Source:http://linkedlifedata.com/resource/pubmed/id/11268908
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
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pubmed:dateCreated |
2001-3-27
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pubmed:abstractText |
Neuronal migration disorders of the cerebral cortex form a heterogeneous group of abnormalities, characterised by mental retardation, epilepsy and hypotonia. They are prevalent in 1% of the population and in 20-40% of the untreatable forms of epilepsy. Disorders at the start of the migration result in nodular heterotopias. Bilateral periventricular nodular heterotopias are X-linked disorders, in which cortical neurons are unable to leave their position at the ventricular surface due to the absence of filamin 1. The large group of lissencephalies can be divided into a number of syndromes, each of which is characterised by a gene mutation (LIS1, DCX, RELN). These mutations result in agyria and pachygyria, which are characteristic for this group. A number of these abnormalities, especially the smaller nodular heterotopias and focal cortical dysplasia, may be treated by neurosurgical excision.
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pubmed:language |
dut
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0028-2162
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:day |
10
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pubmed:volume |
145
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
466-74
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pubmed:dateRevised |
2010-11-18
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pubmed:meshHeading |
pubmed-meshheading:11268908-Cell Movement,
pubmed-meshheading:11268908-Cerebral Cortex,
pubmed-meshheading:11268908-Genetic Linkage,
pubmed-meshheading:11268908-Humans,
pubmed-meshheading:11268908-Magnetic Resonance Imaging,
pubmed-meshheading:11268908-Mutation,
pubmed-meshheading:11268908-Nervous System Malformations,
pubmed-meshheading:11268908-Neurons,
pubmed-meshheading:11268908-Syndrome,
pubmed-meshheading:11268908-X Chromosome
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pubmed:year |
2001
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pubmed:articleTitle |
[Development and developmental disorders of the human brain. III. Neuronal migration disorders of the cerebrum].
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pubmed:affiliation |
Instituut voor Neurologie, Universitair Medisch Centrum St Radboud, Postbus 9101, 6500 HB Nijmegen. h.tendonkelaar@czzorlnm.azn.nl
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pubmed:publicationType |
Journal Article,
English Abstract,
Review
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