About: Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3

Facets (new session)
Description
Metadata
Settings
- owl:sameAs
- Inference Rule:

About: Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3 Goto Sponge NotDistinct Permalink

An Entity of Type : wikibase:Item, within Data Space : wikidata.demo.openlinksw.com associated with source document(s)

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2004 (fr) наукова стаття, опублікована в травні 2004 (uk) im Mai 2004 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q57990841-1574756F-BB5E-4BE3-9249-4A86B74509B0
publication date	2004-05-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q57990841-2FBABF6B-99DE-47E1-A437-74878AE643C4 wds:Q57990841-56AAAD79-A094-414D-8848-8B532E36F980 wds:Q57990841-80D4F8D8-8A9A-4C59-A44A-D4C603DEE2EB wds:Q57990841-8D8C210D-5E87-4C5A-BE2C-B3915D6FFBB9 wds:Q57990841-99AD1C2E-55C9-453A-8050-B58DCDA8617C wds:Q57990841-B2DE9328-686D-4A44-A9CC-AEA1FA548A85 wds:Q57990841-EC104425-EBCB-4672-BBE5-A17892BFE93A
author name string	Bernhard Neundörfer Corinna Berghoff Dieter Heuss Gerardo Del Valle Martin Berghoff Ramiro Barrantes Bernd Rautenstrauss
rdfs:label	Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (nl) Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3 (en)
skos:prefLabel	Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (nl) Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3 (en)
name	Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (nl) Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3 (en)
author	wds:Q57990841-1DFD6AB7-9EC8-461A-AC18-2460FC099BB0 wds:Q57990841-6B95D6C3-F52A-445E-A271-0741E20940F8 wds:Q57990841-DC26DB6E-38AC-4837-8710-181EF26701BC
author	André Reis Alejandro Leal Bernal Morera
title	wds:Q57990841-44798E4B-3F25-4A6D-B389-1B3D7FA9EC04
title	Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3 (en)
page(s)	wds:Q57990841-F45FA7F7-7B0F-493A-B2EF-1B0937918872
page(s)	301-306
instance of	wds:Q57990841-E29B4AFC-528D-41E8-9A89-47154D7C961D
instance of	scholarly article
main subject	wds:Q57990841-BF9350E9-22B0-4B21-AD87-E126999544C3
main subject	electrophysiology
PubMed ID	wds:Q57990841-5B511F17-77B9-4CC6-A95A-F130AC59CAEE
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/15099588
PubMed ID	15099588
published in	wds:Q57990841-1BCEB345-C440-402A-BC3F-5AE9492A0F22
published in	Neuromuscular Disorders
issue	wds:Q57990841-43647A65-4356-4DE9-B090-A7B5B57C0A01
volume	wds:Q57990841-65969532-D7A3-46BA-AC87-1338FD1834BF
issue	5
volume	14
DOI	wds:Q57990841-141249D0-6DB2-4C2B-A64A-1EA19BEC3B58
DOI	http://dx.doi.org/10.1016/J.NMD.2004.02.004
DOI	10.1016/J.NMD.2004.02.004
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q57990841
is cites work of	A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2. Autosomal-recessive Charcot-Marie-Tooth diseases Late onset autosomal dominant Charcot-Marie-Tooth 2 neuropathy in a Costa Rican family
is cites work of	wds:Q37843794-6CF02C4D-956E-400B-BC0B-1B499EFAD427 wds:Q45891394-93D59E80-DA58-4B08-A913-798A9A7459BE wds:Q55670527-97EF5FBE-2D70-4DD4-A8FA-16FB5E03E790 wds:Q79139583-86F4D2FE-5EFB-4542-93E3-8419401A0E5E wds:Q24299375-9058CB2E-1437-42CE-9C68-FE6D7CDC20D9 wds:Q36126350-AF670011-F9CF-493D-928D-3B5B7CA6D0DD wds:Q38115571-7C819DAC-882C-4483-A2E5-2D68981247A6 wds:Q36507152-2529D76A-98BE-4332-8550-84CD5D5C7980

Faceted Search & Find service v1.16.117 as of May 05 2024

Alternative Linked Data Documents: ODE Content Formats:

RDF

ODATA

Microdata

About

OpenLink Virtuoso version 07.20.3239 as of May 5 2024, on Linux (x86_64-centos_6-linux-gnu), Single-Server Edition (378 GB total memory, 190 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2024 OpenLink Software