12177367

Source:http://linkedlifedata.com/resource/pubmed/id/12177367

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0014550, umls-concept:C0017347, umls-concept:C0025362, umls-concept:C0026838, umls-concept:C0026882, umls-concept:C0241764, umls-concept:C1425272
pubmed:issue	3
pubmed:dateCreated	2002-8-14
pubmed:abstractText	To describe a new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability (XMESID) and identify the gene defect underlying this disorder.
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/0401060
pubmed:citationSubset	AIM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Drosophila Proteins, http://linkedlifedata.com/resource/pubmed/chemical/aristaless protein, Drosophila
pubmed:status	MEDLINE
pubmed:month	Aug
pubmed:issn	0028-3878
pubmed:author	pubmed-author:BerkovicS FSF, pubmed-author:GeczJJ, pubmed-author:HewsonPP, pubmed-author:MulleyJ CJC, pubmed-author:ParasivamGG, pubmed-author:PhillipsF LFL, pubmed-author:ReardonKK, pubmed-author:SchefferIngrid EIE, pubmed-author:StrommePP, pubmed-author:WallaceR HRH
pubmed:issnType	Print
pubmed:day	13
pubmed:volume	59
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	348-56
pubmed:dateRevised	2010-11-18
pubmed:meshHeading	pubmed-meshheading:12177367-Adult, pubmed-meshheading:12177367-Aged, pubmed-meshheading:12177367-Child, pubmed-meshheading:12177367-Child, Preschool, pubmed-meshheading:12177367-Drosophila Proteins, pubmed-meshheading:12177367-Epilepsies, Myoclonic, pubmed-meshheading:12177367-Female, pubmed-meshheading:12177367-Genes, Homeobox, pubmed-meshheading:12177367-Genetic Linkage, pubmed-meshheading:12177367-Heterozygote Detection, pubmed-meshheading:12177367-Humans, pubmed-meshheading:12177367-Learning Disorders, pubmed-meshheading:12177367-Male, pubmed-meshheading:12177367-Middle Aged, pubmed-meshheading:12177367-Muscle Spasticity, pubmed-meshheading:12177367-Mutation, Missense, pubmed-meshheading:12177367-Pedigree, pubmed-meshheading:12177367-X Chromosome
pubmed:year	2002
pubmed:articleTitle	X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
pubmed:affiliation	Department of Medicine (Neurology), Epilepsy Research Institute, Austin & Repatriation Medical Centre, University of Melbourne, Neurosciences Building Level 1, Banksia Street, West Heidelberg, Victoria 3081, Australia. scheffer@unimelb.edu.au
pubmed:publicationType	Journal Article, Case Reports, Research Support, Non-U.S. Gov't