Literature DB >> 8676137

Codon 200 mutation in a new family of Chilean origin with Creutzfeldt-Jakob disease.

M Salvatore, M Pocchiari, F Cardone, R Petraroli, M D'Alessandro, S Galveź, P Brown, G Macćhi, C Fieschi, C Colosimo.   

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Year:  1996        PMID： 8676137      PMCID： PMC486471          DOI： 10.1136/jnnp.61.1.111

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  5 in total

1.  Creutzfeldt-Jacob disease associated with the PRNP codon 200Lys mutation: an analysis of 45 families.

Authors:  L G Goldfarb; P Brown; E Mitrovà; L Cervenáková; L Goldin; A D Korczyn; J Chapman; S Gálvez; L Cartier; R Rubenstein
Journal:  Eur J Epidemiol       Date:  1991-09       Impact factor: 8.082

2.  Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).

Authors:  R Gabizon; H Rosenmann; Z Meiner; I Kahana; E Kahana; Y Shugart; J Ott; S B Prusiner
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

3.  Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.

Authors:  J Chapman; P Brown; L G Goldfarb; A Arlazoroff; D C Gajdusek; A D Korczyn
Journal:  J Neurol Neurosurg Psychiatry       Date:  1993-10       Impact factor: 10.154

4.  Small virus-like structure in brains from cases of sporadic and familial Creutzfeldt-Jakob disease.

Authors:  M Ozel; Y G Xi; E Baldauf; H Diringer; M Pocchiari
Journal:  Lancet       Date:  1994-10-01       Impact factor: 79.321

5.  Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.

Authors:  I Inoue; T Kitamoto; K Doh-ura; H Shii; I Goto; J Tateishi
Journal:  Neurology       Date:  1994-02       Impact factor: 9.910
  5 in total
  2 in total

1.  Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.

Authors:  H S Lee; N Sambuughin; L Cervenakova; J Chapman; M Pocchiari; S Litvak; H Y Qi; H Budka; T del Ser; H Furukawa; P Brown; D C Gajdusek; J C Long; A D Korczyn; L G Goldfarb
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

2.  Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.

Authors:  Michelangelo Mancuso; Gabriele Siciliano; Sabina Capellari; Daniele Orsucci; Policarpo Moretti; Giuseppe Di Fede; Silvia Suardi; Rosaria Strammiello; Piero Parchi; Fabrizio Tagliavini; Luigi Murri
Journal:  Neurol Sci       Date:  2009-07-14       Impact factor: 3.307
  2 in total

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