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Friedreich's ataxia
scientific article published on 01 May 2003
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
review article
1 reference
stated in
Europe PubMed Central
title
Friedreich's ataxia
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
main subject
Friedreich ataxia
1 reference
based on heuristic
inferred from title
author
Vinodh Narayanan
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
author name string
Gulay Alper
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
publication date
1 May 2003
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
published in
Pediatric Neurology
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
volume
28
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
page(s)
335-341
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
cites work
Molecular pathogenesis of Friedreich ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich ataxia: an overview
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Differential stability of the (GAA) n tract in the Friedreich ataxia (STM7) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and genetic abnormalities in patients with Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and genetic study of Friedreich ataxia in an Australian population.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich's ataxia. Revision of the phenotype according to molecular genetics.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the friedreich's ataxia locus on chromosome 9q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich's ataxia with retained tendon reflexes: molecular genetics, clinical neurophysiology, and magnetic resonance imaging
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
"Acadian" and "classical" forms of Friedreich ataxia are most probably caused by mutations at the same locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The neuropathology of "typical" Friedreich's ataxia in Quebec.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypotrophic and dying-back nerve fibers in Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frataxin gene of Friedreich's ataxia is targeted to mitochondria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case with prolonged survival.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Broadened Friedreich's ataxia phenotype after gene cloning. Minimal GAA expansion causes late-onset spastic ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Recent advances in the molecular pathogenesis of Friedreich ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regulation of mitochondrial iron accumulation by Yfh1p, a putative homolog of frataxin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Normal serum iron and ferritin concentrations in patients with Friedreich's ataxia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heart hypertrophy and function are improved by idebenone in Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial dysfunction in Friedreich's ataxia: from pathogenesis to treatment perspectives
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0887-8994%2803%2900004-3
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0887-8994(03)00004-3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
PubMed publication ID
12878293
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12878293
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12878293%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
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