(Q28477407)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

title

A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

0 references

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Pierpaolo Sorrentino

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Filippo Maria Santorelli

object named as

Filippo M Santorelli

13

1 reference

ORCID Public Data File 2021

author name string

Giorgia Puorro

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Antonella Antenora

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Angela Marsili

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Alessandra Denaro

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Raffaele Piro

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Chiara Pane

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Alessandra Tessa

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Vincenzo Brescia Morra

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Sergio Cocozza

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Giuseppe De Michele

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

Alessandro Filla

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

language of work or name

English

0 references

publication date

11 March 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

volume

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

page(s)

e17627

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

25 January 2020

copyright license

start time

11 March 2011

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

describes a project that uses

ImageQuant

object named as

ImageQuant

ImageQuant TL

2 references

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3055871/fullTextXML

inferred from PubMed Central ID database lookup

CZ Software Mentions: A large dataset of software mentions in the biomedical literature

cites work

Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Iron-sulfur protein maturation in human cells: evidence for a function of frataxin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Relative expression software tool (REST©) for group-wise comparison and statistical analysis of relative expression results in real-time PCR

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Normal and Friedreich ataxia cells express different isoforms of frataxin with complementary roles in iron-sulfur cluster assembly

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Frataxin gene point mutations in Italian Friedreich ataxia patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Age of onset, sex, and cardiomyopathy as predictors of disability and survival in Friedreich's disease: a retrospective study on 119 patients.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

Friedreich's ataxia: oxidative stress and cytoskeletal abnormalities.

2 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0017627

Variations of frataxin protein levels in normal individuals.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3055871

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

27 November 2018

1 reference

12 December 2020

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit

1 reference

12 December 2020

Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene

1 reference

12 December 2020

Accuracy of clinical diagnostic criteria for Friedreich's ataxia

1 reference

12 December 2020

Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features

1 reference

12 December 2020

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

1 reference

12 December 2020

Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0017627

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21412413%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

PubMed publication ID

21412413

1 reference