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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發表在:N Engl J Med
Main Authors: 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
格式: Artigo
語言:Inglês
出版: 1992
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Article
在線閱讀: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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