Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene

New England Journal of Medicine

Volumn 326, Issue 7, 1992, Pages 444-449

  Medori, Rossella ^a   Tritschler, Hans Juergen ^a   Leblanc, Andréa ^a   Villare, Federico ^a   Manetto, Valeria ^a   Chen, Hsiao Ying ^a   Xue, Run ^a   Leal, Suzanne ^b   Montagna, Pasquale ^c   Cortelli, Pietro ^c   Tinuper, Paolo ^c   Avoni, Patrizia ^c   Mochi, Mirella ^c   Baruzzi, Agostino ^c   Hauw, Jean Jaques ^d   Ott, Jurg ^b   Lugaresi, Elio ^c   Autilio Gambetti, Lucila ^a   Gambetti, Pierluigi ^a  

^a CASE WESTERN RESERVE UNIVERSITY   (United States)

^b Och Spine at New York Presbyterian Hospitals   (United States)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE; ASPARTIC ACID; DNA; PROTEINASE;

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; CREUTZFELDT JAKOB DISEASE; DYSAUTONOMIA; FAMILIAL DISEASE; FATALITY; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HUMAN; HUMAN TISSUE; IMMUNOBLOTTING; INSOMNIA; MALE; NEUROPATHOLOGY; PRION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BASE SEQUENCE; BRAIN CHEMISTRY; CODON; CREUTZFELDT-JAKOB SYNDROME; DYSAUTONOMIA, FAMILIAL; ENDOPEPTIDASE K; HUMAN; LINKAGE (GENETICS); LOD SCORE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; MUTATION; PRIONS; PRPSC PROTEINS; SERINE ENDOPEPTIDASES; SLEEP INITIATION AND MAINTENANCE DISORDERS; SLOW VIRUS DISEASES; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; THALAMIC NUCLEI;

EID: 0026552043     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM199202133260704     Document Type: Article

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