(Q24623830)

English

Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis

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scholarly article

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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis (English)

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amyotrophic lateral sclerosis

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whole genome sequencing

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based on heuristic

inferred from title

11

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Diether Lambrechts

12

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Philip Van Damme

13

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1

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Matthieu Moisse

object named as

Matthieu Moisse

3

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object named as

Joke Reumers

6

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object named as

An Goris

10

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Leonard H van den Berg

9

object named as

Leonard H van den Berg

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Helenius J Schelhaas

8

object named as

Helenius J Schelhaas

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4

object named as

Valérie Race

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5

object named as

Gert Matthijs

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author name string

Hui Zhao

2

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Benno Kusters

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language of work or name

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publication date

1 June 2012

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Human Molecular Genetics

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21

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11

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2412-9

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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=3349421

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

Exome sequencing reveals VCP mutations as a cause of familial ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

Mutations of optineurin in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

Amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

7 April 2017

VPS35 mutations in Parkinson disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

Genetics of neurodegenerative diseases: insights from high-throughput resequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

Cognitive impairment in amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

27 September 2017

Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

30 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

30 May 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

Three families with amyotrophic lateral sclerosis and frontotemporal dementia with evidence of linkage to chromosome 9p.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

TDP-43 M311V mutation in familial amyotrophic lateral sclerosis.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

The occurrence of mutations inFUSin a Belgian cohort of patients with familial ALS

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

Benefit of the Awaji diagnostic algorithm for amyotrophic lateral sclerosis: a prospective study.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS055

21 January 2018

Identification of 2 Loci at chromosomes 9 and 14 in a multiplex family with frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3349421

28 November 2018

Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22

1 reference

https://pubmed.ncbi.nlm.nih.gov/22343411

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDS055

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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