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Emery-Dreifuss muscular dystrophy
scientific article (publication date: March 2002)
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scholarly article
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review article
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title
Emery-Dreifuss muscular dystrophy
(English)
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main subject
muscular dystrophy
1 reference
based on heuristic
inferred from title
author
Gisèle Bonne
object named as
Gisèle Bonne
series ordinal
2
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author name string
Anne Helbling-Leclerc
series ordinal
1
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Ketty Schwartz
series ordinal
3
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language of work or name
English
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publication date
March 2002
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published in
European Journal of Human Genetics
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volume
10
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issue
3
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page(s)
157-61
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cites work
Emery-Dreifuss muscular dystrophy - a 40 year retrospective
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
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Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery–Dreifuss muscular dystrophy patients and carriers
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
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Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
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Review: nuclear lamins--structural proteins with fundamental functions
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
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Genomic structure of the mouse A-type lamin gene locus encoding somatic and germ cell-specific lamins
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lamin A/C Gene Mutation Associated With Dilated Cardiomyopathy With Variable Skeletal Muscle Involvement
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
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/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interaction between emerin and nuclear lamins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Direct interaction between emerin and lamin A
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Emery-Dreifuss Muscular Dystrophy Mutation Database
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear changes in a case of X-linked Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Nuclear alterations in autosomal-dominant Emery-Dreifuss muscular dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200744
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/SJ.EJHG.5200744
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3256138
Dimensions Publication ID
1045886141
0 references
OpenCitations bibliographic resource ID
3256138
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3256138
PubMed ID
11973618
1 reference
stated in
Consolidated OpenCitations Corpus – April 2017
OpenCitations bibliographic resource ID
3256138
ResearchGate publication ID
11394485
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Springer Nature article ID
10.1038/sj.ejhg.5200744
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