(Q48310101)

10 February 2018

title

The C9orf72 repeat expansion itself is methylated in ALS and FTLD patients. (English)

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10 February 2018

amyotrophic lateral sclerosis

main subject

patient

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6

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10 February 2018

Daniela Galimberti

16

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10 February 2018

Elisa Rubino

Elisa Rubino

14

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Benedetta Nacmias

Benedetta Nacmias

10

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Sandro Sorbi

Sandro Sorbi

11

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Ekaterina Rogaeva

26

Ekaterina Rogaeva

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10 February 2018

17

Ezequiel I Surace

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10 February 2018

Janice L Robertson

25

Janice Robertson

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10 February 2018

Innocenzo Rainero

13

Innocenzo Rainero

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10 February 2018

Maria Carmela Tartaglia

12

Maria Carmela Tartaglia

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10 February 2018

Philip McGoldrick

18

Philip McGoldrick

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10 February 2018

Paul McKeever

19

Paul McKeever

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10 February 2018

Christine Sato

21

Christine Sato

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10 February 2018

Amalia Bruni

3

Amalia C Bruni

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10 February 2018

Rosanna Colao

5

Rosanna Colao

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10 February 2018

Lorenzo Pinessi

15

Lorenzo Pinessi

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10 February 2018

Mary G. Sweeney

8

Mary G Sweeney

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10 February 2018

Raffaele Maletta

4

Raffaele G Maletta

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10 February 2018

author name string

Zhengrui Xi

1

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10 February 2018

Ming Zhang

2

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10 February 2018

James M Polke

7

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10 February 2018

Ese Mudanohwo

9

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10 February 2018

Danielle Moreno

20

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10 February 2018

Yan Liang

22

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10 February 2018

Julia Keith

23

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10 February 2018

Lorne Zinman

24

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10 February 2018

publication date

26 February 2015

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10 February 2018

published in

Acta Neuropathologica

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10 February 2018

volume

129

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10 February 2018

issue

5

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10 February 2018

page(s)

715-727

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10 February 2018

https://scigraph.springernature.com/pub.10.1007/s00401-015-1401-8

exact match

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cites work

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Characterization of DNA hypermethylation in the cerebellum of c9FTD/ALS patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

C9ORF72 transcription in a frontotemporal dementia case with two expanded alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

DNA secondary structures and epigenetic determinants of cancer genome evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

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/10.1007%2FS00401-015-1401-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

FXN methylation predicts expression and clinical outcome in Friedreich ataxia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

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/10.1007%2FS00401-015-1401-8

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

C9orf72 nucleotide repeat structures initiate molecular cascades of disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Guanine quadruplex DNA structure restricts methylation of CpG dinucleotides genome-wide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Motor neuron disease and frontotemporal dementia: sometimes related, sometimes not.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

The role of DNA methylation in mammalian epigenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

MethPrimer: designing primers for methylation PCRs

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

C9orf72 hypermethylation protects against repeat expansion-associated pathology in ALS/FTD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Dipeptide repeat proteins are present in the p62 positive inclusions in patients with frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Absence of expression of the FMR-1 gene in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9ORF72 mutation and intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

C9orf72 repeat expansions in patients with ALS and FTD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

The disease-associated r(GGGGCC)n repeat from the C9orf72 gene forms tract length-dependent uni- and multimolecular RNA G-quadruplex structures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

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/10.1007%2FS00401-015-1401-8

Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Reduced C9orf72 protein levels in frontal cortex of amyotrophic lateral sclerosis and frontotemporal degeneration brain with the C9ORF72 hexanucleotide repeat expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

A general method for the detection of large CAG repeat expansions by fluorescent PCR

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Hypermethylation of the CpG-island near the C9orf72 G₄C₂-repeat expansion in FTLD patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Identical twins with the C9orf72 repeat expansion are discordant for ALS

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Investigation of c9orf72 in 4 neurodegenerative disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Hypermethylation of the CpG island near the G4C2 repeat in ALS with a C9orf72 expansion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00401-015-1401-8

10.1007/S00401-015-1401-8

21 January 2018

Identifiers

DOI

1 reference

10 February 2018

PubMed ID

25716178

1 reference

10 February 2018