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English
Expanded GAA repeats and clinical variation in Friedreich's ataxia
scientific article published on 01 January 2004
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
title
Expanded GAA repeats and clinical variation in Friedreich's ataxia
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
main subject
Friedreich ataxia
1 reference
based on heuristic
inferred from title
author name string
I Mateo
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
J Llorca
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
V Volpini
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
J Corral
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
J Berciano
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
O Combarros
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
publication date
1 January 2004
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
published in
Acta Neurologica Scandinavica
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
volume
109
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
page(s)
75-78
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
cites work
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/10.1034%2FJ.1600-0404.2003.00190.X
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/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich's ataxia presenting with pure sensory ataxia: a long-term follow-up study of two patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Friedreich ataxia with minimal GAA expansion presenting as adult-onset spastic ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolated spastic paraparesis leading to diagnosis of Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular genetic diagnosis of Friedreich's ataxia in a pedigree with apparent autosomal dominant spinocerebellar degeneration
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
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/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Atypical Friedreich ataxia with a very late onset and an unusual limited GAA repeat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Determinants of onset age in Friedreich's ataxia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
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/10.1034%2FJ.1600-0404.2003.00190.X
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/10.1034%2FJ.1600-0404.2003.00190.X
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/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Influence of GAA expansion size and disease duration on central nervous system impairment in Friedreich's ataxia: contribution to the understanding of the pathophysiology of the disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1034%2FJ.1600-0404.2003.00190.X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1034/J.1600-0404.2003.00190.X
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
PubMed publication ID
14653855
1 reference
stated in
Europe PubMed Central
PubMed publication ID
14653855
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14653855%20AND%20SRC:MED&resulttype=core&format=json
retrieved
21 December 2019
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