap endonuclease 1 by flap secondary structure and relevance to repeat sequence expansion

1 reference

12 December 2020

Monte Carlo tests for associations between disease and alleles at highly polymorphic loci

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.98

1 reference

14 August 2017

1 reference

14 August 2017

1 reference