Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone? (Q34875097)

5 August 2017

Can ALS-associated C9orf72 repeat expansions be diagnosed on a blood DNA test alone? (English)

1 reference

amyotrophic lateral sclerosis

5 August 2017

1 reference

Roger Pamphlett

1

1 reference

5 August 2017

Pak Leng Cheong

series ordinal

2

1 reference

5 August 2017

Ronald J Trent

series ordinal

3

1 reference

5 August 2017

Bing Yu

series ordinal

4

1 reference

5 August 2017

language of work or name

English

0 references

publication date

19 July 2013

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5 August 2017

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5 August 2017

8

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5 August 2017

7

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5 August 2017

e70007

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Creative Commons Attribution 4.0 International

5 August 2017

start time

19 July 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Controversies and priorities in amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Extensive genetics of ALS: a population-based study in Italy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Rate of familial amyotrophic lateral sclerosis: a systematic review and meta-analysis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

An estimate of amyotrophic lateral sclerosis heritability using twin data.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Dissecting complex phenotypes using the genomics of twins

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

A genome-wide analysis of brain DNA methylation identifies new candidate genes for sporadic amyotrophic lateral sclerosis.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Mechanisms and consequences of somatic mosaicism in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Amyotrophic lateral sclerosis: toxins and environment

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Brain regional differences in the expansion of a CAG repeat in the spinocerebellar ataxias: dentatorubral-pallidoluysian atrophy, Machado-Joseph disease, and spinocerebellar ataxia type 1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

Retroviruses as probes for mammalian development: allocation of cells to the somatic and germ cell lineages.

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

Timing of de novo mutagenesis--a twin study of sodium-channel mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

CNS tissue Cu/Zn superoxide dismutase (SOD1) mutations in motor neurone disease (MND).

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

DHPLC can be used to detect low-level mutations in amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

Transmission of C9orf72 hexanucleotide repeat expansions in sporadic amyotrophic lateral sclerosis: an Australian trio study

21 January 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

26 October 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

An analysis of the entire SOD1 gene in sporadic ALS

21 January 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3716700

26 October 2018

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

A comparison of the lengths of androgen receptor triplet repeats in brain and blood in motor neuron diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

Age at onset in sod1-mediated amyotrophic lateral sclerosis shows familiality

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0070007

Somatic mutation: a cause of sporadic neurodegenerative diseases?

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23894576

12 December 2020

inferred from PubMed ID database lookup

Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23894576

12 December 2020

inferred from PubMed ID database lookup

Familial ALS: less common than we think?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23894576

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0070007

1 reference

release_e6lq63w6hfefxls4pfmon527xa

5 August 2017

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/e6lq63w6hfefxls4pfmon527xa

24 November 2022

mapped directly with Wikidata item

PMCID

3716700

1 reference

5 August 2017

1 reference