(Q47872898)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22522441%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

FXN methylation predicts expression and clinical outcome in Friedreich ataxia (English)

1 reference

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29 January 2020

1 reference

9

1 reference

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29 January 2020

Simone M Rowley

3

1 reference

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29 January 2020

Nick Wong

8

1 reference

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29 January 2020

6

Richard Saffery

1 reference

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29 January 2020

19

Martin B Delatycki

1 reference

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29 January 2020

author name string

Marguerite V Evans-Galea

1

1 reference

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29 January 2020

Nissa Carrodus

2

1 reference

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29 January 2020

Louise A Corben

4

1 reference

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29 January 2020

Geneieve Tai

5

1 reference

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29 January 2020

John C Galati

7

1 reference

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29 January 2020

David R Lynch

10

1 reference

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29 January 2020

Sean R Regner

11

1 reference

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29 January 2020

Alicia F D Brocht

12

1 reference

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29 January 2020

Susan L Perlman

13

1 reference

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29 January 2020

Khalaf O Bushara

14

1 reference

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29 January 2020

Christopher M Gomez

15

1 reference

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29 January 2020

George R Wilmot

16

1 reference

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29 January 2020

Lingli Li

17

1 reference

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29 January 2020

Elizabeth Varley

18

1 reference

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29 January 2020

Joseph P Sarsero

20

1 reference

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29 January 2020

publication date

1 April 2012

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29 January 2020

1 reference

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29 January 2020

volume

71

1 reference

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29 January 2020

issue

4

1 reference

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29 January 2020

page(s)

487-497

1 reference

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Perceptions of epigenetics

29 January 2020

cites work

1 reference

Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies

21 January 2018

1 reference

Friedreich ataxia: an overview

21 January 2018

1 reference

Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients.

21 January 2018

1 reference

Diagnosis and treatment of Friedreich ataxia: a European perspective

21 January 2018

1 reference

Mortality in Friedreich ataxia

21 January 2018

1 reference

Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes

21 January 2018

1 reference

Iron-sulfur cluster biogenesis and human disease

21 January 2018

1 reference

Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities

21 January 2018

1 reference

Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant

21 January 2018

1 reference

Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates

21 January 2018

1 reference

Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia

21 January 2018

1 reference

The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure

21 January 2018

1 reference

Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers.

21 January 2018

1 reference

Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers

21 January 2018

1 reference

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

21 January 2018

1 reference

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

21 January 2018

1 reference

Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia

21 January 2018

1 reference

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

21 January 2018

1 reference

Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia.

21 January 2018

1 reference

HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model

21 January 2018

1 reference

DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients.

21 January 2018

1 reference

Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector

21 January 2018

1 reference

Infectious Delivery and Expression of a 135 kb Human FRDA Genomic DNA Locus Complements Friedreich's Ataxia Deficiency in Human Cells

21 January 2018

1 reference

A phase 3, double-blind, placebo-controlled trial of idebenone in friedreich ataxia

21 January 2018

1 reference

Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale.

21 January 2018

1 reference

Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry

21 January 2018

1 reference

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

21 January 2018

1 reference

Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues

21 January 2018

1 reference

Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia

21 January 2018

1 reference

The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model

21 January 2018

1 reference

Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF.

21 January 2018

1 reference

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.

21 January 2018

1 reference

An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals

21 January 2018

1 reference

Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription

21 January 2018

1 reference

Mechanisms of disease: the developmental origins of disease and the role of the epigenotype.

21 January 2018

1 reference

Chromatin remodeling in the noncoding repeat expansion diseases

21 January 2018

1 reference

Epigenomic profiling reveals DNA-methylation changes associated with major psychosis

21 January 2018

1 reference

Aberrant DNA methylation associated with bipolar disorder identified from discordant monozygotic twins

21 January 2018

1 reference

Serotonin transporter mRNA levels are associated with the methylation of an upstream CpG island

21 January 2018

1 reference

DNA methylation and gene expression differences in children conceived in vitro or in vivo

21 January 2018

1 reference

Periconceptional maternal folic acid use of 400 microg per day is related to increased methylation of the IGF2 gene in the very young child

21 January 2018

1 reference

Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing

21 January 2018

1 reference

Gene therapy approaches to ataxias.

21 January 2018

1 reference

Generation of induced pluripotent stem cell lines from Friedreich ataxia patients.

21 January 2018

1 reference