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The Emery-Dreifuss Muscular Dystrophy Mutation Database
scientific article published on 01 May 1999
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
title
The Emery-Dreifuss Muscular Dystrophy Mutation Database
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
main subject
Emery-Dreifuss muscular dystrophy
1 reference
based on heuristic
inferred from title
author name string
Yates JR
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
Wehnert M
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
publication date
1 May 1999
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
published in
Neuromuscular Disorders
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
volume
9
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
page(s)
199
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
cites work
Emery-Dreifuss syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Emery-Dreifuss muscular dystrophy: linkage to markers in distal Xq28.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X linked muscular dystrophy with contractures.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diagnosis of X-linked Emery-Dreifuss muscular dystrophy by protein analysis of leucocytes and skin with monoclonal antibodies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Emery-Dreifuss muscular dystrophy with unusual features
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac Features of an Unusual X-Linked Humeroperoneal Neuromuscular Disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Emery‐dreifuss humeroperoneal muscular dystorphy: An X‐linked myopathy with unusual contractures and bradycardia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Survival in x-chromosomal muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Unusual type of benign x-linked muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A linkage study of Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Linkage of Emery-Dreifuss muscular dystrophy to the red/green cone pigment (RGCP) genes, proximal to factor VIII.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked scapuloperoneal syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
European Workshop on Emery-Dreifuss Muscular Dystrophy 1991
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SSCP detection of novel mutations in patients with Emery-Dreifuss muscular dystrophy: definition of a small C-terminal region required for emerin function
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked emery-dreifuss muscular dystrophy can be diagnosed from skin biopsy or blood sample
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation and characterization of the complete mouse emerin gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0960-8966%2898%2900121-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0960-8966(98)00121-7
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
Fatcat ID
release_xyozapoe2bcy7jft4rlionibzy
0 references
PubMed publication ID
10382916
1 reference
stated in
Europe PubMed Central
PubMed publication ID
10382916
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10382916%20AND%20SRC:MED&resulttype=core&format=json
retrieved
9 December 2019
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