FATAL FAMILIAL INSOMNIA, A PRION DISEASE WITH A MUTATION AT CODON 178 OF THE PRION PROTEIN GENE

BACKGROUND. We previously described two members of a family affected by an apparently genetically determined fatal disease characterized clinically by progressive insomnia, dysautonomia, and motor signs and characterized pathologically by severe atrophy of the anterior ventral and mediodorsal thalam...

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Vydáno v:N Engl J Med
Hlavní autoři: Medori, Rossella, Tritschler, Hans-Jurgen, LeBlanc, Andréa, Villare, Federico, Manetto, Valeria, Chen, Hsiao Ying, Xue, Run, Leal, Suzanne, Montagna, Pasquale, Cortelli, Pietro, Tinuper, Paolo, Avoni, Patrizia, Mochi, Mirella, Baruzzi, Agostino, Hauw, Jean Jaques, Ott, Jurg, Lugaresi, Elio, Autilio-Gambetti, Lucila, Gambetti, Pierluigi
Médium: Artigo
Jazyk:Inglês
Vydáno: 1992
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6151859/
https://ncbi.nlm.nih.gov/pubmed/1346338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJM199202133260704
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