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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
9
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pubmed:dateCreated |
2003-9-16
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pubmed:abstractText |
Infantile and juvenile forms of Alexander disease are well characterized and are caused by de novo mutations in the glial fibrillary acid protein (GFAP) gene. In contrast, the adult form of the disease has been rarely described, and the etiology of this variant remains unknown.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Sep
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pubmed:issn |
0003-9942
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pubmed:author |
|
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pubmed:issnType |
Print
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pubmed:volume |
60
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1307-12
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12975300-Adult,
pubmed-meshheading:12975300-Alexander Disease,
pubmed-meshheading:12975300-Culture Techniques,
pubmed-meshheading:12975300-DNA, Complementary,
pubmed-meshheading:12975300-DNA Mutational Analysis,
pubmed-meshheading:12975300-Female,
pubmed-meshheading:12975300-Gene Expression,
pubmed-meshheading:12975300-Glial Fibrillary Acidic Protein,
pubmed-meshheading:12975300-Humans,
pubmed-meshheading:12975300-Magnetic Resonance Imaging,
pubmed-meshheading:12975300-Male,
pubmed-meshheading:12975300-Medulla Oblongata,
pubmed-meshheading:12975300-Middle Aged,
pubmed-meshheading:12975300-Neurofilament Proteins,
pubmed-meshheading:12975300-Pedigree,
pubmed-meshheading:12975300-Phenotype,
pubmed-meshheading:12975300-Point Mutation
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pubmed:year |
2003
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pubmed:articleTitle |
Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene.
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pubmed:affiliation |
Service de neurologie et Unité de Neurogénétique, Centre Hospitalier de l'Université de Montréal-Hôpital Notre-Dame, Montréal, Québec, Canada.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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