17502546

Source:http://linkedlifedata.com/resource/pubmed/id/17502546

Download in:

Switch to

Custom View

Named Graph Language Inference

Statements in which the resource exists as a subject.
Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0007959, umls-concept:C0031437, umls-concept:C0332307
pubmed:issue	20
pubmed:dateCreated	2007-5-15
pubmed:abstractText	To investigate the clinical and electrophysiologic phenotype of Charcot-Marie-Tooth disease (CMT) Type 2 in a large number of affected families.
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/17502546-17502544
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/BSCL2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/GTP-Binding Protein gamma Subunits, http://linkedlifedata.com/resource/pubmed/chemical/MFN2 protein, human, http://linkedlifedata.com/resource/pubmed/chemical/Membrane Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Mitochondrial Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Nerve Tissue Proteins, http://linkedlifedata.com/resource/pubmed/chemical/rab GTP-Binding Proteins, http://linkedlifedata.com/resource/pubmed/chemical/rab7 protein
pubmed:status	MEDLINE
pubmed:month	May
pubmed:issn	1526-632X
pubmed:author	pubmed-author:BabaII, pubmed-author:BienfaitH M EHM, pubmed-author:De JonghePP, pubmed-author:Gabreëls-FestenA A W MAA, pubmed-author:KoelmanJ H T MJH, pubmed-author:MeggouhFF, pubmed-author:Ongerboer de VisserB WBW, pubmed-author:TimmermanVV, pubmed-author:WetermanM A JMA, pubmed-author:de HaasR ARA, pubmed-author:de VisserMM, pubmed-author:van EngelenB G MBG
pubmed:issnType	Electronic
pubmed:day	15
pubmed:volume	68
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	1658-67
pubmed:dateRevised	2007-12-8
pubmed:meshHeading	pubmed-meshheading:17502546-Action Potentials, pubmed-meshheading:17502546-Adolescent, pubmed-meshheading:17502546-Adult, pubmed-meshheading:17502546-Age of Onset, pubmed-meshheading:17502546-Aged, pubmed-meshheading:17502546-Axons, pubmed-meshheading:17502546-Charcot-Marie-Tooth Disease, pubmed-meshheading:17502546-Child, pubmed-meshheading:17502546-Child, Preschool, pubmed-meshheading:17502546-DNA Mutational Analysis, pubmed-meshheading:17502546-Demyelinating Diseases, pubmed-meshheading:17502546-Electromyography, pubmed-meshheading:17502546-Female, pubmed-meshheading:17502546-GTP-Binding Protein gamma Subunits, pubmed-meshheading:17502546-Genetic Heterogeneity, pubmed-meshheading:17502546-Genotype, pubmed-meshheading:17502546-Humans, pubmed-meshheading:17502546-Hypesthesia, pubmed-meshheading:17502546-Infant, pubmed-meshheading:17502546-Male, pubmed-meshheading:17502546-Membrane Proteins, pubmed-meshheading:17502546-Middle Aged, pubmed-meshheading:17502546-Mitochondrial Proteins, pubmed-meshheading:17502546-Muscle Weakness, pubmed-meshheading:17502546-Muscular Atrophy, pubmed-meshheading:17502546-Mutation, pubmed-meshheading:17502546-Nerve Tissue Proteins, pubmed-meshheading:17502546-Netherlands, pubmed-meshheading:17502546-Neural Conduction, pubmed-meshheading:17502546-Neurologic Examination, pubmed-meshheading:17502546-Peripheral Nerves, pubmed-meshheading:17502546-Phenotype, pubmed-meshheading:17502546-Reflex, Abnormal, pubmed-meshheading:17502546-Retrospective Studies, pubmed-meshheading:17502546-Severity of Illness Index, pubmed-meshheading:17502546-Walking, pubmed-meshheading:17502546-rab GTP-Binding Proteins
pubmed:year	2007
pubmed:articleTitle	Phenotype of Charcot-Marie-Tooth disease Type 2.
pubmed:affiliation	Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands.
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't