rdf:type |
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lifeskim:mentions |
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pubmed:issue |
12
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pubmed:dateCreated |
2004-12-29
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pubmed:abstractText |
The authors present clinical, sleep, and neuroendocrine features of a patient with genetically confirmed fatal familial insomnia (D178N mutation with heterozygosity at codon 129 of the prion protein gene). The patient exhibited pseudohypersomnia behavior instead of insomnia. There was profound alteration in the sleep-wake cycle with a clear dissociation in the disappearance of circadian and neuroendocrine rhythms, findings unrelated to abnormalities in the hypocretinergic system.
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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 |
http://linkedlifedata.com/resource/pubmed/chemical/Adrenocorticotropic Hormone,
http://linkedlifedata.com/resource/pubmed/chemical/Amyloid,
http://linkedlifedata.com/resource/pubmed/chemical/Codon,
http://linkedlifedata.com/resource/pubmed/chemical/Hydrocortisone,
http://linkedlifedata.com/resource/pubmed/chemical/Intracellular Signaling Peptides...,
http://linkedlifedata.com/resource/pubmed/chemical/Neuropeptides,
http://linkedlifedata.com/resource/pubmed/chemical/Norepinephrine,
http://linkedlifedata.com/resource/pubmed/chemical/PRNP protein, human,
http://linkedlifedata.com/resource/pubmed/chemical/Prions,
http://linkedlifedata.com/resource/pubmed/chemical/Protein Precursors,
http://linkedlifedata.com/resource/pubmed/chemical/orexins
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1526-632X
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pubmed:author |
|
pubmed:issnType |
Electronic
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pubmed:day |
28
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pubmed:volume |
63
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2416-8
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pubmed:dateRevised |
2006-11-28
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pubmed:meshHeading |
pubmed-meshheading:15623717-Adrenocorticotropic Hormone,
pubmed-meshheading:15623717-Adult,
pubmed-meshheading:15623717-Amyloid,
pubmed-meshheading:15623717-Circadian Rhythm,
pubmed-meshheading:15623717-Codon,
pubmed-meshheading:15623717-Heterozygote,
pubmed-meshheading:15623717-Humans,
pubmed-meshheading:15623717-Hydrocortisone,
pubmed-meshheading:15623717-Insomnia, Fatal Familial,
pubmed-meshheading:15623717-Intracellular Signaling Peptides and Proteins,
pubmed-meshheading:15623717-Male,
pubmed-meshheading:15623717-Motor Activity,
pubmed-meshheading:15623717-Neuropeptides,
pubmed-meshheading:15623717-Norepinephrine,
pubmed-meshheading:15623717-Polysomnography,
pubmed-meshheading:15623717-Prions,
pubmed-meshheading:15623717-Protein Precursors
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pubmed:year |
2004
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pubmed:articleTitle |
Dissociation in circadian rhythms in a pseudohypersomnia form of fatal familial insomnia.
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pubmed:affiliation |
Service de Neurologie B, Hôpital Gui-de-Chauliac, 80 avenue Augustin Fliche, 34295 Montpellier Cedex 5, France. ydauvilliers@yahoo.fr
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pubmed:publicationType |
Journal Article,
Case Reports
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