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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2007-2-27
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pubmed:abstractText |
Neuroacanthocytosis (NA) denotes a heterogeneous group of diseases that are characterized by nervous system abnormalities in association with acanthocytosis in the patients' blood. The 4.1R protein of the erythrocyte membrane is critical for the membrane-associated cytoskeleton structure and in central neurons it regulates the stabilization of AMPA receptors on the neuronal surface at the postsynaptic density. We report clinical, biochemical, and genetic features in four patients from four unrelated families with NA in order to explain the cause of morphological abnormalities and the relationship with neurodegenerative processes.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-10698300,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-10712924,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-10727775,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-11179975,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-11284140,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-11381253,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-11381254,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-11593073,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-11940688,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-12185448,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-12404112,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-12477695,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-12574408,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-12805297,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-15834631,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-16104830,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-2383405,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-7820887,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-8162053,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-8186997,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-8252043,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-9499662,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-9822582,
http://linkedlifedata.com/resource/pubmed/commentcorrection/17298666-9927493
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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:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2377
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pubmed:author |
pubmed-author:BernardiGiorgioG,
pubmed-author:CalabresiPaoloP,
pubmed-author:CaprariPatriziaP,
pubmed-author:CianciulliPaoloP,
pubmed-author:KawaraiToshitakaT,
pubmed-author:OrlacchioAntonioA,
pubmed-author:PisaniAntonioA,
pubmed-author:RumAdrianaA,
pubmed-author:SalvatiAnna MariaAM,
pubmed-author:StefaniAlessandroA,
pubmed-author:TarziaAnnaA
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pubmed:issnType |
Electronic
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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 |
4
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:17298666-Adult,
pubmed-meshheading:17298666-Aged,
pubmed-meshheading:17298666-Chorea,
pubmed-meshheading:17298666-Cytoskeletal Proteins,
pubmed-meshheading:17298666-DNA Mutational Analysis,
pubmed-meshheading:17298666-Female,
pubmed-meshheading:17298666-Genetic Predisposition to Disease,
pubmed-meshheading:17298666-Heterozygote,
pubmed-meshheading:17298666-Humans,
pubmed-meshheading:17298666-Male,
pubmed-meshheading:17298666-Membrane Proteins,
pubmed-meshheading:17298666-Mutation,
pubmed-meshheading:17298666-Pedigree,
pubmed-meshheading:17298666-Polymorphism, Single Nucleotide
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pubmed:year |
2007
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pubmed:articleTitle |
Neuroacanthocytosis associated with a defect of the 4.1R membrane protein.
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pubmed:affiliation |
Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello--Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia, Rome, Italy. a.orlacchio@hsantalucia.it
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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