(Q47403937)

15 January 2018

title

Extensive size variability of the GGGGCC expansion in C9orf72 in both neuronal and non-neuronal tissues in 18 patients with ALS or FTD. (English)

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15 January 2018

amyotrophic lateral sclerosis

main subject

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11

Peter M Andersen

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15 January 2018

5

Pär Jonsson

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15 January 2018

author name string

Angelica Nordin

1

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15 January 2018

Chizuru Akimoto

2

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15 January 2018

Anna Wuolikainen

3

1 reference

15 January 2018

Helena Alstermark

4

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15 January 2018

Anna Birve

6

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15 January 2018

Stefan L Marklund

7

1 reference

15 January 2018

Karin S Graffmo

8

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15 January 2018

Karin Forsberg

9

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15 January 2018

Thomas Brännström

10

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15 January 2018

publication date

23 February 2015

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15 January 2018

published in

Human Molecular Genetics

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15 January 2018

volume

24

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15 January 2018

issue

11

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15 January 2018

page(s)

3133-3142

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15 January 2018

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Discovery of Novel DENN Proteins: Implications for the Evolution of Eukaryotic Intracellular Membrane Structures and Human Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Intermediate repeat expansion length in C9orf72 may be pathological in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

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/10.1093%2FHMG%2FDDV064

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

A blinded international study on the reliability of genetic testing for GGGGCC-repeat expansions in C9orf72 reveals marked differences in results among 14 laboratories

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Characterization of the repeat expansion size in C9orf72 in amyotrophic lateral sclerosis and frontotemporal dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Fiber-type composition of the human jaw muscles--(part 1) origin and functional significance of fiber-type diversity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Fiber-type composition of the human jaw muscles--(part 2) role of hybrid fibers and factors responsible for inter-individual variation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Muscle development: forming the head and trunk muscles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Repeat instability: mechanisms of dynamic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Somatic mutation, genomic variation, and neurological disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Frontotemporal lobar degeneration: a consensus on clinical diagnostic criteria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Principal component analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Orthogonal projections to latent structures (O-PLS)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

OPLS discriminant analysis: combining the strengths of PLS-DA and SIMCA classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDV064

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

21 January 2018

1 reference

5 May 2024

https://opencitations.net/index/api/v1/references/10.1093/HMG/DDV064

Identifiers

DOI

10.1093/HMG/DDV064

1 reference

15 January 2018

1 reference

15 January 2018