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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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Dades bibliogràfiques
Publicat a:N Engl J Med
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 1992
Matèries:
Accés en línia: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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