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Unusual phenotypic expression of the DYT1 mutation
scientific article published on 01 June 2003
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
title
Unusual phenotypic expression of the DYT1 mutation
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
author name string
Emilia Mabel Gatto
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
Manuel María Fernandez Pardal
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
Federico Eduardo Micheli
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
publication date
1 June 2003
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
number of pages
3
1 reference
based on heuristic
inferred from page(s)
published in
Parkinsonism and Related Disorders
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
volume
9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
issue
5
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
page(s)
277-279
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
cites work
The DYT1 phenotype and guidelines for diagnostic testing
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detailed haplotype analysis in Ashkenazi Jewish and non-Jewish British dystonic patients carrying the GAG deletion in the DYT1 gene: evidence for a limited number of founder mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Frequency of the DYT1 mutation in primary torsion dystonia without family history
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic variability of the DYT1 mutation in German dystonia patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DYT1 mutation in French families with idiopathic torsion dystonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The role of DYT1 in primary torsion dystonia in Europe
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic expression of the DYT1 mutation: a family with writer's cramp of juvenile onset.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Myoclonic dystonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Generalized reflex myoclonus in a patient with alcohol-sensitive spontaneous myoclonus and an abnormal gait
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A major locus for several phenotypes of myoclonus--dystonia on chromosome 7q.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The anatomical basis of symptomatic hemidystonia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Late-onset axial jerky dystonia due to the DYT1 deletion
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1353-8020%2802%2900128-1
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S1353-8020(02)00128-1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
PubMed publication ID
12781594
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12781594
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12781594%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
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