Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion (Q28608607)

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English	Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion	scientific article

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instance of

scholarly article

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title

Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion (English)

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author

Hannah Pliner

object named as

Hannah A Pliner

series ordinal

1

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Bryan Traynor

series ordinal

3

object named as

Bryan J Traynor

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author name string

David M Mann

series ordinal

2

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language of work or name

English

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publication date

March 2014

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published in

Acta Neuropathologica

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volume

127

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issue

3

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page(s)

391-6

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cites work

State of play in amyotrophic lateral sclerosis genetics

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17 March 2017

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

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17 March 2017

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

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17 March 2017

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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PubMed Central

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17 March 2017

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

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PubMed Central

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17 March 2017

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

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PubMed Central

reference URL

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17 March 2017

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

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17 March 2017

Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia

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17 March 2017

Lack of C9ORF72 coding mutations supports a gain of function for repeat expansions in amyotrophic lateral sclerosis

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PubMed Central

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29 September 2017

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

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PubMed Central

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29 September 2017

A pan-European study of the C9orf72 repeat associated with FTLD: geographic prevalence, genomic instability, and intermediate repeats

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PubMed Central

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29 September 2017

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

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29 September 2017

Expanding the genetics of amyotrophic lateral sclerosis and frontotemporal dementia

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PubMed Central

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29 September 2017

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

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PubMed Central

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4545603

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29 September 2017

Road to the chromosome 9p-linked ALS/FTD locus

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PubMed Central

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29 September 2017

Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72.

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PubMed Central

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29 September 2017

Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations

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PubMed Central

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29 September 2017

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

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PubMed Central

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29 September 2017

A Genomic Portrait of Human Microsatellite Variation

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PubMed Central

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29 September 2017

Ethnic variation in the incidence of ALS: a systematic review

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29 September 2017

Novel tau polymorphisms, tau haplotypes, and splicing in familial and sporadic frontotemporal dementia

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PubMed Central

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29 September 2017

Human population genetics: lessons from Finland

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PubMed Central

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29 September 2017

Molecular genetics of the Finnish disease heritage.

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PubMed Central

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29 September 2017

De novo myotonic dystrophy mutation in a Nigerian kindred.

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29 September 2017

Identification of C9orf72 repeat expansions in patients with amyotrophic lateral sclerosis and frontotemporal dementia in mainland China.

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PubMed Central

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3 June 2018

C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect

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PubMed Central

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3 June 2018

Evidence of a founder effect in families with frontotemporal dementia that harbor the tau +16 splice mutation

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PubMed Central

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3 June 2018

Recent origin and spread of a common Welsh MAPT splice mutation causing frontotemporal lobar degeneration.

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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

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21 January 2018

C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan

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21 January 2018

Japanese amyotrophic lateral sclerosis patients with GGGGCC hexanucleotide repeat expansion in C9ORF72.

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21 January 2018

Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world

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21 January 2018

Amyotrophic lateral sclerosis in Middle-Finland: an epidemiological study

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21 January 2018

Analysis of C9orf72 repeat expansion in 563 Japanese patients with amyotrophic lateral sclerosis.

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21 January 2018

Frontotemporal dementia with amyotrophic lateral sclerosis: a clinical comparison of patients with and without repeat expansions in C9orf72.

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21 January 2018

High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation

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retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Origin of the expansion mutation in myotonic dystrophy

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/24496499

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00401-014-1250-X

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Dimensions Publication ID

1031294339

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PMC publication ID

4545603

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PubMed publication ID

24496499

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