(Q34376985)

1 August 2017

A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia (English)

1 reference

1 August 2017

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

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2010.07.001

14 June 2024

1 reference

3

Susan L Perlman

1 reference

1 August 2017

Eric C. Deutsch

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

14 June 2024

Avni B. Santani

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

14 June 2024

Susan L. Perlman

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

14 June 2024

Jennifer M. Farmer

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

14 June 2024

Catherine A. Stolle

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

14 June 2024

Michael F. Marusich

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

14 June 2024

David R. Lynch

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

14 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20675166

14 June 2024

publication date

8 July 2010

1 reference

full work available at URL

1 August 2017

https://europepmc.org/articles/pmc2996613?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20675166/?tool=EBI

14 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20675166/pdf/?tool=EBI

14 June 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

https://europepmc.org/articles/PMC2996613

14 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

https://europepmc.org/articles/PMC2996613?pdf=render

14 June 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

https://doi.org/10.1016/j.ymgme.2010.07.001

14 June 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20675166

https://api.elsevier.com/content/article/PII:S109671921000257X?httpAccept=text/xml

14 June 2024

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2010.07.001

https://api.elsevier.com/content/article/PII:S109671921000257X?httpAccept=text/plain

14 June 2024

1 reference

https://api.crossref.org/works/10.1016/J.YMGME.2010.07.001

Molecular Genetics and Metabolism

14 June 2024

published in

1 reference

1 August 2017

101

1 reference

1 August 2017

2-3

1 reference

1 August 2017

238-245

1 reference

Opposing effects of dietary sugar and saturated fat on cardiovascular risk factors and glucose metabolism in mitochondrially impaired mice

1 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

A high throughput electrochemiluminescence assay for the quantification of frataxin protein levels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Measuring the rate of progression in Friedreich ataxia: implications for clinical trial design

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Hypoxia-inducible factor 2alpha regulates expression of the mitochondrial aconitase chaperone protein frataxin

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Iron dysregulation in Friedreich ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Rational selection of small molecules that increase transcription through the GAA repeats found in Friedreich's ataxia.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Friedreich's ataxia: from disease mechanisms to therapeutic interventions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Clinical and genetic abnormalities in patients with Friedreich's ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Clinical and genetic study of Friedreich ataxia in an Australian population.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2996613

Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

9 December 2018

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.001

Friedreich's ataxia: clinical pilot trial with recombinant human erythropoietin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.001

Recombinant human erythropoietin increases frataxin protein expression without increasing mRNA expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.001

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.07.001

7 January 2021

Identifiers

1 reference

1 August 2017

1 reference

1 August 2017

1 reference