Literature DB >> 11659811

Research on familial Creutzfeldt-Jakob disease (FCJD) resulting in presymptomatic testing: implications for the Human Genome Project.

Janet E Ulm, Cindy L Vnencak-Jones, Patrick Bosque.   

Abstract

Entities:  

Keywords:  Biomedical and Behavioral Research; Genetics and Reproduction; Human Genome Project

Mesh：

Year:  1993        PMID： 11659811     DOI： 10.1007/bf00962556

Source DB:  PubMed          Journal:  J Genet Couns        ISSN： 1059-7700            Impact factor:   2.537


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  14 in total

1.  A PrP gene codon 178 base substitution and a 24-bp interstitial deletion in familial Creutzfeldt-Jakob disease.

Authors:  P J Bosque; C L Vnencak-Jones; M D Johnson; J A Whitlock; M J McLean
Journal:  Neurology       Date:  1992-10       Impact factor: 9.910

2.  Presymptomatic detection or exclusion of prion protein gene defects in families with inherited prion diseases.

Authors:  J Collinge; M Poulter; M B Davis; M Baraitser; F Owen; T J Crow; A E Harding
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

3.  Codon 178 mutation in ethnically diverse Creutzfeldt-Jakob disease families.

Authors:  A Nieto; L G Goldfarb; P Brown; W R McCombie; S Trapp; D M Asher; D C Gajdusek
Journal:  Lancet       Date:  1991-03-09       Impact factor: 79.321

4.  New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.

Authors:  L G Goldfarb; M Haltia; P Brown; A Nieto; J Kovanen; W R McCombie; S Trapp; D C Gajdusek
Journal:  Lancet       Date:  1991-02-16       Impact factor: 79.321

5.  The Libyan Creutzfeldt-Jakob disease focus in Israel: an epidemiologic evaluation.

Authors:  N Zilber; E Kahana; M Abraham
Journal:  Neurology       Date:  1991-09       Impact factor: 9.910

6.  Presymptomatic testing for Huntington chorea: guidelines for moral and social accountability.

Authors:  J F Smurl; D D Weaver
Journal:  Am J Med Genet       Date:  1987-02

7.  Creutzfeldt-Jakob disease (spongiform encephalopathy): transmission to the chimpanzee.

Authors:  C J Gibbs; D C Gajdusek; D M Asher; M P Alpers; E Beck; P M Daniel; W B Matthews
Journal:  Science       Date:  1968-07-26       Impact factor: 47.728

8.  Creutzfeldt-Jakob disease of long duration: clinicopathological characteristics, transmissibility, and differential diagnosis.

Authors:  P Brown; P Rodgers-Johnson; F Cathala; C J Gibbs; D C Gajdusek
Journal:  Ann Neurol       Date:  1984-09       Impact factor: 10.422

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

Authors:  R Medori; H J Tritschler; A LeBlanc; F Villare; V Manetto; H Y Chen; R Xue; S Leal; P Montagna; P Cortelli
Journal:  N Engl J Med       Date:  1992-02-13       Impact factor: 91.245

10.  Novel proteinaceous infectious particles cause scrapie.

Authors:  S B Prusiner
Journal:  Science       Date:  1982-04-09       Impact factor: 47.728
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