Literature DB >> 10939584

Polymorphism at codon 129 of PRNP affects the phenotypic expression of Creutzfeldt-Jakob disease linked to E200K mutation.

G Puoti, G Rossi, G Giaccone, T Awan, P M Lievens, C A Defanti, F Tagliavini, O Bugiani.   

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Year:  2000        PMID： 10939584

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  10 in total

Review 1.  Genetic PrP Prion Diseases.

Authors:  Mee-Ohk Kim; Leonel T Takada; Katherine Wong; Sven A Forner; Michael D Geschwind
Journal:  Cold Spring Harb Perspect Biol       Date:  2018-05-01       Impact factor: 10.005

Review 2.  The prion strain phenomenon: molecular basis and unprecedented features.

Authors:  Rodrigo Morales; Karim Abid; Claudio Soto
Journal:  Biochim Biophys Acta       Date:  2006-12-15

Review 3.  Hereditary Human Prion Diseases: an Update.

Authors:  Matthias Schmitz; Kathrin Dittmar; Franc Llorens; Ellen Gelpi; Isidre Ferrer; Walter J Schulz-Schaeffer; Inga Zerr
Journal:  Mol Neurobiol       Date:  2016-06-20       Impact factor: 5.590

4.  Genetic CJD with a novel E200G mutation in the prion protein gene and comparison with E200K mutation cases.

Authors:  Mee-Ohk Kim; Ignazio Cali; Abby Oehler; Jamie C Fong; Katherine Wong; Tricia See; Jonathan S Katz; Pierluigi Gambetti; Brianne M Bettcher; Stephen J Dearmond; Michael D Geschwind
Journal:  Acta Neuropathol Commun       Date:  2013-12-12       Impact factor: 7.801

5.  Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfolding.

Authors:  Marc W van der Kamp; Valerie Daggett
Journal:  J Mol Biol       Date:  2010-10-07       Impact factor: 5.469

Review 6.  The consequences of pathogenic mutations to the human prion protein.

Authors:  Marc W van der Kamp; Valerie Daggett
Journal:  Protein Eng Des Sel       Date:  2009-07-14       Impact factor: 1.650

Review 7.  Genetic prion disease: Experience of a rapidly progressive dementia center in the United States and a review of the literature.

Authors:  Leonel T Takada; Mee-Ohk Kim; Ross W Cleveland; Katherine Wong; Sven A Forner; Ignacio Illán Gala; Jamie C Fong; Michael D Geschwind
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2017-01       Impact factor: 3.568

8.  Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype.

Authors:  Nupur Ghoshal; Ignazio Cali; Richard Justin Perrin; S Andrew Josephson; Ning Sun; Pierluigi Gambetti; John Carl Morris
Journal:  Arch Neurol       Date:  2009-10

9.  Allelic discrimination of genetic human prion diseases by real-time PCR genotyping.

Authors:  Olga Calero; Rafael Hortigüela; Carmen Albo; Jesés de Pedro-Cuesta; Miguel Calero
Journal:  Prion       Date:  2009-07-23       Impact factor: 3.931

Review 10.  Translational Research in Alzheimer's and Prion Diseases.

Authors:  Giuseppe Di Fede; Giorgio Giaccone; Mario Salmona; Fabrizio Tagliavini
Journal:  J Alzheimers Dis       Date:  2018       Impact factor: 4.472
  10 in total

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