20039262

Source:http://linkedlifedata.com/resource/pubmed/id/20039262

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0015127, umls-concept:C0026882, umls-concept:C0205082, umls-concept:C0205314, umls-concept:C0270921, umls-concept:C0679622, umls-concept:C1314792, umls-concept:C1833334
pubmed:issue	6
pubmed:dateCreated	2010-1-4
pubmed:abstractText	To report the first cases of a homozygous recessive mutation in NEFL, the gene that encodes the light subunit of neurofilaments.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/KO8 DC005394, http://linkedlifedata.com/resource/pubmed/grant/R01 NS43174
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/20039262-20033987
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7707449
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Glutamic Acid, http://linkedlifedata.com/resource/pubmed/chemical/Neurofilament Proteins, http://linkedlifedata.com/resource/pubmed/chemical/neurofilament protein L
pubmed:status	MEDLINE
pubmed:month	Dec
pubmed:issn	1531-8249
pubmed:author	pubmed-author:LiJianJ, pubmed-author:MoKatieK, pubmed-author:SchererSteven SSS, pubmed-author:YumSabrina WSW, pubmed-author:ZhangJunxianJ
pubmed:issnType	Electronic
pubmed:volume	66
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	759-70
pubmed:meshHeading	pubmed-meshheading:20039262-Adolescent, pubmed-meshheading:20039262-Age of Onset, pubmed-meshheading:20039262-Animals, pubmed-meshheading:20039262-Axons, pubmed-meshheading:20039262-Child, pubmed-meshheading:20039262-Child, Preschool, pubmed-meshheading:20039262-DNA Mutational Analysis, pubmed-meshheading:20039262-Disease Models, Animal, pubmed-meshheading:20039262-Disease Progression, pubmed-meshheading:20039262-Family Health, pubmed-meshheading:20039262-Female, pubmed-meshheading:20039262-Follow-Up Studies, pubmed-meshheading:20039262-Genetic Predisposition to Disease, pubmed-meshheading:20039262-Glutamic Acid, pubmed-meshheading:20039262-Humans, pubmed-meshheading:20039262-Infant, pubmed-meshheading:20039262-Male, pubmed-meshheading:20039262-Mice, pubmed-meshheading:20039262-Mice, Knockout, pubmed-meshheading:20039262-Microscopy, Electron, Transmission, pubmed-meshheading:20039262-Mutagenesis, Site-Directed, pubmed-meshheading:20039262-Mutation, pubmed-meshheading:20039262-Neural Conduction, pubmed-meshheading:20039262-Neurofilament Proteins, pubmed-meshheading:20039262-Peripheral Nervous System Diseases, pubmed-meshheading:20039262-Severity of Illness Index, pubmed-meshheading:20039262-Sural Nerve, pubmed-meshheading:20039262-Young Adult
pubmed:year	2009
pubmed:articleTitle	A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.
pubmed:affiliation	Section of Neurology, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA 19134, USA. sabrina.yum@drexelmed.edu
pubmed:publicationType	Journal Article, Research Support, Non-U.S. Gov't, Research Support, N.I.H., Extramural