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English
Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies
scientific article published on 01 March 2000
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
title
Loss of Dp140 regulatory sequences is associated with cognitive impairment in dystrophinopathies
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
main subject
cognitive dysfunction
1 reference
based on heuristic
inferred from title
author
Manuela Sironi
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Giacomo P Comi
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Nereo Bresolin
series ordinal
7
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
author name string
A Bardoni
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
G Felisari
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
M Lai
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
M Robotti
series ordinal
6
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
publication date
1 March 2000
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
published in
Neuromuscular Disorders
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
volume
10
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
page(s)
194-199
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
cites work
The clinical, genetic and dystrophin characteristics of Becker muscular dystrophy. I. Natural history
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of four alternative dystrophin transcripts in brain regions regulated by different promoters.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Central nervous system involvement in progressive muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cognitive impairment in Duchenne muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dp140: a novel 140 kDa CNS transcript from the dystrophin locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and clinical correlations of Xp21 muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Absence of brain Dp140 isoform and cognitive impairment in Becker muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Construction of a 2.6-Mb contig in yeast artificial chromosomes spanning the human dystrophin gene using an STS-based approach
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two polymorphic dinucleotide repeats in intron 44 of the dystrophin gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dystrophin is transcribed in brain from a distant upstream promoter.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cognitive dysfunction as the major presenting feature of Becker's muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical variability in Becker muscular dystrophy. Genetic, biochemical and immunohistochemical correlates.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Are Dp71 and Dp140 brain dystrophin isoforms related to cognitive impairment in Duchenne muscular dystrophy?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Point mutations in the dystrophin gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion status and intellectual impairment in Duchenne muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The rsp5-domain is shared by proteins of diverse functions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The WW domain: a signalling site in dystrophin?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dp140: alternatively spliced isoforms in brain and kidney.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900108-X
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0960-8966(99)00108-X
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
PubMed ID
10734267
1 reference
stated in
Europe PubMed Central
PubMed ID
10734267
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10734267%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
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