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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2008-3-14
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pubmed:abstractText |
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by the selective death of motor neurons in the brain and spinal cord. Genetic risk factors have been implicated in susceptibility to ALS. Like single nucleotide polymorphisms (SNPs), copy-number variants (CNVs) are a source of genetic variation that have important effects on gene expression and disease phenotypes, and our aim was to identify CNVs that predispose to sporadic ALS.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Apr
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pubmed:issn |
1474-4422
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pubmed:author |
pubmed-author:BlauwHylke MHM,
pubmed-author:BurbachJ Peter HJP,
pubmed-author:FrankeLudeL,
pubmed-author:OphoffRoel ARA,
pubmed-author:SarisChristiaan G JCG,
pubmed-author:VeldinkJan HJH,
pubmed-author:WokkeJohn HJH,
pubmed-author:van EsMichael AMA,
pubmed-author:van VughtPaul WPW,
pubmed-author:van den BergLeonard HLH,
pubmed-author:van der ZwaagBertB
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
319-26
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:18313986-Adult,
pubmed-meshheading:18313986-Aged,
pubmed-meshheading:18313986-Aged, 80 and over,
pubmed-meshheading:18313986-Amyotrophic Lateral Sclerosis,
pubmed-meshheading:18313986-Chromosome Mapping,
pubmed-meshheading:18313986-Female,
pubmed-meshheading:18313986-Gene Dosage,
pubmed-meshheading:18313986-Gene Frequency,
pubmed-meshheading:18313986-Genetic Predisposition to Disease,
pubmed-meshheading:18313986-Genetic Testing,
pubmed-meshheading:18313986-Genetic Variation,
pubmed-meshheading:18313986-Genome,
pubmed-meshheading:18313986-Humans,
pubmed-meshheading:18313986-Male,
pubmed-meshheading:18313986-Middle Aged,
pubmed-meshheading:18313986-Oligonucleotide Array Sequence Analysis
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pubmed:year |
2008
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pubmed:articleTitle |
Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen.
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pubmed:affiliation |
Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, Utrecht, Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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