About: Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

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About: Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) հոդված (hy) wetenschappelijk artikel (nl) наукова стаття, опублікована в серпні 2000 (uk) im August 2000 veröffentlichter wissenschaftlicher Artikel (de) article scientifique publié en août 2000 (fr)
publication date	wds:Q57640076-947B1E1B-50B5-44F4-BD90-64EBD08B4F41 wds:Q57640076-BF7C2D9D-2E73-4A9F-954F-B08AEFAA9E8A
publication date	2000-08-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q57640076-00245F77-9D32-4392-A7B1-37091DDD14A3 wds:Q57640076-024B9B6E-F759-4B18-B19D-42D2872C9316 wds:Q57640076-0FEEE13E-432C-4874-8937-86F8CE8FCFDA wds:Q57640076-23D024B1-4430-4822-9B50-A45B9468858B wds:Q57640076-30BA66CE-8DD6-4AED-9D04-E9CD777952F8 wds:Q57640076-44328FE6-2CC6-42FF-BCB0-C2F8AB4A9C72 wds:Q57640076-491E07A3-E3C4-4B7A-B29D-49AF85431C03 wds:Q57640076-4C036EC7-8B62-4CED-BBF1-1A259436D7A6 wds:Q57640076-607284DC-6A02-419C-8AA1-497C4D857FA7 wds:Q57640076-6726E568-CDCB-4C23-A35B-309C052D7307 wds:Q57640076-6EB31BE2-EC5D-4E25-806B-19A0D7434F76 wds:Q57640076-7F41E862-5F62-41C6-978C-7B783FC2E2ED wds:Q57640076-8DCD5B21-E24D-4FC6-A5FB-707E634AEE2F wds:Q57640076-9124A4F2-04C3-4C10-8443-A05D7D6CE8DF wds:Q57640076-A9CDE1BC-D2C4-4CBB-81AA-51D7A1EDADE4 wds:Q57640076-AA519F7D-4B42-4CEC-804E-A211924BB9C9 wds:Q57640076-B024FA8C-4926-4457-8EA7-E460490CCAC8 wds:Q57640076-BEBDAED3-AAFA-4BE6-826F-0AC807C70EFA wds:Q57640076-E845708D-781A-4805-B4FF-B8FF9605CD7F wds:Q57640076-EE71C290-D1D3-4EE8-A87D-F7CA7D99187B wds:Q57640076-FE45C147-04D3-4A81-A86E-3D6B5EB6F6A9
author name string	D. Toniolo K. Schwartz M. Wehnert B. Eymard E. Mercuri A. Urtizberea D. Lacombe C. Pollitt D. Duboc D. Recan E. M. Wicklein H. M. Bécane I. Desguerre J. M. Cuisset K. Bushby M. Fardeau M. Vorgerd R. Boor U. Reuner X. Ferrer I. Penisson-Besnier
rdfs:label	Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (en) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (nl)
skos:prefLabel	Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (en) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (nl)
name	Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (en) Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (nl)
author	wds:Q57640076-30145F66-FCC9-431A-957A-DA85EC135CF7 wds:Q57640076-54B79218-0416-4F3A-B2DC-E5BBFD3CDC64 wds:Q57640076-9C1FD5E1-878E-4FE7-B335-444E80D49279 wds:Q57640076-DA8CF8F3-1B4E-463A-A701-858E94D72C96
author	Antoine Muchir Francesco Muntoni Luciano Merlini Gisèle Bonne
title	wds:Q57640076-FE7A8ACD-B6BA-46DA-9BF2-26CF0630684B
title	Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene (en)
page(s)	wds:Q57640076-8D5B5E64-C97D-4D19-A7CD-3A5428739C40
page(s)	170-180
instance of	wds:Q57640076-98927061-BF75-4971-85E3-14368A24924D
instance of	scholarly article
main subject	wds:Q57640076-1ABFED14-EF5A-47C7-919E-97EDBD2F751E wds:Q57640076-44EA3D74-1B33-4D34-9EE0-A927254D16E5
main subject	Emery-Dreifuss muscular dystrophy autosomal dominant Emery-Dreifuss muscular dystrophy
PubMed ID	wds:Q57640076-E4DF4E96-4158-4621-B9CF-6195D43F8DB2
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/10939567
PubMed ID	10939567
published in	wds:Q57640076-CD74C215-AFFA-4ED3-9A07-DCE95486F0A6
published in	Annals of Neurology
issue	wds:Q57640076-88286D80-A25D-4810-BE46-77E2E62C8955
volume	wds:Q57640076-7F6FC9C1-6A9B-4B05-BA8B-A5D26716FE47
issue	2
volume	48
DOI	wds:Q57640076-A44D1549-366E-42EB-8D50-3CFEA3806048
DOI	http://dx.doi.org/10.1002/1531-8249(200008)48:2%3C170::AID-ANA6%3E3.0.CO;2-J
DOI	10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J
is owl:sameAs of	Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57640076
is cites work of	The effect of the lamin A and its mutants on nuclear structure, cell proliferation, protein stability, and mobility in embryonic cells Cardiomyocyte-specific expression of lamin a improves cardiac function in Lmna-/- mice Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells. Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated. A promiscuous biotin ligase fusion protein identifies proximal and interacting proteins in mammalian cells Systematic identification of pathological lamin A interactors The nuclear envelope in muscular dystrophy and cardiovascular diseases Emery-Dreifuss muscular dystrophy A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

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