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

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40

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14 August 2017

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5

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34

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1

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Aleksey Shatunov

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3

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Caroline Vance

Caroline Vance

4

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Nicola Ticozzi

Nicola Ticozzi

28

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Stephen J. Newhouse

Stephen Newhouse

2

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Michael E. Weale

Michael E Weale

44

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Cinzia Gellera

Cinzia Gellera

26

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Ammar Al-Chalabi

Ammar Al-Chalabi

45

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Claire Troakes

Claire Troakes

9

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Vincenzo Silani

Vincenzo Silani

25

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Simon Lovestone

Simon Lovestone

19

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Pamela Shaw

Pamela J Shaw

33

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Peter J Nestor

Peter J Nestor

22

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Christopher Shaw

Christopher E Shaw

46

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Karen E Morrison

Karen E Morrison

36

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Michelle K Lupton

18

Michelle Lupton

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14 August 2017

32

Wim Robberecht

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14 August 2017

41

Peter M Andersen

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30

Jan Veldink

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11

Ashley Jones

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42

John Landers

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35

Hardev Pall

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15

Safa Al-Sarraj

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20

Peter C Sapp

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Helenius J Schelhaas

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14 August 2017

Leonard H van den Berg

29

Leonard Van den Berg

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Phillip Van Damme

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J M B Vianney de Jong

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J M B Vianney de Jong

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43

Robert H Brown

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Lauren Johnson

6

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Jack Miller

7

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Ian Gray

12

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Jamie Wright

13

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Tibor Hortobágyi

14

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14 August 2017

Boris Rogelj

16

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John Powell

17

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Markus Weber

21

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Anneloor Alm Ten Asbroek

24

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14 August 2017

Franco Taroni

27

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Alex Morris

37

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13 June 2012

1 reference

European Journal of Human Genetics

14 August 2017

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21

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1

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102-108

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14 August 2017

0 references

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

1 reference

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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

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The variant call format and VCFtools

30 September 2017

1 reference

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

30 September 2017

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

30 September 2017

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

30 September 2017

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30 September 2017

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

30 September 2017

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

30 September 2017

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

30 September 2017

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

30 September 2017

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

30 September 2017

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30 September 2017

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

30 September 2017

1 reference

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

30 September 2017

1 reference

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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

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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

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

28 June 2018

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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

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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

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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

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2012.98

1 reference

14 August 2017

1 reference

14 August 2017

1 reference