About: Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification

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About: Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification Goto Sponge NotDistinct Permalink

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scientific article published on 31 August 2010

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2010 (ast) наукова стаття, опублікована в серпні 2010 (uk) scientific article published on 31 August 2010 (en) مقالة علمية نشرت في 31 أغسطس 2010 (ar)
publication date	wds:Q37784429-2DD0DADB-002E-47D0-AEC5-DA14CAF8501A
publication date	2010-08-31 00:00:00Z (xsd:dateTime)
exact match	wds:Q37784429-6D87D802-D0A9-4572-A176-4E03E59FB331
exact match	https://scigraph.springernature.com/pub.10.1007/s12017-010-8134-6
cites work	wds:Q37784429-222B6257-D57B-442C-B53B-0ECBEBA748AC wds:Q37784429-449EF82E-549C-4C22-B1DE-6E34ADD8B9CB wds:Q37784429-48F84590-EEA4-4CBA-984E-D1CB6D9E4A05 wds:Q37784429-4AD305D0-B9BB-4B57-A20D-BA3C4D7ABBEF wds:Q37784429-4D8EB7BF-90A9-4A92-8DF5-367E943045E0 wds:Q37784429-64A25A6F-A2EC-45E7-AE22-CE76D68D14B6 wds:Q37784429-6D7D48DB-A0E0-42BE-A81E-F71181CBC851 wds:Q37784429-825B19F7-4677-4DD5-8CB8-181EE14E2AE3 wds:Q37784429-8F2B6BCF-6D8D-497B-9F93-E359FB2E6706 wds:Q37784429-A748A157-ABAE-49CD-B207-2C9250DC4CB8 wds:Q37784429-CD364784-D787-4AE2-8DDE-7CEC3DAA5CB4 wds:Q37784429-D64F580E-33EC-478B-B8B9-97860945F96D wds:Q37784429-D732EFF9-58CE-4679-9DEB-937478D5ACE8 wds:Q37784429-E0DC40E1-7B71-4F60-AD31-E2402C3D91E3 wds:Q37784429-FDAE3D8B-66AF-4508-A772-29E3DF8015A6
cites work	Zaspopathy in a large classic late-onset distal myopathy family Mutations in ZASP define a novel form of muscular dystrophy in humans Characterization and in vivo functional analysis of splice variants of cypher Solution structure of ZASP PDZ domain; implications for sarcomere ultrastructure and enigma family redundancy. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. Zasp/Cypher internal ZM-motif containing fragments are sufficient to co-localize with alpha-actinin--analysis of patient mutations. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation Distal myopathy: Electron microscopic and histochemical studies Late onset hereditary distal myopathy Myopathia distalis tarda hereditaria; 249 examined cases in 72 pedigrees Mutations in myotilin cause myofibrillar myopathy Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients Myotilinopathy in a family with late onset myopathy
author name string	wds:Q37784429-42E7F2A3-55A0-41DF-96D3-D99A75E041FA wds:Q37784429-ED09894D-262D-4E36-B405-479C846440D2
author name string	Robert C Griggs Bjarne A Udd
rdfs:label	Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (en) Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (nl) Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (ast)
skos:prefLabel	Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (en) Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (nl) Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (ast)
name	Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (en) Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (nl) Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (ast)
title	wds:Q37784429-756D5286-44C0-4751-B656-E3AEC7DDF013
title	Markesbery disease: autosomal dominant late-onset distal myopathy: from phenotype to ZASP gene identification (en)
page(s)	wds:Q37784429-5BBE9F02-4181-4674-99C7-AB804DA7D912
page(s)	27-30
instance of	wds:Q37784429-CAB028FA-2317-41FF-A8EE-E9B7D9E22048
instance of	scholarly article
main subject	wds:Q37784429-76A33A3C-8540-4973-A39E-34E9CB5402B6 wds:Q37784429-C709483D-6AAA-4588-8F39-9DC9FC2686D0
main subject	phenotype distal muscular dystrophy
PubMed ID	wds:Q37784429-42E3510F-E877-42A7-A2CB-B149A320A3A7
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/20809097
PubMed ID	20809097
published in	wds:Q37784429-4FDCB3DA-747B-4EC7-8BD3-0D5E16264F8C
published in	NeuroMolecular Medicine
issue	wds:Q37784429-816038B6-0DCE-44B5-8AA7-CBB65528F530
volume	wds:Q37784429-080A3571-ACD4-4AAF-9311-01C340E275F4
issue	1
volume	13
DOI	wds:Q37784429-7D65A852-E815-4E79-B22F-C386FA520923
DOI	http://dx.doi.org/10.1007/S12017-010-8134-6
DOI	10.1007/S12017-010-8134-6
Fatcat ID	wds:Q37784429-E38527C9-002E-4B5A-8F24-0029BC82184C
Fatcat ID	release_bzcj3cvhqjfvpfp524reeenbwy
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q37784429
is cites work of	Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy. A novel mutation in the PDZ-like motif of ZASP causes distal ZASP-related myofibrillar myopathy.
is cites work of	wds:Q33676786-13506EAB-405B-427F-A82D-0D2CD9FE5031 wds:Q51558789-5F6904B7-6CA1-444A-A135-19D3FD4DBC22

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