About: Core-rod myopathy caused by mutations in the nebulin gene

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) article scientifique publié en 2009 (fr) наукова стаття, опублікована в жовтні 2009 (uk) im Oktober 2009 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57186012-A6ECF60C-274A-4BDF-BA35-FFF738285258
publication date	2009-10-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57186012-E15BC8B9-BF86-49F5-BE78-1BE75D44AFD1
language of work or name	English
author name string	wds:Q57186012-56F8CB71-C728-4872-B4FD-D16410EC15DF wds:Q57186012-87B00DAF-F905-4BD7-B605-74784A3FBC8A wds:Q57186012-8A5ACE83-F1B9-49AF-AF7E-DE9679D10C0F wds:Q57186012-A48D7348-5665-458F-8626-40EA4BC193DA wds:Q57186012-A50651B1-2FB2-4605-8069-2AE6DD08AE4F wds:Q57186012-BD948BDA-8EBB-4FCB-AABC-AAE520783CDD wds:Q57186012-D13D07E0-DADD-4754-B2AC-FA5175A2F15E wds:Q57186012-D2B279BA-5739-4477-BA9A-9AD14F57BA6D wds:Q57186012-F4571502-E508-46C0-9EF8-3E94AC37A84C wds:Q57186012-F83E44B4-0963-46AE-9594-C8C4094E5A69
author name string	C Wallgren-Pettersson M Fardeau J Lunardi N Monnier N Pellegrini N B Romero D Orlikowski A Barois S Quijano-Roy R Y Carlier
rdfs:label	Core-rod myopathy caused by mutations in the nebulin gene (en) Core-rod myopathy caused by mutations in the nebulin gene (nl)
skos:prefLabel	Core-rod myopathy caused by mutations in the nebulin gene (en) Core-rod myopathy caused by mutations in the nebulin gene (nl)
name	Core-rod myopathy caused by mutations in the nebulin gene (en) Core-rod myopathy caused by mutations in the nebulin gene (nl)
author	wds:Q57186012-12D8343F-035D-46E4-A6A7-219C4A4BC6C1 wds:Q57186012-8B48E904-D7F1-4B11-8000-7D36193D6AF6 wds:Q57186012-8C9D1B5A-0FA4-4A92-B550-13E77C2BB41F wds:Q57186012-9335C43B-D04A-4BBA-A72C-FFEF2382E82F
author	Nigel G Laing Kristl G Claeys Katarina Pelin Vilma-Lotta Lehtokari
title	wds:Q57186012-413E3ED1-EF59-43A0-AE89-BE9198E6636B
title	Core-rod myopathy caused by mutations in the nebulin gene (en)
page(s)	wds:Q57186012-6F695611-3958-4F3A-8FFF-E6E964F20038
page(s)	1159-1161
instance of	wds:Q57186012-3C9B1136-5BFB-4824-9373-2916A40EF1A7
instance of	scholarly article
PubMed ID	wds:Q57186012-411636A9-C48E-45C3-8E8D-4F17557F1CA3
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/19805734
PubMed ID	19805734
published in	wds:Q57186012-D3295DCE-55CF-4BE9-9753-11C83B02C69D
published in	Neurology
issue	wds:Q57186012-A439D3D6-31A7-4ECD-8D03-333FE59C4E21
volume	wds:Q57186012-955D86A7-382B-4D68-B1BA-2AAD3C711622
issue	14
volume	73
DOI	wds:Q57186012-A138A463-94C7-446C-B24C-CFCACD9B9DD7
DOI	http://dx.doi.org/10.1212/WNL.0B013E3181BACF45
DOI	10.1212/WNL.0B013E3181BACF45
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57186012
is cites work of	Nebulin, a multi-functional giant Congenital myopathies: an update Novel deletion of lysine 7 expands the clinical, histopathological and genetic spectrum of TPM2-related myopathies. Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus The Nebulin family: an actin support group Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy. Nebulin, a major player in muscle health and disease Approach to the diagnosis of congenital myopathies Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing Mutation update: the spectra of nebulin variants and associated myopathies Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations. New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies. Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings. Clinical utility gene card for: Nemaline myopathy - update 2015. LASP2 suppressed malignancy and Wnt/β-catenin signaling pathway activation in bladder cancer. Expression of multiple nebulin isoforms in human skeletal muscle and brain. Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb Is Gene-Size an Issue for the Diagnosis of Skeletal Muscle Disorders? Nemaline myopathies: a current view Nemaline myopathy type 6: clinical and myopathological features Prenatal diagnosis of congenital myopathies and muscular dystrophies. Myopathology in congenital myopathies Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene NEB-related core-rod myopathy with distinct clinical and pathological features. Clinical utility gene card for: Central core disease Clinical utility gene card for: Multi-minicore disease. Nebulin: big protein with big responsibilities MYL2-associated congenital fiber-type disproportion and cardiomyopathy with variants in additional neuromuscular disease genes; the dilemma of panel testing
is cites work of	wds:Q36503498-CEB24ADB-9768-4E4B-BDFA-607577A012ED wds:Q37235150-D8A89D6A-03C6-48CC-92C2-82FD8FEC41B0 wds:Q90356113-965E5EEF-42DF-4E96-9A95-C1DA90E8CF39 wds:Q28087567-2FD29DE5-C975-4D7C-B08F-64050F3BAB1D wds:Q92950622-F5D511D3-1F6E-4A6A-B782-D72C8F23392A wds:Q50883940-1E42718E-A91D-4571-AAD0-FB5F5EB7D1F9

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